Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-52566392-ATTATTTATGATCATTGGGGACCGAGTTAGAGGTTTATTTCTTTTTTTTTTTTAATAGAGTTTTGTGTGTC-A c.*27_*96delGACACACAAAACTCTATTAAAAAAAAAAAAGAAATAAACCTCTAACTCGGTCCCCAATGATCATAAATAA splice_region A1CF 1 70782 1.41279E-5 35391 0 NA
10-52566495-G-T p.Thr593Thr synonymous A1CF 1 82380 1.21389E-5 41190 0 NA
10-52566502-T-A p.Tyr591Phe missense A1CF 1 82632 1.21018E-5 41316 0 8.26071E-6
10-52566508-T-A p.Asp589Val missense A1CF 2 82640 2.42014E-5 41320 0 3.19959E-5
10-52566514-C-T p.Arg587Gln missense A1CF 13 82710 1.57176E-4 41355 0 0.00151057
10-52566537-G-A p.Tyr579Tyr synonymous A1CF 1 82844 1.20709E-5 41422 0 4.00029E-6
10-52566555-A-G p.Tyr573Tyr synonymous A1CF 1 82862 1.20683E-5 41431 0 7.97308E-6
10-52566560-C-T p.Ala572Thr missense A1CF 1 82862 1.20683E-5 41431 0 NA
10-52566565-A-G p.Leu570Ser missense A1CF 1 82836 1.2072E-5 41418 0 1.65003E-5
10-52566574-C-T p.Gly567Glu missense A1CF 1 82832 1.20726E-5 41416 0 3.58952E-5
10-52566586-G-A p.Ala563Val missense A1CF 1 82786 1.20793E-5 41393 0 3.99004E-6
10-52566592-T-C p.Lys561Arg missense A1CF 1 82780 1.20802E-5 41390 0 NA
10-52566594-G-C p.Leu560Leu synonymous A1CF 1506 82740 0.0182016 41370 80 0.0396496
10-52566594-G-A p.Leu560Leu synonymous A1CF 2 82772 2.41628E-5 41386 0 1.64965E-5
10-52566602-CT-AG p.AlaAla557AlaSer missense A1CF 320 82768 0.00386623 41384 3 NA
10-52566602-C-A p.Ala558Ser missense A1CF 14 82768 1.69147E-4 41384 2 0.00924922
10-52566603-T-G p.Ala557Ala synonymous A1CF 14 82778 1.69127E-4 41389 2 0.00927697
10-52566610-A-C p.Val555Gly missense A1CF 2 82780 2.41604E-5 41390 0 NA
10-52566611-C-T p.Val555Met missense A1CF 1330 82754 0.0160717 41377 45 0.0288486
10-52566612-G-A p.Pro554Pro synonymous A1CF 7 82758 8.4584E-5 41379 0 6.37714E-5
10-52566646-G-A c.1634-6C>T splice_region A1CF 1 82672 1.2096E-5 41336 0 NA
10-52569650-A-G c.1633+4T>C splice_region A1CF 2 81874 2.44278E-5 40937 0 8.25314E-6
10-52569666-TAGC-T p.Ala540del conservative_inframe_deletion A1CF 5 81978 6.0992E-5 40989 0 6.70119E-4
10-52569666-T-TAGCAGCAGC p.Ala538_Ala540dup conservative_inframe_insertion A1CF 1 82216 1.21631E-5 41108 0 NA
10-52569669-C-A p.Ala540Ser missense A1CF 2 82224 2.43238E-5 41112 0 NA
10-52569683-G-GT p.Thr535fs frameshift A1CF 2 82404 2.42707E-5 41202 0 1.65046E-5
10-52569687-C-T p.Ala534Thr missense A1CF 1 82468 1.21259E-5 41234 0 8.25082E-6
10-52569689-A-G p.Met533Thr missense A1CF 5 82494 6.06105E-5 41247 0 7.42513E-5
10-52569694-G-A p.Gly531Gly synonymous A1CF 3 82532 3.63495E-5 41266 0 3.18492E-5
10-52569699-C-T p.Asp530Asn missense A1CF 4 82570 4.84437E-5 41285 0 3.18492E-5
10-52569702-C-T p.Gly529Ser missense A1CF 1 82682 1.20945E-5 41341 0 8.24756E-6
10-52569708-C-T p.Asp527Asn missense A1CF 1 82720 1.2089E-5 41360 0 NA
10-52569715-G-A p.Ile524Ile synonymous A1CF 1 82738 1.20863E-5 41369 0 NA
10-52569742-G-A p.Ala515Ala synonymous A1CF 4 82988 4.81997E-5 41494 0 3.18613E-5
10-52569751-C-T p.Thr512Thr synonymous A1CF 5 83036 6.02148E-5 41518 0 4.12324E-5
10-52569751-C-A p.Thr512Thr synonymous A1CF 1 83036 1.2043E-5 41518 0 8.24647E-6
10-52569752-G-A p.Thr512Met missense A1CF 4 83042 4.81684E-5 41521 0 3.18654E-5
10-52569761-T-G p.Glu509Ala missense A1CF 1 83062 1.20392E-5 41531 0 5.04032E-4
10-52569773-G-T p.Ala505Asp missense A1CF 1 83094 1.20346E-5 41547 0 NA
10-52569784-T-C p.Pro501Pro synonymous A1CF 6 83116 7.21883E-5 41558 0 5.04032E-4
10-52570795-C-T c.1484+5G>A splice_region A1CF 1 82678 1.20951E-5 41339 0 3.18492E-5
10-52570796-G-A c.1484+4C>T splice_region A1CF 8 82692 9.67445E-5 41346 0 3.38151E-4
10-52570803-G-A p.Ala494Val missense A1CF 4 82778 4.8322E-5 41389 0 3.20177E-5
10-52570814-G-A p.Ser490Ser synonymous A1CF 2 82812 2.41511E-5 41406 0 NA
10-52570819-C-T p.Ala489Thr missense A1CF 2 82806 2.41528E-5 41403 0 NA
10-52570829-A-G p.Ile485Ile synonymous A1CF 2 82844 2.41418E-5 41422 0 3.98819E-6
10-52570845-A-G p.Leu480Ser missense A1CF 1 82894 1.20636E-5 41447 0 8.27965E-6
10-52570851-A-G p.Leu478Pro missense A1CF 1 82896 1.20633E-5 41448 0 NA
10-52570872-A-G p.Ile471Thr missense A1CF 10 82866 1.20677E-4 41433 0 1.59205E-4
10-52570903-C-T p.Gly461Arg missense A1CF 4 82712 4.83606E-5 41356 0 NA
10-52570924-T-A p.Ile454Phe missense A1CF 9 82488 1.09107E-4 41244 0 3.18532E-5
10-52570938-T-A c.1348-2A>T splice_acceptor A1CF 1 82214 1.21634E-5 41107 0 NA
10-52573625-C-T p.Ala447Thr missense A1CF 4 83192 4.80815E-5 41596 0 6.25E-4
10-52573634-T-C p.Ile444Val missense A1CF 2 83208 2.40361E-5 41604 0 1.19406E-5
10-52573637-C-T p.Gly443Arg missense A1CF 1 83208 1.20181E-5 41604 0 3.98019E-6
10-52573643-G-A p.Pro441Ser missense A1CF 1 83226 1.20155E-5 41613 0 NA
10-52573650-T-G p.Thr438Thr synonymous A1CF 1 83204 1.20187E-5 41602 0 3.97994E-6
10-52573653-G-T p.Val437Val synonymous A1CF 1 83194 1.20201E-5 41597 0 NA
10-52573664-T-C p.Met434Val missense A1CF 8 83198 9.61562E-5 41599 0 3.29761E-5
10-52573675-T-C p.Glu430Gly missense A1CF 1 83154 1.20259E-5 41577 0 NA
10-52573689-A-G p.Ile425Ile synonymous A1CF 1 83106 1.20328E-5 41553 0 NA
10-52573698-G-A p.Leu422Leu synonymous A1CF 7140 82944 0.0860822 41472 343 0.125625
10-52573699-A-T p.Leu422His missense A1CF 1 83044 1.20418E-5 41522 0 7.5655E-5
10-52573711-C-T p.Arg418Lys missense A1CF 1 82960 1.2054E-5 41480 0 3.98419E-6
10-52573718-C-T p.Asp416Asn missense A1CF 1 82846 1.20706E-5 41423 0 NA
10-52573722-T-C p.Lys414Lys synonymous A1CF 1 82812 1.20755E-5 41406 0 7.96972E-6
10-52573729-T-C p.Gln412Arg missense A1CF 1 82752 1.20843E-5 41376 0 NA
10-52573735-C-T p.Gly410Glu missense A1CF 1 82732 1.20872E-5 41366 0 NA
10-52573738-C-T p.Arg409Gln missense A1CF 1 82670 1.20963E-5 41335 0 3.58817E-5
10-52573738-C-G p.Arg409Pro missense A1CF 1 82670 1.20963E-5 41335 0 NA
10-52573739-G-T p.Arg409Arg synonymous A1CF 1 82644 1.21001E-5 41322 0 NA
10-52573746-G-T p.Gly406Gly synonymous A1CF 32 82630 3.87269E-4 41315 1 0.00101438
10-52573749-T-G p.Thr405Thr synonymous A1CF 4 82642 4.84015E-5 41321 0 6.25E-4
10-52573750-G-A p.Thr405Ile missense A1CF 1 82640 1.21007E-5 41320 0 3.98664E-6
10-52573766-C-A p.Gly400Cys missense A1CF 1 82684 1.20942E-5 41342 0 NA
10-52573768-C-T p.Arg399His missense A1CF 2 82694 2.41856E-5 41347 0 5.03525E-4
10-52573772-C-T p.Gly398Ser missense A1CF 512 82670 0.0061933 41335 3 0.00535271
10-52573773-G-A p.Gly397Gly synonymous A1CF 4 82680 4.83793E-5 41340 0 6.25782E-4
10-52573775-C-G p.Gly397Arg missense A1CF 1 82708 1.20907E-5 41354 0 NA
10-52573787-C-T p.Val393Met missense A1CF 1 82760 1.20831E-5 41380 0 NA
10-52573792-G-A p.Ala391Val missense A1CF 2 82732 2.41744E-5 41366 0 4.95933E-5
10-52573794-A-G p.Ala390Ala synonymous A1CF 1 82742 1.20858E-5 41371 0 7.9783E-6
10-52573797-C-T p.Gly389Gly splice_region+synonymous A1CF 1 82730 1.20875E-5 41365 0 NA
10-52573806-T-C c.1166-8A>G splice_region A1CF 1 82632 1.21018E-5 41316 0 7.99661E-6
10-52573820-T-C p.Ile382Val missense+splice_region A1CF 1 82324 1.21471E-5 41162 0 4.00237E-6
10-52573830-C-T c.1142-8G>A splice_region A1CF 5 81956 6.10083E-5 40978 0 9.19963E-5
10-52575758-G-A c.1141+8C>T splice_region A1CF 1 83242 1.20132E-5 41621 0 8.31006E-6
10-52575783-C-T p.Arg375Gln missense A1CF 6 83326 7.20063E-5 41663 0 2.99019E-4
10-52575785-G-A p.Ile374Ile synonymous A1CF 2 83330 2.4001E-5 41665 0 NA
10-52575795-C-G p.Arg371Thr missense A1CF 5 83336 5.99981E-5 41668 0 1.99179E-5
10-52575803-G-A p.Leu368Leu synonymous A1CF 1 83354 1.1997E-5 41677 0 NA
10-52575814-T-G p.Lys365Gln missense A1CF 5 83362 5.99794E-5 41681 0 1.40158E-4
10-52575834-C-G p.Ser358Thr missense A1CF 1 83350 1.19976E-5 41675 0 NA
10-52575855-TG-T p.Gln351fs frameshift A1CF 4 83344 4.79939E-5 41672 0 NA
10-52575857-G-T p.Pro350Pro synonymous A1CF 2 83346 2.39964E-5 41673 0 7.1684E-5
10-52575861-G-A p.Ala349Val missense A1CF 1 83340 1.1999E-5 41670 0 3.18573E-5
10-52575866-G-A p.Phe347Phe synonymous A1CF 3 83334 3.59997E-5 41667 0 8.25191E-6
10-52575875-A-C p.Ala344Ala synonymous A1CF 1 83326 1.20011E-5 41663 0 3.98371E-6
10-52575876-G-C p.Ala344Gly missense A1CF 1 83324 1.20013E-5 41662 0 3.98346E-6
10-52575888-G-T p.Thr340Asn missense A1CF 3 83294 3.6017E-5 41647 0 2.78942E-5
10-52575889-T-C p.Thr340Ala missense A1CF 1 83288 1.20065E-5 41644 0 8.25764E-6
10-52575897-G-A p.Pro337Leu missense A1CF 3 83264 3.603E-5 41632 0 3.18799E-5
10-52575899-A-G p.Asp336Asp synonymous A1CF 21 83252 2.52246E-4 41626 0 5.58196E-5
10-52575905-A-C p.Val334Val synonymous A1CF 1 83224 1.20158E-5 41612 0 NA
10-52575911-G-A p.Gly332Gly synonymous A1CF 1 83214 1.20172E-5 41607 0 8.25682E-6
10-52575912-CC-AG p.Gly332Leu missense A1CF 1 83188 1.2021E-5 41594 0 NA
10-52575912-CCC-AGA p.LeuGly331PheLeu missense A1CF 1 83188 1.2021E-5 41594 0 NA
10-52575914-C-A p.Leu331Phe missense A1CF 1 83182 1.20218E-5 41591 0 NA
10-52575938-C-A p.Leu323Leu synonymous A1CF 1 83106 1.20328E-5 41553 0 3.98584E-6
10-52575940-G-C p.Leu323Val missense A1CF 1 83092 1.20349E-5 41546 0 NA
10-52575941-C-T p.Met322Ile missense A1CF 5 83086 6.01786E-5 41543 0 3.58754E-5
10-52575944-G-A p.Thr321Thr synonymous A1CF 3 83076 3.61115E-5 41538 0 3.98616E-6
10-52575945-G-C p.Thr321Ser missense A1CF 1 83070 1.2038E-5 41535 0 1.07401E-4
10-52575962-G-T p.Gly315Gly synonymous A1CF 1 83008 1.2047E-5 41504 0 3.1886E-5
10-52575966-C-T p.Arg314Gln missense A1CF 1 83000 1.20482E-5 41500 0 3.18715E-5
10-52576013-G-T p.Val298Val synonymous A1CF 1 82712 1.20901E-5 41356 0 4.00035E-6
10-52576020-A-G p.Ile296Thr missense A1CF 1 82628 1.21024E-5 41314 0 8.26761E-6
10-52576025-G-A p.Ser294Ser synonymous A1CF 238 82560 0.00288275 41280 0 0.00258093
10-52576026-G-A p.Ser294Phe missense A1CF 2 82544 2.42295E-5 41272 0 3.18532E-5
10-52576031-A-T p.Asp292Glu missense A1CF 1 82472 1.21253E-5 41236 0 NA
10-52580307-C-T c.867+5G>A splice_region A1CF 1 82048 1.2188E-5 41024 0 NA
10-52580317-C-T p.Gly288Ser missense A1CF 1 82278 1.21539E-5 41139 0 NA
10-52580318-A-G p.Asn287Asn synonymous A1CF 2 82286 2.43055E-5 41143 0 1.43977E-4
10-52580324-A-T p.Ala285Ala synonymous A1CF 2 82394 2.42736E-5 41197 0 NA
10-52580325-G-A p.Ala285Val missense A1CF 1 82428 1.21318E-5 41214 0 NA
10-52580367-A-G p.Val271Ala missense A1CF 1 82628 1.21024E-5 41314 0 NA
10-52580396-C-A p.Arg261Ser missense A1CF 1 82484 1.21236E-5 41242 0 NA
10-52580396-C-T p.Arg261Arg synonymous A1CF 1 82484 1.21236E-5 41242 0 3.18573E-5
10-52587884-G-A c.769+7C>T splice_region A1CF 12 81592 1.47073E-4 40796 0 7.85441E-4
10-52587892-T-C p.Pro256Pro splice_region+synonymous A1CF 1 81860 1.2216E-5 40930 0 NA
10-52587902-T-C p.Asn253Ser missense A1CF 6 82090 7.30905E-5 41045 0 4.52604E-5
10-52587904-G-A p.Asn252Asn synonymous A1CF 1 82138 1.21746E-5 41069 0 NA
10-52587905-T-C p.Asn252Ser missense A1CF 2 82146 2.43469E-5 41073 0 NA
10-52587909-ATTCCT-A p.Lys249fs frameshift A1CF 1 82104 1.21797E-5 41052 0 NA
10-52587912-C-T p.Glu250Lys missense A1CF 1 82044 1.21886E-5 41022 0 NA
10-52587916-T-A p.Glu248Asp missense A1CF 1 82022 1.21919E-5 41011 0 NA
10-52587923-A-G p.Met246Thr missense A1CF 2 81878 2.44266E-5 40939 0 4.48789E-5
10-52587959-T-A p.Tyr234Phe missense A1CF 2 82508 2.42401E-5 41254 0 NA
10-52587961-T-C p.Leu233Leu synonymous A1CF 1 82510 1.21197E-5 41255 0 1.99831E-5
10-52587964-G-A p.Ile232Ile synonymous A1CF 80 82498 9.6972E-4 41249 0 0.001875
10-52587981-T-C p.Met227Val missense A1CF 1 82414 1.21339E-5 41207 0 NA
10-52588010-T-A p.Glu217Val missense A1CF 3 82318 3.6444E-5 41159 0 6.37024E-5
10-52588045-C-T p.Gln205Gln synonymous A1CF 32 81540 3.92445E-4 40770 0 2.50942E-4
10-52588054-T-A p.Gly202Gly splice_region+synonymous A1CF 1 81098 1.23308E-5 40549 0 8.65202E-6
10-52595826-T-TTGCTA c.604+7_604+8insTAGCA splice_region A1CF 2 82894 2.41272E-5 41447 0 NA
10-52595828-G-A c.604+6C>T splice_region A1CF 1 82894 1.20636E-5 41447 0 4.16535E-6
10-52595838-T-A p.Leu200Leu synonymous A1CF 1 82950 1.20555E-5 41475 0 NA
10-52595853-C-T p.Ala195Ala synonymous A1CF 646 83034 0.00777995 41517 10 0.0167208
10-52595862-A-G p.Ala192Ala synonymous A1CF 1 83084 1.2036E-5 41542 0 NA
10-52595869-C-T p.Arg190Gln missense A1CF 2 83068 2.40767E-5 41534 0 3.99667E-6
10-52595878-T-C p.Glu187Gly missense A1CF 1 83074 1.20375E-5 41537 0 8.26692E-6
10-52595893-G-A p.Ala182Val missense A1CF 1 83108 1.20325E-5 41554 0 NA
10-52595910-G-T p.Thr176Thr synonymous A1CF 74 83116 8.90322E-4 41558 1 0.00251762
10-52595925-G-A p.Ser171Ser synonymous A1CF 1 83082 1.20363E-5 41541 0 2.47247E-5
10-52595934-G-C p.Val168Val synonymous A1CF 2 83074 2.40749E-5 41537 0 3.98251E-5
10-52595936-C-T p.Val168Ile missense A1CF 1 83054 1.20404E-5 41527 0 3.18573E-5
10-52595937-G-A p.Ile167Ile synonymous A1CF 1 83054 1.20404E-5 41527 0 3.98289E-6
10-52595941-A-G p.Val166Ala missense A1CF 1 83048 1.20412E-5 41524 0 NA
10-52595945-C-T p.Asp165Asn missense A1CF 1 83030 1.20438E-5 41515 0 6.37105E-5
10-52595946-G-A p.Val164Val synonymous A1CF 1 83014 1.20462E-5 41507 0 8.24226E-6
10-52595963-C-A p.Val159Phe missense A1CF 3 82942 3.61699E-5 41471 0 3.18552E-5
10-52595976-C-T p.Ser154Ser synonymous A1CF 87 82778 0.001051 41389 0 0.00264466
10-52595977-G-A p.Ser154Leu missense A1CF 1 82756 1.20837E-5 41378 0 1.65011E-5
10-52595978-A-G p.Ser154Pro missense A1CF 67 82744 8.09726E-4 41372 0 0.00125
10-52595983-A-G p.Ile152Thr missense A1CF 1 82752 1.20843E-5 41376 0 NA
10-52595996-T-C p.Lys148Glu missense A1CF 1 82592 1.21077E-5 41296 0 NA
10-52595998-T-C p.Lys147Arg missense A1CF 1 82562 1.21121E-5 41281 0 3.98848E-6
10-52596004-T-C p.Lys145Arg missense A1CF 4 82426 4.85284E-5 41213 0 8.25928E-6
10-52596028-C-T p.Arg137Gln missense A1CF 2 82274 2.4309E-5 41137 0 3.30814E-5
10-52596029-G-T p.Arg137Arg synonymous A1CF 1 82258 1.21569E-5 41129 0 NA
10-52596045-G-A p.Ala131Ala synonymous A1CF 1 82268 1.21554E-5 41134 0 NA
10-52596047-C-T p.Ala131Thr missense A1CF 3 82252 3.64733E-5 41126 0 5.03525E-4
10-52596064-C-T p.Arg125His missense A1CF 3 82214 3.64901E-5 41107 0 3.18674E-5
10-52596064-C-A p.Arg125Leu missense A1CF 1 82214 1.21634E-5 41107 0 NA
10-52596065-G-A p.Arg125Cys missense A1CF 2 82206 2.43291E-5 41103 0 6.37592E-5
10-52596068-C-A p.Gly124Trp missense A1CF 9 82210 1.09476E-4 41105 0 3.36185E-5
10-52596070-T-C p.Asn123Ser missense+splice_region A1CF 1 82218 1.21628E-5 41109 0 4.08727E-6
10-52596077-A-C c.366-5T>G splice_region A1CF 1 82182 1.21681E-5 41091 0 NA
10-52601634-T-C p.Asn118Ser missense A1CF 1 82800 1.20773E-5 41400 0 NA
10-52601645-C-G p.Lys114Asn missense A1CF 40 82838 4.8287E-4 41419 0 3.80058E-4
10-52601651-T-G p.Ala112Ala synonymous A1CF 1 82886 1.20648E-5 41443 0 NA
10-52601672-A-C p.Asn105Lys missense A1CF 2 82940 2.41138E-5 41470 0 NA
10-52601674-T-C p.Asn105Asp missense A1CF 1 82950 1.20555E-5 41475 0 NA
10-52601702-A-G p.Asn95Asn synonymous A1CF 79 82982 9.52014E-4 41491 0 0.00133766
10-52601750-G-A p.Ile79Ile splice_region+synonymous A1CF 7 82516 8.4832E-5 41258 0 5.04541E-4
10-52601759-G-A c.235-7C>T splice_region A1CF 1 82392 1.21371E-5 41196 0 4.03229E-6
10-52603754-A-G p.Cys76Cys synonymous A1CF 519 83122 0.00624383 41561 6 0.00558484
10-52603760-T-G p.Pro74Pro synonymous A1CF 1 83144 1.20273E-5 41572 0 7.43458E-5
10-52603765-T-C p.Ile73Val missense A1CF 4 83134 4.81151E-5 41567 0 1.59368E-4
10-52603784-G-A p.Asp66Asp synonymous A1CF 1 83114 1.20317E-5 41557 0 NA
10-52603826-A-AG p.Glu53fs frameshift A1CF 1 82998 1.20485E-5 41499 0 3.18492E-5
10-52603829-G-C p.Pro51Pro synonymous A1CF 1 82998 1.20485E-5 41499 0 NA
10-52603835-A-G p.Ala49Ala synonymous A1CF 2 82986 2.41005E-5 41493 1 NA
10-52603844-A-G p.Gly46Gly synonymous A1CF 1 83042 1.20421E-5 41521 0 3.18512E-5
10-52603852-G-C p.Pro44Ala missense A1CF 1 83040 1.20424E-5 41520 0 NA
10-52603853-A-T p.Pro43Pro synonymous A1CF 4 83040 4.81696E-5 41520 0 3.18634E-5
10-52603874-T-C p.Gly36Gly synonymous A1CF 397 83072 0.00477899 41536 3 0.00786574
10-52610437-A-G p.Thr37Thr synonymous A1CF 2 82740 2.41721E-5 41370 0 NA
10-52610477-T-C p.Lys24Arg missense A1CF 1 82844 1.20709E-5 41422 0 3.18512E-5
10-52610497-GC-G p.Ser17fs frameshift A1CF 1 82772 1.20814E-5 41386 0 NA
10-52610500-C-T p.Met1? start_lost A1CF 2 82776 2.41616E-5 41388 0 3.18471E-5
10-52610506-C-T p.Ala14Ala synonymous A1CF 3 82736 3.62599E-5 41368 0 1.19449E-5
10-52610507-G-A p.Ala14Val missense A1CF 3 82718 3.62678E-5 41359 0 1.56559E-4
10-52610517-C-T p.Glu11Lys missense A1CF 3 82734 3.62608E-5 41367 0 1.64813E-5
10-52610519-G-C p.Pro10Arg missense A1CF 3 82712 3.62704E-5 41356 0 3.98149E-6
10-52610520-G-C p.Pro10Ala missense A1CF 1 82706 1.2091E-5 41353 0 6.37064E-5
10-52610521-G-A p.Cys9Cys synonymous A1CF 1 82708 1.20907E-5 41354 0 8.24158E-6
10-52610525-G-C p.Thr8Arg missense A1CF 1 82706 1.2091E-5 41353 0 3.98175E-6
10-52610533-A-G p.Cys5Cys synonymous A1CF 2 82700 2.41838E-5 41350 0 NA
10-52610536-C-T c.-34G>A 5_prime_UTR_premature_start_codon_gain A1CF 4 82708 4.83629E-5 41354 0 1.64905E-5
10-52610561-T-C c.-14A>G 5_prime_UTR_premature_start_codon_gain A1CF 1 82630 1.21021E-5 41315 0 NA
10-52610567-C-A c.-20G>T splice_region A1CF 3 82582 3.63275E-5 41291 0 2.22887E-4
10-52619595-T-C c.99+7A>G splice_region A1CF 1 81790 1.22264E-5 40895 0 NA
10-52619620-T-C p.Thr27Thr synonymous A1CF 6 82316 7.28898E-5 41158 0 9.55475E-5
10-52619625-G-A p.Arg26Cys missense A1CF 1 82374 1.21398E-5 41187 0 NA
10-52619635-T-C p.Ala22Ala synonymous A1CF 1 82524 1.21177E-5 41262 0 NA
10-52619637-C-T p.Ala22Thr missense A1CF 1 82530 1.21168E-5 41265 0 NA
10-52619639-C-T p.Arg21His missense A1CF 1 82560 1.21124E-5 41280 0 8.26323E-6
10-52619662-G-A p.Gly13Gly synonymous A1CF 1 82680 1.20948E-5 41340 0 8.26132E-6
10-52619665-G-A p.Ser12Ser synonymous A1CF 5 82676 6.0477E-5 41338 0 0.00100705
10-52619671-T-G p.Gly10Gly synonymous A1CF 1 82660 1.20978E-5 41330 0 1.59256E-4
10-52619679-C-T p.Gly8Arg missense A1CF 1 82648 1.20995E-5 41324 0 5.03525E-4
10-52619686-G-C p.His5Gln missense A1CF 2 82620 2.42072E-5 41310 0 NA
10-52619687-T-C p.His5Arg missense A1CF 1 82604 1.2106E-5 41302 0 2.48143E-5
10-52619743-T-C c.-43A>G splice_region A1CF 1 81064 1.23359E-5 40532 0 3.1841E-5
10-52619744-C-A c.-44G>T splice_region A1CF 1 81022 1.23423E-5 40511 0 NA
10-52619749-A-G c.-45-4T>C splice_region A1CF 2 80606 2.4812E-5 40303 0 9.55475E-5
10-52619753-C-A c.-45-8G>T splice_region A1CF 1 80312 1.24514E-5 40156 0 NA
10-52645391-G-A c.-144C>T 5_prime_UTR_premature_start_codon_gain A1CF 2 2940 6.80272E-4 1470 0 0.00191144