Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125481565T>ACA358132487FAT4c.12649T>A (p.Leu4217Met)
c.7420T>A (p.Leu2474Met)
c.7366T>A (p.Leu2456Met)
c.12643T>A (p.Leu4215Met)
4g.125481565T>CCA441204526FAT4c.12649T>C (p.Leu4217=)
c.7420T>C (p.Leu2474=)
c.7366T>C (p.Leu2456=)
c.12643T>C (p.Leu4215=)
 gnomAD v4
4g.125481565T>GCA358132488FAT4c.12649T>G (p.Leu4217Val)
c.7420T>G (p.Leu2474Val)
c.7366T>G (p.Leu2456Val)
c.12643T>G (p.Leu4215Val)
 dbSNP gnomAD v4
4g.125481566T>ACA358132489FAT4c.12650T>A (p.Leu4217Ter)
c.7421T>A (p.Leu2474Ter)
c.7367T>A (p.Leu2456Ter)
c.12644T>A (p.Leu4215Ter)
4g.125481566T>CCA358132490FAT4c.12650T>C (p.Leu4217Ser)
c.7421T>C (p.Leu2474Ser)
c.7367T>C (p.Leu2456Ser)
c.12644T>C (p.Leu4215Ser)
4g.125481566T>GCA358132491FAT4c.12650T>G (p.Leu4217Trp)
c.7421T>G (p.Leu2474Trp)
c.7367T>G (p.Leu2456Trp)
c.12644T>G (p.Leu4215Trp)
4g.125481567G>ACA441204527FAT4c.12651G>A (p.Leu4217=)
c.7422G>A (p.Leu2474=)
c.7368G>A (p.Leu2456=)
c.12645G>A (p.Leu4215=)
4g.125481567G>CCA358132492FAT4c.12651G>C (p.Leu4217Phe)
c.7422G>C (p.Leu2474Phe)
c.7368G>C (p.Leu2456Phe)
c.12645G>C (p.Leu4215Phe)
4g.125481567G>TCA358132493FAT4c.12651G>T (p.Leu4217Phe)
c.7422G>T (p.Leu2474Phe)
c.7368G>T (p.Leu2456Phe)
c.12645G>T (p.Leu4215Phe)
 COSMIC COSMIC COSMIC
4g.125481568G>ACA358132494FAT4c.12652G>A (p.Asp4218Asn)
c.7423G>A (p.Asp2475Asn)
c.7369G>A (p.Asp2457Asn)
c.12646G>A (p.Asp4216Asn)
4g.125481568G>CCA358132495FAT4c.12652G>C (p.Asp4218His)
c.7423G>C (p.Asp2475His)
c.7369G>C (p.Asp2457His)
c.12646G>C (p.Asp4216His)
4g.125481568G>TCA358132496FAT4c.12652G>T (p.Asp4218Tyr)
c.7423G>T (p.Asp2475Tyr)
c.7369G>T (p.Asp2457Tyr)
c.12646G>T (p.Asp4216Tyr)
4g.125481569A>CCA358132498FAT4c.12653A>C (p.Asp4218Ala)
c.7424A>C (p.Asp2475Ala)
c.7370A>C (p.Asp2457Ala)
c.12647A>C (p.Asp4216Ala)
4g.125481569A>GCA358132499FAT4c.12653A>G (p.Asp4218Gly)
c.7424A>G (p.Asp2475Gly)
c.7370A>G (p.Asp2457Gly)
c.12647A>G (p.Asp4216Gly)
4g.125481569A>TCA358132497FAT4c.12653A>T (p.Asp4218Val)
c.7424A>T (p.Asp2475Val)
c.7370A>T (p.Asp2457Val)
c.12647A>T (p.Asp4216Val)
4g.125481570C>ACA358132500FAT4c.12654C>A (p.Asp4218Glu)
c.7425C>A (p.Asp2475Glu)
c.7371C>A (p.Asp2457Glu)
c.12648C>A (p.Asp4216Glu)
4g.125481570C>GCA358132501FAT4c.12654C>G (p.Asp4218Glu)
c.7425C>G (p.Asp2475Glu)
c.7371C>G (p.Asp2457Glu)
c.12648C>G (p.Asp4216Glu)
4g.125481570C>TCA441204528FAT4c.12654C>T (p.Asp4218=)
c.7425C>T (p.Asp2475=)
c.7371C>T (p.Asp2457=)
c.12648C>T (p.Asp4216=)
4g.125481571T>ACA358132502FAT4c.12655T>A (p.Tyr4219Asn)
c.7426T>A (p.Tyr2476Asn)
c.7372T>A (p.Tyr2458Asn)
c.12649T>A (p.Tyr4217Asn)
4g.125481571T>CCA358132503FAT4c.12655T>C (p.Tyr4219His)
c.7426T>C (p.Tyr2476His)
c.7372T>C (p.Tyr2458His)
c.12649T>C (p.Tyr4217His)
4g.125481571T>GCA358132504FAT4c.12655T>G (p.Tyr4219Asp)
c.7426T>G (p.Tyr2476Asp)
c.7372T>G (p.Tyr2458Asp)
c.12649T>G (p.Tyr4217Asp)
4g.125481572A=CA1491668599FAT4c.12656A= (p.Tyr4219=)
c.7427A= (p.Tyr2476=)
c.7373A= (p.Tyr2458=)
c.12650A= (p.Tyr4217=)
4g.125481572A>CCA358132505FAT4c.12656A>C (p.Tyr4219Ser)
c.7427A>C (p.Tyr2476Ser)
c.7373A>C (p.Tyr2458Ser)
c.12650A>C (p.Tyr4217Ser)
4g.125481572A>GCA358132506FAT4c.12656A>G (p.Tyr4219Cys)
c.7427A>G (p.Tyr2476Cys)
c.7373A>G (p.Tyr2458Cys)
c.12650A>G (p.Tyr4217Cys)
 dbSNP
4g.125481572A>TCA358132507FAT4c.12656A>T (p.Tyr4219Phe)
c.7427A>T (p.Tyr2476Phe)
c.7373A>T (p.Tyr2458Phe)
c.12650A>T (p.Tyr4217Phe)
4g.125481573C>ACA358132508FAT4c.12657C>A (p.Tyr4219Ter)
c.7428C>A (p.Tyr2476Ter)
c.7374C>A (p.Tyr2458Ter)
c.12651C>A (p.Tyr4217Ter)
4g.125481573C=CA1491668603FAT4c.12657C= (p.Tyr4219=)
c.7428C= (p.Tyr2476=)
c.7374C= (p.Tyr2458=)
c.12651C= (p.Tyr4217=)
4g.125481573C>GCA358132509FAT4c.12657C>G (p.Tyr4219Ter)
c.7428C>G (p.Tyr2476Ter)
c.7374C>G (p.Tyr2458Ter)
c.12651C>G (p.Tyr4217Ter)
4g.125481573C>TCA441204529FAT4c.12657C>T (p.Tyr4219=)
c.7428C>T (p.Tyr2476=)
c.7374C>T (p.Tyr2458=)
c.12651C>T (p.Tyr4217=)
 dbSNP gnomAD v2 gnomAD v4
4g.125481574C>ACA358132510FAT4c.12658C>A (p.His4220Asn)
c.7429C>A (p.His2477Asn)
c.7375C>A (p.His2459Asn)
c.12652C>A (p.His4218Asn)
4g.125481574C>GCA358132511FAT4c.12658C>G (p.His4220Asp)
c.7429C>G (p.His2477Asp)
c.7375C>G (p.His2459Asp)
c.12652C>G (p.His4218Asp)
4g.125481574C>TCA358132512FAT4c.12658C>T (p.His4220Tyr)
c.7429C>T (p.His2477Tyr)
c.7375C>T (p.His2459Tyr)
c.12652C>T (p.His4218Tyr)
4g.125481575A>CCA358132515FAT4c.12659A>C (p.His4220Pro)
c.7430A>C (p.His2477Pro)
c.7376A>C (p.His2459Pro)
c.12653A>C (p.His4218Pro)
4g.125481575A>GCA358132514FAT4c.12659A>G (p.His4220Arg)
c.7430A>G (p.His2477Arg)
c.7376A>G (p.His2459Arg)
c.12653A>G (p.His4218Arg)
4g.125481575A>TCA358132513FAT4c.12659A>T (p.His4220Leu)
c.7430A>T (p.His2477Leu)
c.7376A>T (p.His2459Leu)
c.12653A>T (p.His4218Leu)
4g.125481576C>ACA358132516FAT4c.12660C>A (p.His4220Gln)
c.7431C>A (p.His2477Gln)
c.7377C>A (p.His2459Gln)
c.12654C>A (p.His4218Gln)
4g.125481576C>GCA358132517FAT4c.12660C>G (p.His4220Gln)
c.7431C>G (p.His2477Gln)
c.7377C>G (p.His2459Gln)
c.12654C>G (p.His4218Gln)
4g.125481576C>TCA441204530FAT4c.12660C>T (p.His4220=)
c.7431C>T (p.His2477=)
c.7377C>T (p.His2459=)
c.12654C>T (p.His4218=)
4g.125481577A=CA1491668608FAT4c.12661A= (p.Met4221=)
c.7432A= (p.Met2478=)
c.7378A= (p.Met2460=)
c.12655A= (p.Met4219=)
4g.125481577A>CCA358132518FAT4c.12661A>C (p.Met4221Leu)
c.7432A>C (p.Met2478Leu)
c.7378A>C (p.Met2460Leu)
c.12655A>C (p.Met4219Leu)
 gnomAD v4
4g.125481577A>GCA358132519FAT4c.12661A>G (p.Met4221Val)
c.7432A>G (p.Met2478Val)
c.7378A>G (p.Met2460Val)
c.12655A>G (p.Met4219Val)
 dbSNP
4g.125481577A>TCA358132520FAT4c.12661A>T (p.Met4221Leu)
c.7432A>T (p.Met2478Leu)
c.7378A>T (p.Met2460Leu)
c.12655A>T (p.Met4219Leu)
 gnomAD v4
4g.125481577_125481578delCA2672012550FAT4c.12661_12662del (p.Met4221GlufsTer4)
c.7432_7433del (p.Met2478GlufsTer4)
c.7378_7379del (p.Met2460GlufsTer4)
c.12655_12656del (p.Met4219GlufsTer4)
 gnomAD v4
4g.125481578T>ACA358132521FAT4c.12662T>A (p.Met4221Lys)
c.7433T>A (p.Met2478Lys)
c.7379T>A (p.Met2460Lys)
c.12656T>A (p.Met4219Lys)
4g.125481578T>CCA358132522FAT4c.12662T>C (p.Met4221Thr)
c.7433T>C (p.Met2478Thr)
c.7379T>C (p.Met2460Thr)
c.12656T>C (p.Met4219Thr)
 dbSNP
4g.125481578T>GCA358132523FAT4c.12662T>G (p.Met4221Arg)
c.7433T>G (p.Met2478Arg)
c.7379T>G (p.Met2460Arg)
c.12656T>G (p.Met4219Arg)
 gnomAD v4
4g.125481579G>ACA3074165FAT4c.12663G>A (p.Met4221Ile)
c.7434G>A (p.Met2478Ile)
c.7380G>A (p.Met2460Ile)
c.12657G>A (p.Met4219Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481579G>CCA358132524FAT4c.12663G>C (p.Met4221Ile)
c.7434G>C (p.Met2478Ile)
c.7380G>C (p.Met2460Ile)
c.12657G>C (p.Met4219Ile)
 dbSNP
4g.125481579G=CA1491668616FAT4c.12663G= (p.Met4221=)
c.7434G= (p.Met2478=)
c.7380G= (p.Met2460=)
c.12657G= (p.Met4219=)
4g.125481579G>TCA358132525FAT4c.12663G>T (p.Met4221Ile)
c.7434G>T (p.Met2478Ile)
c.7380G>T (p.Met2460Ile)
c.12657G>T (p.Met4219Ile)
 dbSNP
4g.125481580A=CA1491668619FAT4c.12664A= (p.Ser4222=)
c.7435A= (p.Ser2479=)
c.7381A= (p.Ser2461=)
c.12658A= (p.Ser4220=)
4g.125481580A>CCA358132526FAT4c.12664A>C (p.Ser4222Arg)
c.7435A>C (p.Ser2479Arg)
c.7381A>C (p.Ser2461Arg)
c.12658A>C (p.Ser4220Arg)
4g.125481580A>GCA358132527FAT4c.12664A>G (p.Ser4222Gly)
c.7435A>G (p.Ser2479Gly)
c.7381A>G (p.Ser2461Gly)
c.12658A>G (p.Ser4220Gly)
4g.125481580A>TCA358132528FAT4c.12664A>T (p.Ser4222Cys)
c.7435A>T (p.Ser2479Cys)
c.7381A>T (p.Ser2461Cys)
c.12658A>T (p.Ser4220Cys)
 dbSNP
4g.125481581G>ACA358132530FAT4c.12665G>A (p.Ser4222Asn)
c.7436G>A (p.Ser2479Asn)
c.7382G>A (p.Ser2461Asn)
c.12659G>A (p.Ser4220Asn)
4g.125481581G>CCA358132531FAT4c.12665G>C (p.Ser4222Thr)
c.7436G>C (p.Ser2479Thr)
c.7382G>C (p.Ser2461Thr)
c.12659G>C (p.Ser4220Thr)
4g.125481581G>TCA358132529FAT4c.12665G>T (p.Ser4222Ile)
c.7436G>T (p.Ser2479Ile)
c.7382G>T (p.Ser2461Ile)
c.12659G>T (p.Ser4220Ile)
4g.125481582T>ACA358132532FAT4c.12666T>A (p.Ser4222Arg)
c.7437T>A (p.Ser2479Arg)
c.7383T>A (p.Ser2461Arg)
c.12660T>A (p.Ser4220Arg)
4g.125481582T>CCA441204531FAT4c.12666T>C (p.Ser4222=)
c.7437T>C (p.Ser2479=)
c.7383T>C (p.Ser2461=)
c.12660T>C (p.Ser4220=)
4g.125481582T>GCA358132533FAT4c.12666T>G (p.Ser4222Arg)
c.7437T>G (p.Ser2479Arg)
c.7383T>G (p.Ser2461Arg)
c.12660T>G (p.Ser4220Arg)
4g.125481583C>ACA358132534FAT4c.12667C>A (p.Gln4223Lys)
c.7438C>A (p.Gln2480Lys)
c.7384C>A (p.Gln2462Lys)
c.12661C>A (p.Gln4221Lys)
 gnomAD v4 COSMIC COSMIC
4g.125481583C>GCA358132535FAT4c.12667C>G (p.Gln4223Glu)
c.7438C>G (p.Gln2480Glu)
c.7384C>G (p.Gln2462Glu)
c.12661C>G (p.Gln4221Glu)
4g.125481583C>TCA358132536FAT4c.12667C>T (p.Gln4223Ter)
c.7438C>T (p.Gln2480Ter)
c.7384C>T (p.Gln2462Ter)
c.12661C>T (p.Gln4221Ter)
 COSMIC COSMIC
4g.125481584A>CCA358132537FAT4c.12668A>C (p.Gln4223Pro)
c.7439A>C (p.Gln2480Pro)
c.7385A>C (p.Gln2462Pro)
c.12662A>C (p.Gln4221Pro)
4g.125481584A>GCA358132538FAT4c.12668A>G (p.Gln4223Arg)
c.7439A>G (p.Gln2480Arg)
c.7385A>G (p.Gln2462Arg)
c.12662A>G (p.Gln4221Arg)
4g.125481584A>TCA358132539FAT4c.12668A>T (p.Gln4223Leu)
c.7439A>T (p.Gln2480Leu)
c.7385A>T (p.Gln2462Leu)
c.12662A>T (p.Gln4221Leu)
4g.125481585G>ACA441204532FAT4c.12669G>A (p.Gln4223=)
c.7440G>A (p.Gln2480=)
c.7386G>A (p.Gln2462=)
c.12663G>A (p.Gln4221=)
4g.125481585G>CCA358132540FAT4c.12669G>C (p.Gln4223His)
c.7440G>C (p.Gln2480His)
c.7386G>C (p.Gln2462His)
c.12663G>C (p.Gln4221His)
4g.125481585G>TCA358132541FAT4c.12669G>T (p.Gln4223His)
c.7440G>T (p.Gln2480His)
c.7386G>T (p.Gln2462His)
c.12663G>T (p.Gln4221His)
4g.125481586A>CCA358132542FAT4c.12670A>C (p.Asn4224His)
c.7441A>C (p.Asn2481His)
c.7387A>C (p.Asn2463His)
c.12664A>C (p.Asn4222His)
4g.125481586A>GCA358132543FAT4c.12670A>G (p.Asn4224Asp)
c.7441A>G (p.Asn2481Asp)
c.7387A>G (p.Asn2463Asp)
c.12664A>G (p.Asn4222Asp)
4g.125481586A>TCA358132544FAT4c.12670A>T (p.Asn4224Tyr)
c.7441A>T (p.Asn2481Tyr)
c.7387A>T (p.Asn2463Tyr)
c.12664A>T (p.Asn4222Tyr)
4g.125481587A=CA1491668622FAT4c.12671A= (p.Asn4224=)
c.7442A= (p.Asn2481=)
c.7388A= (p.Asn2463=)
c.12665A= (p.Asn4222=)
4g.125481587A>CCA358132545FAT4c.12671A>C (p.Asn4224Thr)
c.7442A>C (p.Asn2481Thr)
c.7388A>C (p.Asn2463Thr)
c.12665A>C (p.Asn4222Thr)
4g.125481587A>GCA104870362FAT4c.12671A>G (p.Asn4224Ser)
c.7442A>G (p.Asn2481Ser)
c.7388A>G (p.Asn2463Ser)
c.12665A>G (p.Asn4222Ser)
 dbSNP gnomAD v4
4g.125481587A>TCA358132546FAT4c.12671A>T (p.Asn4224Ile)
c.7442A>T (p.Asn2481Ile)
c.7388A>T (p.Asn2463Ile)
c.12665A>T (p.Asn4222Ile)
4g.125481588T>ACA358132547FAT4c.12672T>A (p.Asn4224Lys)
c.7443T>A (p.Asn2481Lys)
c.7389T>A (p.Asn2463Lys)
c.12666T>A (p.Asn4222Lys)
 gnomAD v4
4g.125481588T>CCA441204533FAT4c.12672T>C (p.Asn4224=)
c.7443T>C (p.Asn2481=)
c.7389T>C (p.Asn2463=)
c.12666T>C (p.Asn4222=)
4g.125481588T>GCA358132548FAT4c.12672T>G (p.Asn4224Lys)
c.7443T>G (p.Asn2481Lys)
c.7389T>G (p.Asn2463Lys)
c.12666T>G (p.Asn4222Lys)
4g.125481589G>ACA358132549FAT4c.12673G>A (p.Glu4225Lys)
c.7444G>A (p.Glu2482Lys)
c.7390G>A (p.Glu2464Lys)
c.12667G>A (p.Glu4223Lys)
4g.125481589G>CCA358132550FAT4c.12673G>C (p.Glu4225Gln)
c.7444G>C (p.Glu2482Gln)
c.7390G>C (p.Glu2464Gln)
c.12667G>C (p.Glu4223Gln)
 gnomAD v4
4g.125481589G>TCA358132551FAT4c.12673G>T (p.Glu4225Ter)
c.7444G>T (p.Glu2482Ter)
c.7390G>T (p.Glu2464Ter)
c.12667G>T (p.Glu4223Ter)
4g.125481590A>CCA358132552FAT4c.12674A>C (p.Glu4225Ala)
c.7445A>C (p.Glu2482Ala)
c.7391A>C (p.Glu2464Ala)
c.12668A>C (p.Glu4223Ala)
4g.125481590A>GCA358132553FAT4c.12674A>G (p.Glu4225Gly)
c.7445A>G (p.Glu2482Gly)
c.7391A>G (p.Glu2464Gly)
c.12668A>G (p.Glu4223Gly)
4g.125481590A>TCA358132554FAT4c.12674A>T (p.Glu4225Val)
c.7445A>T (p.Glu2482Val)
c.7391A>T (p.Glu2464Val)
c.12668A>T (p.Glu4223Val)
4g.125481591G>ACA441204534FAT4c.12675G>A (p.Glu4225=)
c.7446G>A (p.Glu2482=)
c.7392G>A (p.Glu2464=)
c.12669G>A (p.Glu4223=)
 gnomAD v4
4g.125481591G>CCA358132555FAT4c.12675G>C (p.Glu4225Asp)
c.7446G>C (p.Glu2482Asp)
c.7392G>C (p.Glu2464Asp)
c.12669G>C (p.Glu4223Asp)
 gnomAD v4
4g.125481591G>TCA358132556FAT4c.12675G>T (p.Glu4225Asp)
c.7446G>T (p.Glu2482Asp)
c.7392G>T (p.Glu2464Asp)
c.12669G>T (p.Glu4223Asp)
4g.125481592A=CA1491668628FAT4c.12676A= (p.Lys4226=)
c.7447A= (p.Lys2483=)
c.7393A= (p.Lys2465=)
c.12670A= (p.Lys4224=)
4g.125481592A>CCA3074166FAT4c.12676A>C (p.Lys4226Gln)
c.7447A>C (p.Lys2483Gln)
c.7393A>C (p.Lys2465Gln)
c.12670A>C (p.Lys4224Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481592A>GCA358132558FAT4c.12676A>G (p.Lys4226Glu)
c.7447A>G (p.Lys2483Glu)
c.7393A>G (p.Lys2465Glu)
c.12670A>G (p.Lys4224Glu)
4g.125481592A>TCA358132557FAT4c.12676A>T (p.Lys4226Ter)
c.7447A>T (p.Lys2483Ter)
c.7393A>T (p.Lys2465Ter)
c.12670A>T (p.Lys4224Ter)
4g.125481593A>CCA358132559FAT4c.12677A>C (p.Lys4226Thr)
c.7448A>C (p.Lys2483Thr)
c.7394A>C (p.Lys2465Thr)
c.12671A>C (p.Lys4224Thr)
4g.125481593A>GCA358132561FAT4c.12677A>G (p.Lys4226Arg)
c.7448A>G (p.Lys2483Arg)
c.7394A>G (p.Lys2465Arg)
c.12671A>G (p.Lys4224Arg)
4g.125481593A>TCA358132560FAT4c.12677A>T (p.Lys4226Met)
c.7448A>T (p.Lys2483Met)
c.7394A>T (p.Lys2465Met)
c.12671A>T (p.Lys4224Met)
4g.125481594G>ACA441204537FAT4c.12678G>A (p.Lys4226=)
c.7449G>A (p.Lys2483=)
c.7395G>A (p.Lys2465=)
c.12672G>A (p.Lys4224=)
 ClinVar dbSNP gnomAD v4
4g.125481594G>CCA358132562FAT4c.12678G>C (p.Lys4226Asn)
c.7449G>C (p.Lys2483Asn)
c.7395G>C (p.Lys2465Asn)
c.12672G>C (p.Lys4224Asn)
4g.125481594G>TCA358132563FAT4c.12678G>T (p.Lys4226Asn)
c.7449G>T (p.Lys2483Asn)
c.7395G>T (p.Lys2465Asn)
c.12672G>T (p.Lys4224Asn)
4g.125481595C>ACA441204538FAT4c.12679C>A (p.Arg4227=)
c.7450C>A (p.Arg2484=)
c.7396C>A (p.Arg2466=)
c.12673C>A (p.Arg4225=)
4g.125481595C=CA1491668634FAT4c.12679C= (p.Arg4227=)
c.7450C= (p.Arg2484=)
c.7396C= (p.Arg2466=)
c.12673C= (p.Arg4225=)
4g.125481595C>GCA358132564FAT4c.12679C>G (p.Arg4227Gly)
c.7450C>G (p.Arg2484Gly)
c.7396C>G (p.Arg2466Gly)
c.12673C>G (p.Arg4225Gly)
4g.125481595C>TCA3074167FAT4c.12679C>T (p.Arg4227Trp)
c.7450C>T (p.Arg2484Trp)
c.7396C>T (p.Arg2466Trp)
c.12673C>T (p.Arg4225Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481596G>ACA3074168FAT4c.12680G>A (p.Arg4227Gln)
c.7451G>A (p.Arg2484Gln)
c.7397G>A (p.Arg2466Gln)
c.12674G>A (p.Arg4225Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481596G>CCA358132565FAT4c.12680G>C (p.Arg4227Pro)
c.7451G>C (p.Arg2484Pro)
c.7397G>C (p.Arg2466Pro)
c.12674G>C (p.Arg4225Pro)
4g.125481596G=CA1491668637FAT4c.12680G= (p.Arg4227=)
c.7451G= (p.Arg2484=)
c.7397G= (p.Arg2466=)
c.12674G= (p.Arg4225=)
4g.125481596G>TCA358132566FAT4c.12680G>T (p.Arg4227Leu)
c.7451G>T (p.Arg2484Leu)
c.7397G>T (p.Arg2466Leu)
c.12674G>T (p.Arg4225Leu)
4g.125481597G>ACA441204539FAT4c.12681G>A (p.Arg4227=)
c.7452G>A (p.Arg2484=)
c.7398G>A (p.Arg2466=)
c.12675G>A (p.Arg4225=)
4g.125481597G>CCA441204540FAT4c.12681G>C (p.Arg4227=)
c.7452G>C (p.Arg2484=)
c.7398G>C (p.Arg2466=)
c.12675G>C (p.Arg4225=)
4g.125481597G>TCA441204541FAT4c.12681G>T (p.Arg4227=)
c.7452G>T (p.Arg2484=)
c.7398G>T (p.Arg2466=)
c.12675G>T (p.Arg4225=)
 gnomAD v4 COSMIC COSMIC COSMIC
4g.125481598G>ACA358132567FAT4c.12682G>A (p.Glu4228Lys)
c.7453G>A (p.Glu2485Lys)
c.7399G>A (p.Glu2467Lys)
c.12676G>A (p.Glu4226Lys)
4g.125481598G>CCA358132568FAT4c.12682G>C (p.Glu4228Gln)
c.7453G>C (p.Glu2485Gln)
c.7399G>C (p.Glu2467Gln)
c.12676G>C (p.Glu4226Gln)
4g.125481598G>TCA358132569FAT4c.12682G>T (p.Glu4228Ter)
c.7453G>T (p.Glu2485Ter)
c.7399G>T (p.Glu2467Ter)
c.12676G>T (p.Glu4226Ter)
4g.125481599A>CCA358132570FAT4c.12683A>C (p.Glu4228Ala)
c.7454A>C (p.Glu2485Ala)
c.7400A>C (p.Glu2467Ala)
c.12677A>C (p.Glu4226Ala)
4g.125481599A>GCA358132571FAT4c.12683A>G (p.Glu4228Gly)
c.7454A>G (p.Glu2485Gly)
c.7400A>G (p.Glu2467Gly)
c.12677A>G (p.Glu4226Gly)
4g.125481599A>TCA358132572FAT4c.12683A>T (p.Glu4228Val)
c.7454A>T (p.Glu2485Val)
c.7400A>T (p.Glu2467Val)
c.12677A>T (p.Glu4226Val)
4g.125481600A=CA1491668639FAT4c.12684A= (p.Glu4228=)
c.7455A= (p.Glu2485=)
c.7401A= (p.Glu2467=)
c.12678A= (p.Glu4226=)
4g.125481600A>CCA358132573FAT4c.12684A>C (p.Glu4228Asp)
c.7455A>C (p.Glu2485Asp)
c.7401A>C (p.Glu2467Asp)
c.12678A>C (p.Glu4226Asp)
4g.125481600A>GCA441204542FAT4c.12684A>G (p.Glu4228=)
c.7455A>G (p.Glu2485=)
c.7401A>G (p.Glu2467=)
c.12678A>G (p.Glu4226=)
4g.125481600A>TCA358132574FAT4c.12684A>T (p.Glu4228Asp)
c.7455A>T (p.Glu2485Asp)
c.7401A>T (p.Glu2467Asp)
c.12678A>T (p.Glu4226Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.125481602_125481603dupCA2580616772FAT4c.12686_12687dup (p.Leu4230IlefsTer3)
c.7457_7458dup (p.Leu2487IlefsTer3)
c.7403_7404dup (p.Leu2469IlefsTer3)
c.12680_12681dup (p.Leu4228IlefsTer3)
 ClinVar
4g.125481601T>ACA358132577FAT4c.12685T>A (p.Tyr4229Asn)
c.7456T>A (p.Tyr2486Asn)
c.7402T>A (p.Tyr2468Asn)
c.12679T>A (p.Tyr4227Asn)
4g.125481601T>CCA358132576FAT4c.12685T>C (p.Tyr4229His)
c.7456T>C (p.Tyr2486His)
c.7402T>C (p.Tyr2468His)
c.12679T>C (p.Tyr4227His)
4g.125481601T>GCA358132575FAT4c.12685T>G (p.Tyr4229Asp)
c.7456T>G (p.Tyr2486Asp)
c.7402T>G (p.Tyr2468Asp)
c.12679T>G (p.Tyr4227Asp)
4g.125481602A>CCA358132578FAT4c.12686A>C (p.Tyr4229Ser)
c.7457A>C (p.Tyr2486Ser)
c.7403A>C (p.Tyr2468Ser)
c.12680A>C (p.Tyr4227Ser)
4g.125481602A>GCA358132579FAT4c.12686A>G (p.Tyr4229Cys)
c.7457A>G (p.Tyr2486Cys)
c.7403A>G (p.Tyr2468Cys)
c.12680A>G (p.Tyr4227Cys)
 gnomAD v4
4g.125481602A>TCA358132580FAT4c.12686A>T (p.Tyr4229Phe)
c.7457A>T (p.Tyr2486Phe)
c.7403A>T (p.Tyr2468Phe)
c.12680A>T (p.Tyr4227Phe)
4g.125481602dupCA441204543FAT4c.12686dup (p.Tyr4229Ter)
c.7457dup (p.Tyr2486Ter)
c.7403dup (p.Tyr2468Ter)
c.12680dup (p.Tyr4227Ter)
 COSMIC COSMIC
4g.125481603T>ACA358132581FAT4c.12687T>A (p.Tyr4229Ter)
c.7458T>A (p.Tyr2486Ter)
c.7404T>A (p.Tyr2468Ter)
c.12681T>A (p.Tyr4227Ter)
4g.125481603T>CCA104870399FAT4c.12687T>C (p.Tyr4229=)
c.7458T>C (p.Tyr2486=)
c.7404T>C (p.Tyr2468=)
c.12681T>C (p.Tyr4227=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125481603T>GCA358132582FAT4c.12687T>G (p.Tyr4229Ter)
c.7458T>G (p.Tyr2486Ter)
c.7404T>G (p.Tyr2468Ter)
c.12681T>G (p.Tyr4227Ter)
4g.125481603T=CA1491668643FAT4c.12687T= (p.Tyr4229=)
c.7458T= (p.Tyr2486=)
c.7404T= (p.Tyr2468=)
c.12681T= (p.Tyr4227=)
4g.125481604T>ACA358132583FAT4c.12688T>A (p.Leu4230Met)
c.7459T>A (p.Leu2487Met)
c.7405T>A (p.Leu2469Met)
c.12682T>A (p.Leu4228Met)
4g.125481604T>CCA441204544FAT4c.12688T>C (p.Leu4230=)
c.7459T>C (p.Leu2487=)
c.7405T>C (p.Leu2469=)
c.12682T>C (p.Leu4228=)
4g.125481604T>GCA358132584FAT4c.12688T>G (p.Leu4230Val)
c.7459T>G (p.Leu2487Val)
c.7405T>G (p.Leu2469Val)
c.12682T>G (p.Leu4228Val)
4g.125481606_125481608delCA2672012584FAT4c.12690_12692del (p.Leu4231del)
c.7461_7463del (p.Leu2488del)
c.7407_7409del (p.Leu2470del)
c.12684_12686del (p.Leu4229del)
 gnomAD v4
4g.125481605T>ACA358132585FAT4c.12689T>A (p.Leu4230Ter)
c.7460T>A (p.Leu2487Ter)
c.7406T>A (p.Leu2469Ter)
c.12683T>A (p.Leu4228Ter)
4g.125481605T>CCA358132586FAT4c.12689T>C (p.Leu4230Ser)
c.7460T>C (p.Leu2487Ser)
c.7406T>C (p.Leu2469Ser)
c.12683T>C (p.Leu4228Ser)
 COSMIC COSMIC
4g.125481605T>GCA358132587FAT4c.12689T>G (p.Leu4230Trp)
c.7460T>G (p.Leu2487Trp)
c.7406T>G (p.Leu2469Trp)
c.12683T>G (p.Leu4228Trp)
4g.125481606G>ACA441204545FAT4c.12690G>A (p.Leu4230=)
c.7461G>A (p.Leu2487=)
c.7407G>A (p.Leu2469=)
c.12684G>A (p.Leu4228=)
 dbSNP
4g.125481606G>CCA358132588FAT4c.12690G>C (p.Leu4230Phe)
c.7461G>C (p.Leu2487Phe)
c.7407G>C (p.Leu2469Phe)
c.12684G>C (p.Leu4228Phe)
4g.125481606G=CA1491668645FAT4c.12690G= (p.Leu4230=)
c.7461G= (p.Leu2487=)
c.7407G= (p.Leu2469=)
c.12684G= (p.Leu4228=)
4g.125481606G>TCA358132589FAT4c.12690G>T (p.Leu4230Phe)
c.7461G>T (p.Leu2487Phe)
c.7407G>T (p.Leu2469Phe)
c.12684G>T (p.Leu4228Phe)
4g.125481607_125481612delCA2578191268FAT4c.12691_12696del (p.Leu4231_Arg4232del)
c.7462_7467del (p.Leu2488_Arg2489del)
c.7408_7413del (p.Leu2470_Arg2471del)
c.12685_12690del (p.Leu4229_Arg4230del)
4g.125481607T>ACA358132590FAT4c.12691T>A (p.Leu4231Ile)
c.7462T>A (p.Leu2488Ile)
c.7408T>A (p.Leu2470Ile)
c.12685T>A (p.Leu4229Ile)
4g.125481607T>CCA441204546FAT4c.12691T>C (p.Leu4231=)
c.7462T>C (p.Leu2488=)
c.7408T>C (p.Leu2470=)
c.12685T>C (p.Leu4229=)
 dbSNP gnomAD v3 gnomAD v4
4g.125481607T>GCA358132591FAT4c.12691T>G (p.Leu4231Val)
c.7462T>G (p.Leu2488Val)
c.7408T>G (p.Leu2470Val)
c.12685T>G (p.Leu4229Val)
4g.125481607T=CA1491668647FAT4c.12691T= (p.Leu4231=)
c.7462T= (p.Leu2488=)
c.7408T= (p.Leu2470=)
c.12685T= (p.Leu4229=)
4g.125481608T>ACA358132592FAT4c.12692T>A (p.Leu4231Ter)
c.7463T>A (p.Leu2488Ter)
c.7409T>A (p.Leu2470Ter)
c.12686T>A (p.Leu4229Ter)
4g.125481608T>CCA358132593FAT4c.12692T>C (p.Leu4231Ser)
c.7463T>C (p.Leu2488Ser)
c.7409T>C (p.Leu2470Ser)
c.12686T>C (p.Leu4229Ser)
4g.125481608T>GCA358132594FAT4c.12692T>G (p.Leu4231Ter)
c.7463T>G (p.Leu2488Ter)
c.7409T>G (p.Leu2470Ter)
c.12686T>G (p.Leu4229Ter)
4g.125481609A=CA1491668649FAT4c.12693A= (p.Leu4231=)
c.7464A= (p.Leu2488=)
c.7410A= (p.Leu2470=)
c.12687A= (p.Leu4229=)
4g.125481609A>CCA358132595FAT4c.12693A>C (p.Leu4231Phe)
c.7464A>C (p.Leu2488Phe)
c.7410A>C (p.Leu2470Phe)
c.12687A>C (p.Leu4229Phe)
4g.125481609A>GCA441204547FAT4c.12693A>G (p.Leu4231=)
c.7464A>G (p.Leu2488=)
c.7410A>G (p.Leu2470=)
c.12687A>G (p.Leu4229=)
 dbSNP
4g.125481609A>TCA358132596FAT4c.12693A>T (p.Leu4231Phe)
c.7464A>T (p.Leu2488Phe)
c.7410A>T (p.Leu2470Phe)
c.12687A>T (p.Leu4229Phe)
4g.125481610A>CCA441204548FAT4c.12694A>C (p.Arg4232=)
c.7465A>C (p.Arg2489=)
c.7411A>C (p.Arg2471=)
c.12688A>C (p.Arg4230=)
4g.125481610A>GCA358132597FAT4c.12694A>G (p.Arg4232Gly)
c.7465A>G (p.Arg2489Gly)
c.7411A>G (p.Arg2471Gly)
c.12688A>G (p.Arg4230Gly)
4g.125481610A>TCA358132598FAT4c.12694A>T (p.Arg4232Trp)
c.7465A>T (p.Arg2489Trp)
c.7411A>T (p.Arg2471Trp)
c.12688A>T (p.Arg4230Trp)
4g.125481611G>ACA358132599FAT4c.12695G>A (p.Arg4232Lys)
c.7466G>A (p.Arg2489Lys)
c.7412G>A (p.Arg2471Lys)
c.12689G>A (p.Arg4230Lys)
4g.125481611G>CCA358132600FAT4c.12695G>C (p.Arg4232Thr)
c.7466G>C (p.Arg2489Thr)
c.7412G>C (p.Arg2471Thr)
c.12689G>C (p.Arg4230Thr)
4g.125481611G>TCA358132601FAT4c.12695G>T (p.Arg4232Met)
c.7466G>T (p.Arg2489Met)
c.7412G>T (p.Arg2471Met)
c.12689G>T (p.Arg4230Met)
4g.125481612G>ACA104870412FAT4c.12696G>A (p.Arg4232=)
c.7467G>A (p.Arg2489=)
c.7413G>A (p.Arg2471=)
c.12690G>A (p.Arg4230=)
 dbSNP
4g.125481612G>CCA358132602FAT4c.12696G>C (p.Arg4232Ser)
c.7467G>C (p.Arg2489Ser)
c.7413G>C (p.Arg2471Ser)
c.12690G>C (p.Arg4230Ser)
4g.125481612G=CA1491668652FAT4c.12696G= (p.Arg4232=)
c.7467G= (p.Arg2489=)
c.7413G= (p.Arg2471=)
c.12690G= (p.Arg4230=)
4g.125481612G>TCA358132603FAT4c.12696G>T (p.Arg4232Ser)
c.7467G>T (p.Arg2489Ser)
c.7413G>T (p.Arg2471Ser)
c.12690G>T (p.Arg4230Ser)
4g.125481613C>ACA358132606FAT4c.12697C>A (p.Gln4233Lys)
c.7468C>A (p.Gln2490Lys)
c.7414C>A (p.Gln2472Lys)
c.12691C>A (p.Gln4231Lys)
4g.125481613C>GCA358132605FAT4c.12697C>G (p.Gln4233Glu)
c.7468C>G (p.Gln2490Glu)
c.7414C>G (p.Gln2472Glu)
c.12691C>G (p.Gln4231Glu)
4g.125481613C>TCA358132604FAT4c.12697C>T (p.Gln4233Ter)
c.7468C>T (p.Gln2490Ter)
c.7414C>T (p.Gln2472Ter)
c.12691C>T (p.Gln4231Ter)
4g.125481614A>CCA358132607FAT4c.12698A>C (p.Gln4233Pro)
c.7469A>C (p.Gln2490Pro)
c.7415A>C (p.Gln2472Pro)
c.12692A>C (p.Gln4231Pro)
4g.125481614A>GCA358132608FAT4c.12698A>G (p.Gln4233Arg)
c.7469A>G (p.Gln2490Arg)
c.7415A>G (p.Gln2472Arg)
c.12692A>G (p.Gln4231Arg)
 ClinVar gnomAD v4
4g.125481614A>TCA358132609FAT4c.12698A>T (p.Gln4233Leu)
c.7469A>T (p.Gln2490Leu)
c.7415A>T (p.Gln2472Leu)
c.12692A>T (p.Gln4231Leu)
4g.125481615A=CA1491668656FAT4c.12699A= (p.Gln4233=)
c.7470A= (p.Gln2490=)
c.7416A= (p.Gln2472=)
c.12693A= (p.Gln4231=)
4g.125481615A>CCA358132610FAT4c.12699A>C (p.Gln4233His)
c.7470A>C (p.Gln2490His)
c.7416A>C (p.Gln2472His)
c.12693A>C (p.Gln4231His)
 dbSNP gnomAD v4
4g.125481615A>GCA441204549FAT4c.12699A>G (p.Gln4233=)
c.7470A>G (p.Gln2490=)
c.7416A>G (p.Gln2472=)
c.12693A>G (p.Gln4231=)
 gnomAD v4
4g.125481615A>TCA358132611FAT4c.12699A>T (p.Gln4233His)
c.7470A>T (p.Gln2490His)
c.7416A>T (p.Gln2472His)
c.12693A>T (p.Gln4231His)
4g.125481616A>CCA358132612FAT4c.12700A>C (p.Ser4234Arg)
c.7471A>C (p.Ser2491Arg)
c.7417A>C (p.Ser2473Arg)
c.12694A>C (p.Ser4232Arg)
4g.125481616A>GCA358132613FAT4c.12700A>G (p.Ser4234Gly)
c.7471A>G (p.Ser2491Gly)
c.7417A>G (p.Ser2473Gly)
c.12694A>G (p.Ser4232Gly)
4g.125481616A>TCA358132614FAT4c.12700A>T (p.Ser4234Cys)
c.7471A>T (p.Ser2491Cys)
c.7417A>T (p.Ser2473Cys)
c.12694A>T (p.Ser4232Cys)
4g.125481617G>ACA358132615FAT4c.12701G>A (p.Ser4234Asn)
c.7472G>A (p.Ser2491Asn)
c.7418G>A (p.Ser2473Asn)
c.12695G>A (p.Ser4232Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481617G>CCA358132616FAT4c.12701G>C (p.Ser4234Thr)
c.7472G>C (p.Ser2491Thr)
c.7418G>C (p.Ser2473Thr)
c.12695G>C (p.Ser4232Thr)
4g.125481617G=CA1491668660FAT4c.12701G= (p.Ser4234=)
c.7472G= (p.Ser2491=)
c.7418G= (p.Ser2473=)
c.12695G= (p.Ser4232=)
4g.125481617G>TCA358132617FAT4c.12701G>T (p.Ser4234Ile)
c.7472G>T (p.Ser2491Ile)
c.7418G>T (p.Ser2473Ile)
c.12695G>T (p.Ser4232Ile)
4g.125481617_125481618delinsGCCA1491668658FAT4c.12701_12702delinsGC (p.Ser4234=)
c.7472_7473delinsGC (p.Ser2491=)
c.7418_7419delinsGC (p.Ser2473=)
c.12695_12696delinsGC (p.Ser4232=)
4g.125481618delCA786671099FAT4c.12702del (p.Leu4235TyrfsTer11)
c.7473del (p.Leu2492TyrfsTer11)
c.7419del (p.Leu2474TyrfsTer11)
c.12696del (p.Leu4233TyrfsTer11)
 dbSNP
4g.125481618C>ACA358132618FAT4c.12702C>A (p.Ser4234Arg)
c.7473C>A (p.Ser2491Arg)
c.7419C>A (p.Ser2473Arg)
c.12696C>A (p.Ser4232Arg)
4g.125481618C=CA1491668665FAT4c.12702C= (p.Ser4234=)
c.7473C= (p.Ser2491=)
c.7419C= (p.Ser2473=)
c.12696C= (p.Ser4232=)
4g.125481618C>GCA358132619FAT4c.12702C>G (p.Ser4234Arg)
c.7473C>G (p.Ser2491Arg)
c.7419C>G (p.Ser2473Arg)
c.12696C>G (p.Ser4232Arg)
4g.125481618C>TCA104870425FAT4c.12702C>T (p.Ser4234=)
c.7473C>T (p.Ser2491=)
c.7419C>T (p.Ser2473=)
c.12696C>T (p.Ser4232=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125481619T>ACA358132621FAT4c.12703T>A (p.Leu4235Ile)
c.7474T>A (p.Leu2492Ile)
c.7420T>A (p.Leu2474Ile)
c.12697T>A (p.Leu4233Ile)
4g.125481619T>CCA441204550FAT4c.12703T>C (p.Leu4235=)
c.7474T>C (p.Leu2492=)
c.7420T>C (p.Leu2474=)
c.12697T>C (p.Leu4233=)
4g.125481619T>GCA358132620FAT4c.12703T>G (p.Leu4235Val)
c.7474T>G (p.Leu2492Val)
c.7420T>G (p.Leu2474Val)
c.12697T>G (p.Leu4233Val)
4g.125481620T>ACA358132622FAT4c.12704T>A (p.Leu4235Ter)
c.7475T>A (p.Leu2492Ter)
c.7421T>A (p.Leu2474Ter)
c.12698T>A (p.Leu4233Ter)
4g.125481620T>CCA358132624FAT4c.12704T>C (p.Leu4235Ser)
c.7475T>C (p.Leu2492Ser)
c.7421T>C (p.Leu2474Ser)
c.12698T>C (p.Leu4233Ser)
4g.125481620T>GCA358132623FAT4c.12704T>G (p.Leu4235Ter)
c.7475T>G (p.Leu2492Ter)
c.7421T>G (p.Leu2474Ter)
c.12698T>G (p.Leu4233Ter)
4g.125481621A>CCA358132625FAT4c.12705A>C (p.Leu4235Phe)
c.7476A>C (p.Leu2492Phe)
c.7422A>C (p.Leu2474Phe)
c.12699A>C (p.Leu4233Phe)
4g.125481621A>GCA441204551FAT4c.12705A>G (p.Leu4235=)
c.7476A>G (p.Leu2492=)
c.7422A>G (p.Leu2474=)
c.12699A>G (p.Leu4233=)
 ClinVar
4g.125481621A>TCA358132626FAT4c.12705A>T (p.Leu4235Phe)
c.7476A>T (p.Leu2492Phe)
c.7422A>T (p.Leu2474Phe)
c.12699A>T (p.Leu4233Phe)
4g.125481622C>ACA441204552FAT4c.12706C>A (p.Arg4236=)
c.7477C>A (p.Arg2493=)
c.7423C>A (p.Arg2475=)
c.12700C>A (p.Arg4234=)
4g.125481622C=CA1491668671FAT4c.12706C= (p.Arg4236=)
c.7477C= (p.Arg2493=)
c.7423C= (p.Arg2475=)
c.12700C= (p.Arg4234=)
4g.125481622C>GCA358132627FAT4c.12706C>G (p.Arg4236Gly)
c.7477C>G (p.Arg2493Gly)
c.7423C>G (p.Arg2475Gly)
c.12700C>G (p.Arg4234Gly)
4g.125481622C>TCA104870435FAT4c.12706C>T (p.Arg4236Ter)
c.7477C>T (p.Arg2493Ter)
c.7423C>T (p.Arg2475Ter)
c.12700C>T (p.Arg4234Ter)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125481623G>ACA358132628FAT4c.12707G>A (p.Arg4236Gln)
c.7478G>A (p.Arg2493Gln)
c.7424G>A (p.Arg2475Gln)
c.12701G>A (p.Arg4234Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125481623G>CCA358132629FAT4c.12707G>C (p.Arg4236Pro)
c.7478G>C (p.Arg2493Pro)
c.7424G>C (p.Arg2475Pro)
c.12701G>C (p.Arg4234Pro)
 dbSNP
4g.125481623G=CA1491668677FAT4c.12707G= (p.Arg4236=)
c.7478G= (p.Arg2493=)
c.7424G= (p.Arg2475=)
c.12701G= (p.Arg4234=)
4g.125481623G>TCA358132630FAT4c.12707G>T (p.Arg4236Leu)
c.7478G>T (p.Arg2493Leu)
c.7424G>T (p.Arg2475Leu)
c.12701G>T (p.Arg4234Leu)
4g.125481624A>CCA441204553FAT4c.12708A>C (p.Arg4236=)
c.7479A>C (p.Arg2493=)
c.7425A>C (p.Arg2475=)
c.12702A>C (p.Arg4234=)
4g.125481624A>GCA441204555FAT4c.12708A>G (p.Arg4236=)
c.7479A>G (p.Arg2493=)
c.7425A>G (p.Arg2475=)
c.12702A>G (p.Arg4234=)
 gnomAD v4
4g.125481624A>TCA441204554FAT4c.12708A>T (p.Arg4236=)
c.7479A>T (p.Arg2493=)
c.7425A>T (p.Arg2475=)
c.12702A>T (p.Arg4234=)
4g.125481625G>ACA358132631FAT4c.12709G>A (p.Gly4237Ser)
c.7480G>A (p.Gly2494Ser)
c.7426G>A (p.Gly2476Ser)
c.12703G>A (p.Gly4235Ser)
4g.125481625G>CCA358132632FAT4c.12709G>C (p.Gly4237Arg)
c.7480G>C (p.Gly2494Arg)
c.7426G>C (p.Gly2476Arg)
c.12703G>C (p.Gly4235Arg)
4g.125481625G>TCA358132633FAT4c.12709G>T (p.Gly4237Cys)
c.7480G>T (p.Gly2494Cys)
c.7426G>T (p.Gly2476Cys)
c.12703G>T (p.Gly4235Cys)
4g.125481626G>ACA3074169FAT4c.12710G>A (p.Gly4237Asp)
c.7481G>A (p.Gly2494Asp)
c.7427G>A (p.Gly2476Asp)
c.12704G>A (p.Gly4235Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481626G>CCA358132634FAT4c.12710G>C (p.Gly4237Ala)
c.7481G>C (p.Gly2494Ala)
c.7427G>C (p.Gly2476Ala)
c.12704G>C (p.Gly4235Ala)
4g.125481626G=CA1491668682FAT4c.12710G= (p.Gly4237=)
c.7481G= (p.Gly2494=)
c.7427G= (p.Gly2476=)
c.12704G= (p.Gly4235=)
4g.125481626G>TCA358132635FAT4c.12710G>T (p.Gly4237Val)
c.7481G>T (p.Gly2494Val)
c.7427G>T (p.Gly2476Val)
c.12704G>T (p.Gly4235Val)
4g.125481627T>ACA441204558FAT4c.12711T>A (p.Gly4237=)
c.7482T>A (p.Gly2494=)
c.7428T>A (p.Gly2476=)
c.12705T>A (p.Gly4235=)
4g.125481627T>CCA441204557FAT4c.12711T>C (p.Gly4237=)
c.7482T>C (p.Gly2494=)
c.7428T>C (p.Gly2476=)
c.12705T>C (p.Gly4235=)
4g.125481627T>GCA441204556FAT4c.12711T>G (p.Gly4237=)
c.7482T>G (p.Gly2494=)
c.7428T>G (p.Gly2476=)
c.12705T>G (p.Gly4235=)
4g.125481628G>ACA358132638FAT4c.12712G>A (p.Ala4238Thr)
c.7483G>A (p.Ala2495Thr)
c.7429G>A (p.Ala2477Thr)
c.12706G>A (p.Ala4236Thr)
4g.125481628G>CCA358132636FAT4c.12712G>C (p.Ala4238Pro)
c.7483G>C (p.Ala2495Pro)
c.7429G>C (p.Ala2477Pro)
c.12706G>C (p.Ala4236Pro)
 gnomAD v4
4g.125481628G>TCA358132637FAT4c.12712G>T (p.Ala4238Ser)
c.7483G>T (p.Ala2495Ser)
c.7429G>T (p.Ala2477Ser)
c.12706G>T (p.Ala4236Ser)
4g.125481629C>ACA358132639FAT4c.12713C>A (p.Ala4238Asp)
c.7484C>A (p.Ala2495Asp)
c.7430C>A (p.Ala2477Asp)
c.12707C>A (p.Ala4236Asp)
4g.125481629C=CA1491668687FAT4c.12713C= (p.Ala4238=)
c.7484C= (p.Ala2495=)
c.7430C= (p.Ala2477=)
c.12707C= (p.Ala4236=)
4g.125481629C>GCA358132640FAT4c.12713C>G (p.Ala4238Gly)
c.7484C>G (p.Ala2495Gly)
c.7430C>G (p.Ala2477Gly)
c.12707C>G (p.Ala4236Gly)
4g.125481629C>TCA3074170FAT4c.12713C>T (p.Ala4238Val)
c.7484C>T (p.Ala2495Val)
c.7430C>T (p.Ala2477Val)
c.12707C>T (p.Ala4236Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481630C>ACA441204559FAT4c.12714C>A (p.Ala4238=)
c.7485C>A (p.Ala2495=)
c.7431C>A (p.Ala2477=)
c.12708C>A (p.Ala4236=)
4g.125481630C>GCA441204561FAT4c.12714C>G (p.Ala4238=)
c.7485C>G (p.Ala2495=)
c.7431C>G (p.Ala2477=)
c.12708C>G (p.Ala4236=)
4g.125481630C>TCA441204560FAT4c.12714C>T (p.Ala4238=)
c.7485C>T (p.Ala2495=)
c.7431C>T (p.Ala2477=)
c.12708C>T (p.Ala4236=)
 COSMIC COSMIC
4g.125481631A=CA1491668695FAT4c.12715A= (p.Met4239=)
c.7486A= (p.Met2496=)
c.7432A= (p.Met2478=)
c.12709A= (p.Met4237=)
4g.125481631A>CCA358132641FAT4c.12715A>C (p.Met4239Leu)
c.7486A>C (p.Met2496Leu)
c.7432A>C (p.Met2478Leu)
c.12709A>C (p.Met4237Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.125481631A>GCA358132642FAT4c.12715A>G (p.Met4239Val)
c.7486A>G (p.Met2496Val)
c.7432A>G (p.Met2478Val)
c.12709A>G (p.Met4237Val)
4g.125481631A>TCA358132643FAT4c.12715A>T (p.Met4239Leu)
c.7486A>T (p.Met2496Leu)
c.7432A>T (p.Met2478Leu)
c.12709A>T (p.Met4237Leu)
4g.125481632T>ACA358132644FAT4c.12716T>A (p.Met4239Lys)
c.7487T>A (p.Met2496Lys)
c.7433T>A (p.Met2478Lys)
c.12710T>A (p.Met4237Lys)
4g.125481632T>CCA3074171FAT4c.12716T>C (p.Met4239Thr)
c.7487T>C (p.Met2496Thr)
c.7433T>C (p.Met2478Thr)
c.12710T>C (p.Met4237Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481632T>GCA358132645FAT4c.12716T>G (p.Met4239Arg)
c.7487T>G (p.Met2496Arg)
c.7433T>G (p.Met2478Arg)
c.12710T>G (p.Met4237Arg)
4g.125481632T=CA1491668698FAT4c.12716T= (p.Met4239=)
c.7487T= (p.Met2496=)
c.7433T= (p.Met2478=)
c.12710T= (p.Met4237=)
4g.125481633G>ACA3074172FAT4c.12717G>A (p.Met4239Ile)
c.7488G>A (p.Met2496Ile)
c.7434G>A (p.Met2478Ile)
c.12711G>A (p.Met4237Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481633G>CCA358132646FAT4c.12717G>C (p.Met4239Ile)
c.7488G>C (p.Met2496Ile)
c.7434G>C (p.Met2478Ile)
c.12711G>C (p.Met4237Ile)
4g.125481633G=CA1491668703FAT4c.12717G= (p.Met4239=)
c.7488G= (p.Met2496=)
c.7434G= (p.Met2478=)
c.12711G= (p.Met4237=)
4g.125481633G>TCA104870463FAT4c.12717G>T (p.Met4239Ile)
c.7488G>T (p.Met2496Ile)
c.7434G>T (p.Met2478Ile)
c.12711G>T (p.Met4237Ile)
 dbSNP gnomAD v4
4g.125481634T>ACA358132647FAT4c.12718T>A (p.Leu4240Met)
c.7489T>A (p.Leu2497Met)
c.7435T>A (p.Leu2479Met)
c.12712T>A (p.Leu4238Met)
4g.125481634T>CCA441204562FAT4c.12718T>C (p.Leu4240=)
c.7489T>C (p.Leu2497=)
c.7435T>C (p.Leu2479=)
c.12712T>C (p.Leu4238=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481634T>GCA358132648FAT4c.12718T>G (p.Leu4240Val)
c.7489T>G (p.Leu2497Val)
c.7435T>G (p.Leu2479Val)
c.12712T>G (p.Leu4238Val)
4g.125481634T=CA1491668706FAT4c.12718T= (p.Leu4240=)
c.7489T= (p.Leu2497=)
c.7435T= (p.Leu2479=)
c.12712T= (p.Leu4238=)
4g.125481635T>ACA358132649FAT4c.12719T>A (p.Leu4240Ter)
c.7490T>A (p.Leu2497Ter)
c.7436T>A (p.Leu2479Ter)
c.12713T>A (p.Leu4238Ter)
4g.125481635T>CCA358132650FAT4c.12719T>C (p.Leu4240Ser)
c.7490T>C (p.Leu2497Ser)
c.7436T>C (p.Leu2479Ser)
c.12713T>C (p.Leu4238Ser)
4g.125481635T>GCA358132651FAT4c.12719T>G (p.Leu4240Trp)
c.7490T>G (p.Leu2497Trp)
c.7436T>G (p.Leu2479Trp)
c.12713T>G (p.Leu4238Trp)
4g.125481636G>ACA441204563FAT4c.12720G>A (p.Leu4240=)
c.7491G>A (p.Leu2497=)
c.7437G>A (p.Leu2479=)
c.12714G>A (p.Leu4238=)
4g.125481636G>CCA358132652FAT4c.12720G>C (p.Leu4240Phe)
c.7491G>C (p.Leu2497Phe)
c.7437G>C (p.Leu2479Phe)
c.12714G>C (p.Leu4238Phe)
4g.125481636G>TCA358132653FAT4c.12720G>T (p.Leu4240Phe)
c.7491G>T (p.Leu2497Phe)
c.7437G>T (p.Leu2479Phe)
c.12714G>T (p.Leu4238Phe)
4g.125481637G>ACA358132654FAT4c.12721G>A (p.Glu4241Lys)
c.7492G>A (p.Glu2498Lys)
c.7438G>A (p.Glu2480Lys)
c.12715G>A (p.Glu4239Lys)
4g.125481637G>CCA358132655FAT4c.12721G>C (p.Glu4241Gln)
c.7492G>C (p.Glu2498Gln)
c.7438G>C (p.Glu2480Gln)
c.12715G>C (p.Glu4239Gln)
4g.125481637G>TCA358132656FAT4c.12721G>T (p.Glu4241Ter)
c.7492G>T (p.Glu2498Ter)
c.7438G>T (p.Glu2480Ter)
c.12715G>T (p.Glu4239Ter)
4g.125481638A>CCA358132657FAT4c.12722A>C (p.Glu4241Ala)
c.7493A>C (p.Glu2498Ala)
c.7439A>C (p.Glu2480Ala)
c.12716A>C (p.Glu4239Ala)
4g.125481638A>GCA358132658FAT4c.12722A>G (p.Glu4241Gly)
c.7493A>G (p.Glu2498Gly)
c.7439A>G (p.Glu2480Gly)
c.12716A>G (p.Glu4239Gly)
4g.125481638A>TCA358132659FAT4c.12722A>T (p.Glu4241Val)
c.7493A>T (p.Glu2498Val)
c.7439A>T (p.Glu2480Val)
c.12716A>T (p.Glu4239Val)
4g.125481639G>ACA441204564FAT4c.12723G>A (p.Glu4241=)
c.7494G>A (p.Glu2498=)
c.7440G>A (p.Glu2480=)
c.12717G>A (p.Glu4239=)
4g.125481639G>CCA358132660FAT4c.12723G>C (p.Glu4241Asp)
c.7494G>C (p.Glu2498Asp)
c.7440G>C (p.Glu2480Asp)
c.12717G>C (p.Glu4239Asp)
4g.125481639G>TCA358132661FAT4c.12723G>T (p.Glu4241Asp)
c.7494G>T (p.Glu2498Asp)
c.7440G>T (p.Glu2480Asp)
c.12717G>T (p.Glu4239Asp)
4g.125481640C>ACA358132664FAT4c.12724C>A (p.Pro4242Thr)
c.7495C>A (p.Pro2499Thr)
c.7441C>A (p.Pro2481Thr)
c.12718C>A (p.Pro4240Thr)
4g.125481640C>GCA358132662FAT4c.12724C>G (p.Pro4242Ala)
c.7495C>G (p.Pro2499Ala)
c.7441C>G (p.Pro2481Ala)
c.12718C>G (p.Pro4240Ala)
 gnomAD v4
4g.125481640C>TCA358132663FAT4c.12724C>T (p.Pro4242Ser)
c.7495C>T (p.Pro2499Ser)
c.7441C>T (p.Pro2481Ser)
c.12718C>T (p.Pro4240Ser)
4g.125481641C>ACA358132665FAT4c.12725C>A (p.Pro4242His)
c.7496C>A (p.Pro2499His)
c.7442C>A (p.Pro2481His)
c.12719C>A (p.Pro4240His)
 gnomAD v4
4g.125481641C>GCA358132666FAT4c.12725C>G (p.Pro4242Arg)
c.7496C>G (p.Pro2499Arg)
c.7442C>G (p.Pro2481Arg)
c.12719C>G (p.Pro4240Arg)
4g.125481641C>TCA358132667FAT4c.12725C>T (p.Pro4242Leu)
c.7496C>T (p.Pro2499Leu)
c.7442C>T (p.Pro2481Leu)
c.12719C>T (p.Pro4240Leu)
4g.125481642T>ACA441204565FAT4c.12726T>A (p.Pro4242=)
c.7497T>A (p.Pro2499=)
c.7443T>A (p.Pro2481=)
c.12720T>A (p.Pro4240=)
4g.125481642T>CCA441204566FAT4c.12726T>C (p.Pro4242=)
c.7497T>C (p.Pro2499=)
c.7443T>C (p.Pro2481=)
c.12720T>C (p.Pro4240=)
 ClinVar
4g.125481642T>GCA104870469FAT4c.12726T>G (p.Pro4242=)
c.7497T>G (p.Pro2499=)
c.7443T>G (p.Pro2481=)
c.12720T>G (p.Pro4240=)
 dbSNP gnomAD v3 gnomAD v4
4g.125481642T=CA1491668709FAT4c.12726T= (p.Pro4242=)
c.7497T= (p.Pro2499=)
c.7443T= (p.Pro2481=)
c.12720T= (p.Pro4240=)
4g.125481643T>ACA3074173FAT4c.12727T>A (p.Phe4243Ile)
c.7498T>A (p.Phe2500Ile)
c.7444T>A (p.Phe2482Ile)
c.12721T>A (p.Phe4241Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481643T>CCA358132668FAT4c.12727T>C (p.Phe4243Leu)
c.7498T>C (p.Phe2500Leu)
c.7444T>C (p.Phe2482Leu)
c.12721T>C (p.Phe4241Leu)
4g.125481643T>GCA358132669FAT4c.12727T>G (p.Phe4243Val)
c.7498T>G (p.Phe2500Val)
c.7444T>G (p.Phe2482Val)
c.12721T>G (p.Phe4241Val)
4g.125481643T=CA1491668711FAT4c.12727T= (p.Phe4243=)
c.7498T= (p.Phe2500=)
c.7444T= (p.Phe2482=)
c.12721T= (p.Phe4241=)
4g.125481644T>ACA358132670FAT4c.12728T>A (p.Phe4243Tyr)
c.7499T>A (p.Phe2500Tyr)
c.7445T>A (p.Phe2482Tyr)
c.12722T>A (p.Phe4241Tyr)
4g.125481644T>CCA358132671FAT4c.12728T>C (p.Phe4243Ser)
c.7499T>C (p.Phe2500Ser)
c.7445T>C (p.Phe2482Ser)
c.12722T>C (p.Phe4241Ser)
4g.125481644T>GCA358132672FAT4c.12728T>G (p.Phe4243Cys)
c.7499T>G (p.Phe2500Cys)
c.7445T>G (p.Phe2482Cys)
c.12722T>G (p.Phe4241Cys)
4g.125481645T>ACA358132673FAT4c.12729T>A (p.Phe4243Leu)
c.7500T>A (p.Phe2500Leu)
c.7446T>A (p.Phe2482Leu)
c.12723T>A (p.Phe4241Leu)
4g.125481645T>CCA441204567FAT4c.12729T>C (p.Phe4243=)
c.7500T>C (p.Phe2500=)
c.7446T>C (p.Phe2482=)
c.12723T>C (p.Phe4241=)
4g.125481645T>GCA358132674FAT4c.12729T>G (p.Phe4243Leu)
c.7500T>G (p.Phe2500Leu)
c.7446T>G (p.Phe2482Leu)
c.12723T>G (p.Phe4241Leu)
4g.125481646G>ACA3074174FAT4c.12730G>A (p.Gly4244Ser)
c.7501G>A (p.Gly2501Ser)
c.7447G>A (p.Gly2483Ser)
c.12724G>A (p.Gly4242Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481646G>CCA358132676FAT4c.12730G>C (p.Gly4244Arg)
c.7501G>C (p.Gly2501Arg)
c.7447G>C (p.Gly2483Arg)
c.12724G>C (p.Gly4242Arg)
4g.125481646G=CA1491668714FAT4c.12730G= (p.Gly4244=)
c.7501G= (p.Gly2501=)
c.7447G= (p.Gly2483=)
c.12724G= (p.Gly4242=)
4g.125481646G>TCA358132675FAT4c.12730G>T (p.Gly4244Cys)
c.7501G>T (p.Gly2501Cys)
c.7447G>T (p.Gly2483Cys)
c.12724G>T (p.Gly4242Cys)
 COSMIC COSMIC
4g.125481647G>ACA358132677FAT4c.12731G>A (p.Gly4244Asp)
c.7502G>A (p.Gly2501Asp)
c.7448G>A (p.Gly2483Asp)
c.12725G>A (p.Gly4242Asp)
4g.125481647G>CCA358132679FAT4c.12731G>C (p.Gly4244Ala)
c.7502G>C (p.Gly2501Ala)
c.7448G>C (p.Gly2483Ala)
c.12725G>C (p.Gly4242Ala)
4g.125481647G>TCA358132678FAT4c.12731G>T (p.Gly4244Val)
c.7502G>T (p.Gly2501Val)
c.7448G>T (p.Gly2483Val)
c.12725G>T (p.Gly4242Val)
4g.125481648T>ACA441204568FAT4c.12732T>A (p.Gly4244=)
c.7503T>A (p.Gly2501=)
c.7449T>A (p.Gly2483=)
c.12726T>A (p.Gly4242=)
4g.125481648T>CCA441204569FAT4c.12732T>C (p.Gly4244=)
c.7503T>C (p.Gly2501=)
c.7449T>C (p.Gly2483=)
c.12726T>C (p.Gly4242=)
4g.125481648T>GCA441204570FAT4c.12732T>G (p.Gly4244=)
c.7503T>G (p.Gly2501=)
c.7449T>G (p.Gly2483=)
c.12726T>G (p.Gly4242=)
4g.125481649G>ACA358132680FAT4c.12733G>A (p.Val4245Met)
c.7504G>A (p.Val2502Met)
c.7450G>A (p.Val2484Met)
c.12727G>A (p.Val4243Met)
 gnomAD v4
4g.125481649G>CCA358132682FAT4c.12733G>C (p.Val4245Leu)
c.7504G>C (p.Val2502Leu)
c.7450G>C (p.Val2484Leu)
c.12727G>C (p.Val4243Leu)
4g.125481649G>TCA358132681FAT4c.12733G>T (p.Val4245Leu)
c.7504G>T (p.Val2502Leu)
c.7450G>T (p.Val2484Leu)
c.12727G>T (p.Val4243Leu)
4g.125481650T>ACA358132683FAT4c.12734T>A (p.Val4245Glu)
c.7505T>A (p.Val2502Glu)
c.7451T>A (p.Val2484Glu)
c.12728T>A (p.Val4243Glu)
 COSMIC COSMIC COSMIC
4g.125481650T>CCA358132684FAT4c.12734T>C (p.Val4245Ala)
c.7505T>C (p.Val2502Ala)
c.7451T>C (p.Val2484Ala)
c.12728T>C (p.Val4243Ala)
4g.125481650T>GCA358132685FAT4c.12734T>G (p.Val4245Gly)
c.7505T>G (p.Val2502Gly)
c.7451T>G (p.Val2484Gly)
c.12728T>G (p.Val4243Gly)
4g.125481651G>ACA441204571FAT4c.12735G>A (p.Val4245=)
c.7506G>A (p.Val2502=)
c.7452G>A (p.Val2484=)
c.12729G>A (p.Val4243=)
4g.125481651G>CCA441204573FAT4c.12735G>C (p.Val4245=)
c.7506G>C (p.Val2502=)
c.7452G>C (p.Val2484=)
c.12729G>C (p.Val4243=)
4g.125481651G>TCA441204572FAT4c.12735G>T (p.Val4245=)
c.7506G>T (p.Val2502=)
c.7452G>T (p.Val2484=)
c.12729G>T (p.Val4243=)
4g.125481652A>CCA358132686FAT4c.12736A>C (p.Asn4246His)
c.7507A>C (p.Asn2503His)
c.7453A>C (p.Asn2485His)
c.12730A>C (p.Asn4244His)
4g.125481652A>GCA358132687FAT4c.12736A>G (p.Asn4246Asp)
c.7507A>G (p.Asn2503Asp)
c.7453A>G (p.Asn2485Asp)
c.12730A>G (p.Asn4244Asp)
4g.125481652A>TCA358132688FAT4c.12736A>T (p.Asn4246Tyr)
c.7507A>T (p.Asn2503Tyr)
c.7453A>T (p.Asn2485Tyr)
c.12730A>T (p.Asn4244Tyr)
4g.125481653A=CA1491668719FAT4c.12737A= (p.Asn4246=)
c.7508A= (p.Asn2503=)
c.7454A= (p.Asn2485=)
c.12731A= (p.Asn4244=)
4g.125481653A>CCA358132689FAT4c.12737A>C (p.Asn4246Thr)
c.7508A>C (p.Asn2503Thr)
c.7454A>C (p.Asn2485Thr)
c.12731A>C (p.Asn4244Thr)
 dbSNP
4g.125481653A>GCA358132690FAT4c.12737A>G (p.Asn4246Ser)
c.7508A>G (p.Asn2503Ser)
c.7454A>G (p.Asn2485Ser)
c.12731A>G (p.Asn4244Ser)
4g.125481653A>TCA358132691FAT4c.12737A>T (p.Asn4246Ile)
c.7508A>T (p.Asn2503Ile)
c.7454A>T (p.Asn2485Ile)
c.12731A>T (p.Asn4244Ile)
4g.125481654C>ACA358132692FAT4c.12738C>A (p.Asn4246Lys)
c.7509C>A (p.Asn2503Lys)
c.7455C>A (p.Asn2485Lys)
c.12732C>A (p.Asn4244Lys)
4g.125481654C=CA1491668723FAT4c.12738C= (p.Asn4246=)
c.7509C= (p.Asn2503=)
c.7455C= (p.Asn2485=)
c.12732C= (p.Asn4244=)
4g.125481654C>GCA358132693FAT4c.12738C>G (p.Asn4246Lys)
c.7509C>G (p.Asn2503Lys)
c.7455C>G (p.Asn2485Lys)
c.12732C>G (p.Asn4244Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.125481654C>TCA441204574FAT4c.12738C>T (p.Asn4246=)
c.7509C>T (p.Asn2503=)
c.7455C>T (p.Asn2485=)
c.12732C>T (p.Asn4244=)
 gnomAD v4
4g.125481655A=CA1491668728FAT4c.12739A= (p.Ser4247=)
c.7510A= (p.Ser2504=)
c.7456A= (p.Ser2486=)
c.12733A= (p.Ser4245=)
4g.125481655A>CCA358132696FAT4c.12739A>C (p.Ser4247Arg)
c.7510A>C (p.Ser2504Arg)
c.7456A>C (p.Ser2486Arg)
c.12733A>C (p.Ser4245Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481655A>GCA358132694FAT4c.12739A>G (p.Ser4247Gly)
c.7510A>G (p.Ser2504Gly)
c.7456A>G (p.Ser2486Gly)
c.12733A>G (p.Ser4245Gly)
 dbSNP gnomAD v4
4g.125481655A>TCA358132695FAT4c.12739A>T (p.Ser4247Cys)
c.7510A>T (p.Ser2504Cys)
c.7456A>T (p.Ser2486Cys)
c.12733A>T (p.Ser4245Cys)
4g.125481656G>ACA358132697FAT4c.12740G>A (p.Ser4247Asn)
c.7511G>A (p.Ser2504Asn)
c.7457G>A (p.Ser2486Asn)
c.12734G>A (p.Ser4245Asn)
4g.125481656G>CCA358132698FAT4c.12740G>C (p.Ser4247Thr)
c.7511G>C (p.Ser2504Thr)
c.7457G>C (p.Ser2486Thr)
c.12734G>C (p.Ser4245Thr)
4g.125481656G>TCA358132699FAT4c.12740G>T (p.Ser4247Ile)
c.7511G>T (p.Ser2504Ile)
c.7457G>T (p.Ser2486Ile)
c.12734G>T (p.Ser4245Ile)
4g.125481657T>ACA358132700FAT4c.12741T>A (p.Ser4247Arg)
c.7512T>A (p.Ser2504Arg)
c.7458T>A (p.Ser2486Arg)
c.12735T>A (p.Ser4245Arg)
4g.125481657T>CCA441204575FAT4c.12741T>C (p.Ser4247=)
c.7512T>C (p.Ser2504=)
c.7458T>C (p.Ser2486=)
c.12735T>C (p.Ser4245=)
 gnomAD v4
4g.125481657T>GCA358132701FAT4c.12741T>G (p.Ser4247Arg)
c.7512T>G (p.Ser2504Arg)
c.7458T>G (p.Ser2486Arg)
c.12735T>G (p.Ser4245Arg)
4g.125481658C>ACA358132702FAT4c.12742C>A (p.Leu4248Met)
c.7513C>A (p.Leu2505Met)
c.7459C>A (p.Leu2487Met)
c.12736C>A (p.Leu4246Met)
 ClinVar
4g.125481658C=CA1491668733FAT4c.12742C= (p.Leu4248=)
c.7513C= (p.Leu2505=)
c.7459C= (p.Leu2487=)
c.12736C= (p.Leu4246=)
4g.125481658C>GCA358132703FAT4c.12742C>G (p.Leu4248Val)
c.7513C>G (p.Leu2505Val)
c.7459C>G (p.Leu2487Val)
c.12736C>G (p.Leu4246Val)
 dbSNP gnomAD v4
4g.125481658C>TCA441204576FAT4c.12742C>T (p.Leu4248=)
c.7513C>T (p.Leu2505=)
c.7459C>T (p.Leu2487=)
c.12736C>T (p.Leu4246=)
4g.125481659T>ACA358132704FAT4c.12743T>A (p.Leu4248Gln)
c.7514T>A (p.Leu2505Gln)
c.7460T>A (p.Leu2487Gln)
c.12737T>A (p.Leu4246Gln)
4g.125481659T>CCA358132705FAT4c.12743T>C (p.Leu4248Pro)
c.7514T>C (p.Leu2505Pro)
c.7460T>C (p.Leu2487Pro)
c.12737T>C (p.Leu4246Pro)
4g.125481659T>GCA358132706FAT4c.12743T>G (p.Leu4248Arg)
c.7514T>G (p.Leu2505Arg)
c.7460T>G (p.Leu2487Arg)
c.12737T>G (p.Leu4246Arg)
4g.125481660G>ACA441204579FAT4c.12744G>A (p.Leu4248=)
c.7515G>A (p.Leu2505=)
c.7461G>A (p.Leu2487=)
c.12738G>A (p.Leu4246=)
4g.125481660G>CCA441204577FAT4c.12744G>C (p.Leu4248=)
c.7515G>C (p.Leu2505=)
c.7461G>C (p.Leu2487=)
c.12738G>C (p.Leu4246=)
4g.125481660G>TCA441204578FAT4c.12744G>T (p.Leu4248=)
c.7515G>T (p.Leu2505=)
c.7461G>T (p.Leu2487=)
c.12738G>T (p.Leu4246=)
4g.125481661G>ACA3074175FAT4c.12745G>A (p.Glu4249Lys)
c.7516G>A (p.Glu2506Lys)
c.7462G>A (p.Glu2488Lys)
c.12739G>A (p.Glu4247Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481661G>CCA358132708FAT4c.12745G>C (p.Glu4249Gln)
c.7516G>C (p.Glu2506Gln)
c.7462G>C (p.Glu2488Gln)
c.12739G>C (p.Glu4247Gln)
4g.125481661G=CA1491668737FAT4c.12745G= (p.Glu4249=)
c.7516G= (p.Glu2506=)
c.7462G= (p.Glu2488=)
c.12739G= (p.Glu4247=)
4g.125481661G>TCA358132707FAT4c.12745G>T (p.Glu4249Ter)
c.7516G>T (p.Glu2506Ter)
c.7462G>T (p.Glu2488Ter)
c.12739G>T (p.Glu4247Ter)
4g.125481662A>CCA358132709FAT4c.12746A>C (p.Glu4249Ala)
c.7517A>C (p.Glu2506Ala)
c.7463A>C (p.Glu2488Ala)
c.12740A>C (p.Glu4247Ala)
4g.125481662A>GCA358132710FAT4c.12746A>G (p.Glu4249Gly)
c.7517A>G (p.Glu2506Gly)
c.7463A>G (p.Glu2488Gly)
c.12740A>G (p.Glu4247Gly)
4g.125481662A>TCA358132711FAT4c.12746A>T (p.Glu4249Val)
c.7517A>T (p.Glu2506Val)
c.7463A>T (p.Glu2488Val)
c.12740A>T (p.Glu4247Val)
4g.125481663A>CCA358132712FAT4c.12747A>C (p.Glu4249Asp)
c.7518A>C (p.Glu2506Asp)
c.7464A>C (p.Glu2488Asp)
c.12741A>C (p.Glu4247Asp)
4g.125481663A>GCA441204581FAT4c.12747A>G (p.Glu4249=)
c.7518A>G (p.Glu2506=)
c.7464A>G (p.Glu2488=)
c.12741A>G (p.Glu4247=)
4g.125481663A>TCA358132713FAT4c.12747A>T (p.Glu4249Asp)
c.7518A>T (p.Glu2506Asp)
c.7464A>T (p.Glu2488Asp)
c.12741A>T (p.Glu4247Asp)
4g.125481664G>ACA358132714FAT4c.12748G>A (p.Val4250Ile)
c.7519G>A (p.Val2507Ile)
c.7465G>A (p.Val2489Ile)
c.12742G>A (p.Val4248Ile)
4g.125481664G>CCA358132715FAT4c.12748G>C (p.Val4250Leu)
c.7519G>C (p.Val2507Leu)
c.7465G>C (p.Val2489Leu)
c.12742G>C (p.Val4248Leu)
4g.125481664G>TCA358132716FAT4c.12748G>T (p.Val4250Leu)
c.7519G>T (p.Val2507Leu)
c.7465G>T (p.Val2489Leu)
c.12742G>T (p.Val4248Leu)
4g.125481665T>ACA358132717FAT4c.12749T>A (p.Val4250Glu)
c.7520T>A (p.Val2507Glu)
c.7466T>A (p.Val2489Glu)
c.12743T>A (p.Val4248Glu)
4g.125481665T>CCA358132718FAT4c.12749T>C (p.Val4250Ala)
c.7520T>C (p.Val2507Ala)
c.7466T>C (p.Val2489Ala)
c.12743T>C (p.Val4248Ala)
 dbSNP
4g.125481665T>GCA358132719FAT4c.12749T>G (p.Val4250Gly)
c.7520T>G (p.Val2507Gly)
c.7466T>G (p.Val2489Gly)
c.12743T>G (p.Val4248Gly)
4g.125481665T=CA1491668739FAT4c.12749T= (p.Val4250=)
c.7520T= (p.Val2507=)
c.7466T= (p.Val2489=)
c.12743T= (p.Val4248=)

Number of alleles fetched