Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31817195_31817204delinsTCGATGCCAACA1619307604HSPA1A,HSPA1Lc.1439_1448delinsTCGATGCCAA (p.Ile480=)
c.944_953delinsTCGATGCCAA (p.Ile315=)
c.-14+3809_-14+3818delinsTTGGCATCGA (n.-14+3809_-14+3818delinsTTGGCATCGA)
6g.31817198_31817206delCA1619307605HSPA1A,HSPA1Lc.1442_1450del (p.Asp481_Asn483del)
c.947_955del (p.Asp316_Asn318del)
c.-14+3809_-14+3817del (n.-14+3809_-14+3817del)
 dbSNP
6g.31817201C>ACA363418571HSPA1A,HSPA1Lc.1445C>A (p.Ala482Asp)
c.950C>A (p.Ala317Asp)
c.-14+3812G>T (n.-14+3812G>T)
6g.31817201C>GCA363418578HSPA1A,HSPA1Lc.1445C>G (p.Ala482Gly)
c.950C>G (p.Ala317Gly)
c.-14+3812G>C (n.-14+3812G>C)
6g.31817201C>TCA363418584HSPA1A,HSPA1Lc.1445C>T (p.Ala482Val)
c.950C>T (p.Ala317Val)
c.-14+3812G>A (n.-14+3812G>A)
6g.31817202C>ACA449806549HSPA1A,HSPA1Lc.1446C>A (p.Ala482=)
c.951C>A (p.Ala317=)
c.-14+3811G>T (n.-14+3811G>T)
 gnomAD v4
6g.31817202C>GCA449806550HSPA1A,HSPA1Lc.1446C>G (p.Ala482=)
c.951C>G (p.Ala317=)
c.-14+3811G>C (n.-14+3811G>C)
6g.31817202C>TCA449806552HSPA1A,HSPA1Lc.1446C>T (p.Ala482=)
c.951C>T (p.Ala317=)
c.-14+3811G>A (n.-14+3811G>A)
6g.31817203A>CCA363418591HSPA1A,HSPA1Lc.1447A>C (p.Asn483His)
c.952A>C (p.Asn318His)
c.-14+3810T>G (n.-14+3810T>G)
6g.31817203A>GCA363418611HSPA1A,HSPA1Lc.1447A>G (p.Asn483Asp)
c.952A>G (p.Asn318Asp)
c.-14+3810T>C (n.-14+3810T>C)
6g.31817203A>TCA363418612HSPA1A,HSPA1Lc.1447A>T (p.Asn483Tyr)
c.952A>T (p.Asn318Tyr)
c.-14+3810T>A (n.-14+3810T>A)
6g.31817204A>CCA363418619HSPA1A,HSPA1Lc.1448A>C (p.Asn483Thr)
c.953A>C (p.Asn318Thr)
c.-14+3809T>G (n.-14+3809T>G)
6g.31817204A>GCA363418626HSPA1A,HSPA1Lc.1448A>G (p.Asn483Ser)
c.953A>G (p.Asn318Ser)
c.-14+3809T>C (n.-14+3809T>C)
 gnomAD v4
6g.31817204A>TCA363418630HSPA1A,HSPA1Lc.1448A>T (p.Asn483Ile)
c.953A>T (p.Asn318Ile)
c.-14+3809T>A (n.-14+3809T>A)
6g.31817205C>ACA363418656HSPA1A,HSPA1Lc.1449C>A (p.Asn483Lys)
c.954C>A (p.Asn318Lys)
c.-14+3808G>T (n.-14+3808G>T)
 gnomAD v4
6g.31817205C=CA1619307608HSPA1A,HSPA1Lc.1449C= (p.Asn483=)
c.954C= (p.Asn318=)
c.-14+3808G= (n.-14+3808G=)
6g.31817205C>GCA363418646HSPA1A,HSPA1Lc.1449C>G (p.Asn483Lys)
c.954C>G (p.Asn318Lys)
c.-14+3808G>C (n.-14+3808G>C)
6g.31817205C>TCA449806556HSPA1A,HSPA1Lc.1449C>T (p.Asn483=)
c.954C>T (p.Asn318=)
c.-14+3808G>A (n.-14+3808G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.31817206G>ACA363418675HSPA1A,HSPA1Lc.1450G>A (p.Gly484Ser)
c.955G>A (p.Gly319Ser)
c.-14+3807C>T (n.-14+3807C>T)
 COSMIC
6g.31817206G>CCA363418679HSPA1A,HSPA1Lc.1450G>C (p.Gly484Arg)
c.955G>C (p.Gly319Arg)
c.-14+3807C>G (n.-14+3807C>G)
6g.31817206G>TCA363418681HSPA1A,HSPA1Lc.1450G>T (p.Gly484Cys)
c.955G>T (p.Gly319Cys)
c.-14+3807C>A (n.-14+3807C>A)
 gnomAD v4
6g.31817207G>ACA363418684HSPA1A,HSPA1Lc.1451G>A (p.Gly484Asp)
c.956G>A (p.Gly319Asp)
c.-14+3806C>T (n.-14+3806C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.31817207G>CCA363418690HSPA1A,HSPA1Lc.1451G>C (p.Gly484Ala)
c.956G>C (p.Gly319Ala)
c.-14+3806C>G (n.-14+3806C>G)
6g.31817207G=CA1619307609HSPA1A,HSPA1Lc.1451G= (p.Gly484=)
c.956G= (p.Gly319=)
c.-14+3806C= (n.-14+3806C=)
6g.31817207G>TCA363418695HSPA1A,HSPA1Lc.1451G>T (p.Gly484Val)
c.956G>T (p.Gly319Val)
c.-14+3806C>A (n.-14+3806C>A)
6g.31817208C>ACA449806562HSPA1A,HSPA1Lc.1452C>A (p.Gly484=)
c.957C>A (p.Gly319=)
c.-14+3805G>T (n.-14+3805G>T)
 gnomAD v4
6g.31817208C=CA1619307610HSPA1A,HSPA1Lc.1452C= (p.Gly484=)
c.957C= (p.Gly319=)
c.-14+3805G= (n.-14+3805G=)
6g.31817208C>GCA449806560HSPA1A,HSPA1Lc.1452C>G (p.Gly484=)
c.957C>G (p.Gly319=)
c.-14+3805G>C (n.-14+3805G>C)
6g.31817208C>TCA449806561HSPA1A,HSPA1Lc.1452C>T (p.Gly484=)
c.957C>T (p.Gly319=)
c.-14+3805G>A (n.-14+3805G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817209A>CCA363418708HSPA1A,HSPA1Lc.1453A>C (p.Ile485Leu)
c.958A>C (p.Ile320Leu)
c.-14+3804T>G (n.-14+3804T>G)
6g.31817209A>GCA363418714HSPA1A,HSPA1Lc.1453A>G (p.Ile485Val)
c.958A>G (p.Ile320Val)
c.-14+3804T>C (n.-14+3804T>C)
6g.31817209A>TCA363418732HSPA1A,HSPA1Lc.1453A>T (p.Ile485Phe)
c.958A>T (p.Ile320Phe)
c.-14+3804T>A (n.-14+3804T>A)
6g.31817210T>ACA363418742HSPA1A,HSPA1Lc.1454T>A (p.Ile485Asn)
c.959T>A (p.Ile320Asn)
c.-14+3803A>T (n.-14+3803A>T)
6g.31817210T>CCA363418746HSPA1A,HSPA1Lc.1454T>C (p.Ile485Thr)
c.959T>C (p.Ile320Thr)
c.-14+3803A>G (n.-14+3803A>G)
6g.31817210T>GCA363418750HSPA1A,HSPA1Lc.1454T>G (p.Ile485Ser)
c.959T>G (p.Ile320Ser)
c.-14+3803A>C (n.-14+3803A>C)
6g.31817211C>ACA449806566HSPA1A,HSPA1Lc.1455C>A (p.Ile485=)
c.960C>A (p.Ile320=)
c.-14+3802G>T (n.-14+3802G>T)
6g.31817211C=CA1619307611HSPA1A,HSPA1Lc.1455C= (p.Ile485=)
c.960C= (p.Ile320=)
c.-14+3802G= (n.-14+3802G=)
6g.31817211C>GCA363418759HSPA1A,HSPA1Lc.1455C>G (p.Ile485Met)
c.960C>G (p.Ile320Met)
c.-14+3802G>C (n.-14+3802G>C)
6g.31817211C>TCA449806567HSPA1A,HSPA1Lc.1455C>T (p.Ile485=)
c.960C>T (p.Ile320=)
c.-14+3802G>A (n.-14+3802G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.31817212C>ACA363418800HSPA1A,HSPA1Lc.1456C>A (p.Leu486Met)
c.961C>A (p.Leu321Met)
c.-14+3801G>T (n.-14+3801G>T)
6g.31817212C>GCA363418801HSPA1A,HSPA1Lc.1456C>G (p.Leu486Val)
c.961C>G (p.Leu321Val)
c.-14+3801G>C (n.-14+3801G>C)
 gnomAD v4
6g.31817212C>TCA449806571HSPA1A,HSPA1Lc.1456C>T (p.Leu486=)
c.961C>T (p.Leu321=)
c.-14+3801G>A (n.-14+3801G>A)
6g.31817213T>ACA363418803HSPA1A,HSPA1Lc.1457T>A (p.Leu486Gln)
c.962T>A (p.Leu321Gln)
c.-14+3800A>T (n.-14+3800A>T)
6g.31817213T>CCA363418804HSPA1A,HSPA1Lc.1457T>C (p.Leu486Pro)
c.962T>C (p.Leu321Pro)
c.-14+3800A>G (n.-14+3800A>G)
6g.31817213T>GCA363418811HSPA1A,HSPA1Lc.1457T>G (p.Leu486Arg)
c.962T>G (p.Leu321Arg)
c.-14+3800A>C (n.-14+3800A>C)
6g.31817214G>ACA449806575HSPA1A,HSPA1Lc.1458G>A (p.Leu486=)
c.963G>A (p.Leu321=)
c.-14+3799C>T (n.-14+3799C>T)
6g.31817214G>CCA449806577HSPA1A,HSPA1Lc.1458G>C (p.Leu486=)
c.963G>C (p.Leu321=)
c.-14+3799C>G (n.-14+3799C>G)
6g.31817214G>TCA449806580HSPA1A,HSPA1Lc.1458G>T (p.Leu486=)
c.963G>T (p.Leu321=)
c.-14+3799C>A (n.-14+3799C>A)
6g.31817215A>CCA363418818HSPA1A,HSPA1Lc.1459A>C (p.Asn487His)
c.964A>C (p.Asn322His)
c.-14+3798T>G (n.-14+3798T>G)
6g.31817215A>GCA363418822HSPA1A,HSPA1Lc.1459A>G (p.Asn487Asp)
c.964A>G (p.Asn322Asp)
c.-14+3798T>C (n.-14+3798T>C)
 gnomAD v4
6g.31817215A>TCA363418830HSPA1A,HSPA1Lc.1459A>T (p.Asn487Tyr)
c.964A>T (p.Asn322Tyr)
c.-14+3798T>A (n.-14+3798T>A)
6g.31817216A=CA1619307612HSPA1A,HSPA1Lc.1460A= (p.Asn487=)
c.965A= (p.Asn322=)
c.-14+3797T= (n.-14+3797T=)
6g.31817216A>CCA363418836HSPA1A,HSPA1Lc.1460A>C (p.Asn487Thr)
c.965A>C (p.Asn322Thr)
c.-14+3797T>G (n.-14+3797T>G)
6g.31817216A>GCA363418841HSPA1A,HSPA1Lc.1460A>G (p.Asn487Ser)
c.965A>G (p.Asn322Ser)
c.-14+3797T>C (n.-14+3797T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.31817216A>TCA363418850HSPA1A,HSPA1Lc.1460A>T (p.Asn487Ile)
c.965A>T (p.Asn322Ile)
c.-14+3797T>A (n.-14+3797T>A)
6g.31817217C>ACA363418853HSPA1A,HSPA1Lc.1461C>A (p.Asn487Lys)
c.966C>A (p.Asn322Lys)
c.-14+3796G>T (n.-14+3796G>T)
 gnomAD v4
6g.31817217C=CA1619307613HSPA1A,HSPA1Lc.1461C= (p.Asn487=)
c.966C= (p.Asn322=)
c.-14+3796G= (n.-14+3796G=)
6g.31817217C>GCA363418856HSPA1A,HSPA1Lc.1461C>G (p.Asn487Lys)
c.966C>G (p.Asn322Lys)
c.-14+3796G>C (n.-14+3796G>C)
 gnomAD v4
6g.31817217C>TCA449806583HSPA1A,HSPA1Lc.1461C>T (p.Asn487=)
c.966C>T (p.Asn322=)
c.-14+3796G>A (n.-14+3796G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817218G>ACA363418895HSPA1A,HSPA1Lc.1462G>A (p.Val488Ile)
c.967G>A (p.Val323Ile)
c.-14+3795C>T (n.-14+3795C>T)
 gnomAD v4
6g.31817218G>CCA363418876HSPA1A,HSPA1Lc.1462G>C (p.Val488Leu)
c.967G>C (p.Val323Leu)
c.-14+3795C>G (n.-14+3795C>G)
6g.31817218G>TCA363418872HSPA1A,HSPA1Lc.1462G>T (p.Val488Phe)
c.967G>T (p.Val323Phe)
c.-14+3795C>A (n.-14+3795C>A)
6g.31817219T>ACA363418911HSPA1A,HSPA1Lc.1463T>A (p.Val488Asp)
c.968T>A (p.Val323Asp)
c.-14+3794A>T (n.-14+3794A>T)
6g.31817219T>CCA363418916HSPA1A,HSPA1Lc.1463T>C (p.Val488Ala)
c.968T>C (p.Val323Ala)
c.-14+3794A>G (n.-14+3794A>G)
6g.31817219T>GCA363418923HSPA1A,HSPA1Lc.1463T>G (p.Val488Gly)
c.968T>G (p.Val323Gly)
c.-14+3794A>C (n.-14+3794A>C)
6g.31817220C>ACA449806591HSPA1A,HSPA1Lc.1464C>A (p.Val488=)
c.969C>A (p.Val323=)
c.-14+3793G>T (n.-14+3793G>T)
 gnomAD v4
6g.31817220C>GCA449806593HSPA1A,HSPA1Lc.1464C>G (p.Val488=)
c.969C>G (p.Val323=)
c.-14+3793G>C (n.-14+3793G>C)
6g.31817220C>TCA449806594HSPA1A,HSPA1Lc.1464C>T (p.Val488=)
c.969C>T (p.Val323=)
c.-14+3793G>A (n.-14+3793G>A)
6g.31817221A=CA1619307614HSPA1A,HSPA1Lc.1465A= (p.Thr489=)
c.970A= (p.Thr324=)
c.-14+3792T= (n.-14+3792T=)
6g.31817221A>CCA363418927HSPA1A,HSPA1Lc.1465A>C (p.Thr489Pro)
c.970A>C (p.Thr324Pro)
c.-14+3792T>G (n.-14+3792T>G)
 gnomAD v4
6g.31817221A>GCA363418938HSPA1A,HSPA1Lc.1465A>G (p.Thr489Ala)
c.970A>G (p.Thr324Ala)
c.-14+3792T>C (n.-14+3792T>C)
 dbSNP
6g.31817221A>TCA363418947HSPA1A,HSPA1Lc.1465A>T (p.Thr489Ser)
c.970A>T (p.Thr324Ser)
c.-14+3792T>A (n.-14+3792T>A)
6g.31817222C>ACA363418953HSPA1A,HSPA1Lc.1466C>A (p.Thr489Lys)
c.971C>A (p.Thr324Lys)
c.-14+3791G>T (n.-14+3791G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.31817222C=CA1619307615HSPA1A,HSPA1Lc.1466C= (p.Thr489=)
c.971C= (p.Thr324=)
c.-14+3791G= (n.-14+3791G=)
6g.31817222C>GCA363418955HSPA1A,HSPA1Lc.1466C>G (p.Thr489Arg)
c.971C>G (p.Thr324Arg)
c.-14+3791G>C (n.-14+3791G>C)
6g.31817222C>TCA363418958HSPA1A,HSPA1Lc.1466C>T (p.Thr489Met)
c.971C>T (p.Thr324Met)
c.-14+3791G>A (n.-14+3791G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817223G>ACA449806598HSPA1A,HSPA1Lc.1467G>A (p.Thr489=)
c.972G>A (p.Thr324=)
c.-14+3790C>T (n.-14+3790C>T)
 gnomAD v4
6g.31817223G>CCA449806600HSPA1A,HSPA1Lc.1467G>C (p.Thr489=)
c.972G>C (p.Thr324=)
c.-14+3790C>G (n.-14+3790C>G)
6g.31817223G>TCA449806601HSPA1A,HSPA1Lc.1467G>T (p.Thr489=)
c.972G>T (p.Thr324=)
c.-14+3790C>A (n.-14+3790C>A)
6g.31817224delCA2832544491HSPA1A,HSPA1Lc.1468del (p.Ala490ProfsTer21)
c.973del (p.Ala325ProfsTer21)
c.-14+3790del (n.-14+3790del)
6g.31817224G>ACA363418963HSPA1A,HSPA1Lc.1468G>A (p.Ala490Thr)
c.973G>A (p.Ala325Thr)
c.-14+3789C>T (n.-14+3789C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817224G>CCA363418967HSPA1A,HSPA1Lc.1468G>C (p.Ala490Pro)
c.973G>C (p.Ala325Pro)
c.-14+3789C>G (n.-14+3789C>G)
6g.31817224G=CA1619307616HSPA1A,HSPA1Lc.1468G= (p.Ala490=)
c.973G= (p.Ala325=)
c.-14+3789C= (n.-14+3789C=)
6g.31817224G>TCA363418971HSPA1A,HSPA1Lc.1468G>T (p.Ala490Ser)
c.973G>T (p.Ala325Ser)
c.-14+3789C>A (n.-14+3789C>A)
6g.31817225C>ACA363418978HSPA1A,HSPA1Lc.1469C>A (p.Ala490Asp)
c.974C>A (p.Ala325Asp)
c.-14+3788G>T (n.-14+3788G>T)
 gnomAD v4
6g.31817225C=CA1619307617HSPA1A,HSPA1Lc.1469C= (p.Ala490=)
c.974C= (p.Ala325=)
c.-14+3788G= (n.-14+3788G=)
6g.31817225C>GCA363418977HSPA1A,HSPA1Lc.1469C>G (p.Ala490Gly)
c.974C>G (p.Ala325Gly)
c.-14+3788G>C (n.-14+3788G>C)
6g.31817225C>TCA363418976HSPA1A,HSPA1Lc.1469C>T (p.Ala490Val)
c.974C>T (p.Ala325Val)
c.-14+3788G>A (n.-14+3788G>A)
 dbSNP gnomAD v4
6g.31817225_31817238dupCA2678045961HSPA1A,HSPA1Lc.1469_1482dup (p.Thr495ProfsTer21)
c.974_987dup (p.Thr330ProfsTer21)
c.-14+3775_-14+3788dup (n.-14+3775_-14+3788dup)
 gnomAD v4
6g.31817226C>ACA449806605HSPA1A,HSPA1Lc.1470C>A (p.Ala490=)
c.975C>A (p.Ala325=)
c.-14+3787G>T (n.-14+3787G>T)
 gnomAD v4
6g.31817226C>GCA449806607HSPA1A,HSPA1Lc.1470C>G (p.Ala490=)
c.975C>G (p.Ala325=)
c.-14+3787G>C (n.-14+3787G>C)
6g.31817226C>TCA449806606HSPA1A,HSPA1Lc.1470C>T (p.Ala490=)
c.975C>T (p.Ala325=)
c.-14+3787G>A (n.-14+3787G>A)
 gnomAD v4
6g.31817227A>CCA363418984HSPA1A,HSPA1Lc.1471A>C (p.Thr491Pro)
c.976A>C (p.Thr326Pro)
c.-14+3786T>G (n.-14+3786T>G)
6g.31817227A>GCA363418985HSPA1A,HSPA1Lc.1471A>G (p.Thr491Ala)
c.976A>G (p.Thr326Ala)
c.-14+3786T>C (n.-14+3786T>C)
6g.31817227A>TCA363418986HSPA1A,HSPA1Lc.1471A>T (p.Thr491Ser)
c.976A>T (p.Thr326Ser)
c.-14+3786T>A (n.-14+3786T>A)
 gnomAD v4
6g.31817228C>ACA363418987HSPA1A,HSPA1Lc.1472C>A (p.Thr491Lys)
c.977C>A (p.Thr326Lys)
c.-14+3785G>T (n.-14+3785G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817228C=CA1619307618HSPA1A,HSPA1Lc.1472C= (p.Thr491=)
c.977C= (p.Thr326=)
c.-14+3785G= (n.-14+3785G=)
6g.31817228C>GCA363418988HSPA1A,HSPA1Lc.1472C>G (p.Thr491Arg)
c.977C>G (p.Thr326Arg)
c.-14+3785G>C (n.-14+3785G>C)
6g.31817228C>TCA363418989HSPA1A,HSPA1Lc.1472C>T (p.Thr491Met)
c.977C>T (p.Thr326Met)
c.-14+3785G>A (n.-14+3785G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817229G>ACA449806612HSPA1A,HSPA1Lc.1473G>A (p.Thr491=)
c.978G>A (p.Thr326=)
c.-14+3784C>T (n.-14+3784C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.31817229G>CCA449806615HSPA1A,HSPA1Lc.1473G>C (p.Thr491=)
c.978G>C (p.Thr326=)
c.-14+3784C>G (n.-14+3784C>G)
6g.31817229G=CA1619307619HSPA1A,HSPA1Lc.1473G= (p.Thr491=)
c.978G= (p.Thr326=)
c.-14+3784C= (n.-14+3784C=)
6g.31817229G>TCA449806613HSPA1A,HSPA1Lc.1473G>T (p.Thr491=)
c.978G>T (p.Thr326=)
c.-14+3784C>A (n.-14+3784C>A)
6g.31817230G>ACA363419017HSPA1A,HSPA1Lc.1474G>A (p.Asp492Asn)
c.979G>A (p.Asp327Asn)
c.-14+3783C>T (n.-14+3783C>T)
6g.31817230G>CCA363418991HSPA1A,HSPA1Lc.1474G>C (p.Asp492His)
c.979G>C (p.Asp327His)
c.-14+3783C>G (n.-14+3783C>G)
6g.31817230G>TCA363418994HSPA1A,HSPA1Lc.1474G>T (p.Asp492Tyr)
c.979G>T (p.Asp327Tyr)
c.-14+3783C>A (n.-14+3783C>A)
6g.31817231A=CA1619307620HSPA1A,HSPA1Lc.1475A= (p.Asp492=)
c.980A= (p.Asp327=)
c.-14+3782T= (n.-14+3782T=)
6g.31817231A>CCA363419040HSPA1A,HSPA1Lc.1475A>C (p.Asp492Ala)
c.980A>C (p.Asp327Ala)
c.-14+3782T>G (n.-14+3782T>G)
6g.31817231A>GCA363419042HSPA1A,HSPA1Lc.1475A>G (p.Asp492Gly)
c.980A>G (p.Asp327Gly)
c.-14+3782T>C (n.-14+3782T>C)
6g.31817231A>TCA363419046HSPA1A,HSPA1Lc.1475A>T (p.Asp492Val)
c.980A>T (p.Asp327Val)
c.-14+3782T>A (n.-14+3782T>A)
 dbSNP gnomAD v4
6g.31817232C>ACA363419050HSPA1A,HSPA1Lc.1476C>A (p.Asp492Glu)
c.981C>A (p.Asp327Glu)
c.-14+3781G>T (n.-14+3781G>T)
 gnomAD v4
6g.31817232C>GCA363419054HSPA1A,HSPA1Lc.1476C>G (p.Asp492Glu)
c.981C>G (p.Asp327Glu)
c.-14+3781G>C (n.-14+3781G>C)
6g.31817232C>TCA449806621HSPA1A,HSPA1Lc.1476C>T (p.Asp492=)
c.981C>T (p.Asp327=)
c.-14+3781G>A (n.-14+3781G>A)
6g.31817232_31817234delinsCAACA1619307621HSPA1A,HSPA1Lc.1476_1478delinsCAA (p.Asp492=)
c.981_983delinsCAA (p.Asp327=)
c.-14+3779_-14+3781delinsTTG (n.-14+3779_-14+3781delinsTTG)
6g.31817233A=CA1619307622HSPA1A,HSPA1Lc.1477A= (p.Lys493=)
c.982A= (p.Lys328=)
c.-14+3780T= (n.-14+3780T=)
6g.31817233A>CCA363419069HSPA1A,HSPA1Lc.1477A>C (p.Lys493Gln)
c.982A>C (p.Lys328Gln)
c.-14+3780T>G (n.-14+3780T>G)
6g.31817233A>GCA363419059HSPA1A,HSPA1Lc.1477A>G (p.Lys493Glu)
c.982A>G (p.Lys328Glu)
c.-14+3780T>C (n.-14+3780T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.31817233A>TCA363419062HSPA1A,HSPA1Lc.1477A>T (p.Lys493Ter)
c.982A>T (p.Lys328Ter)
c.-14+3780T>A (n.-14+3780T>A)
6g.31817233_31817234delCA566692202HSPA1A,HSPA1Lc.1477_1478del (p.Lys493GlufsTer?)
c.982_983del (p.Lys328GlufsTer?)
c.-14+3779_-14+3780del (n.-14+3779_-14+3780del)
 dbSNP gnomAD v2 gnomAD v4
6g.31817234_31817236delCA2678045994HSPA1A,HSPA1Lc.1478_1480del (p.Lys493del)
c.983_985del (p.Lys328del)
c.-14+3778_-14+3780del (n.-14+3778_-14+3780del)
 gnomAD v4
6g.31817234A>CCA363419071HSPA1A,HSPA1Lc.1478A>C (p.Lys493Thr)
c.983A>C (p.Lys328Thr)
c.-14+3779T>G (n.-14+3779T>G)
6g.31817234A>GCA363419072HSPA1A,HSPA1Lc.1478A>G (p.Lys493Arg)
c.983A>G (p.Lys328Arg)
c.-14+3779T>C (n.-14+3779T>C)
6g.31817234A>TCA363419073HSPA1A,HSPA1Lc.1478A>T (p.Lys493Met)
c.983A>T (p.Lys328Met)
c.-14+3779T>A (n.-14+3779T>A)
6g.31817235G>ACA449806626HSPA1A,HSPA1Lc.1479G>A (p.Lys493=)
c.984G>A (p.Lys328=)
c.-14+3778C>T (n.-14+3778C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.31817235G>CCA363419079HSPA1A,HSPA1Lc.1479G>C (p.Lys493Asn)
c.984G>C (p.Lys328Asn)
c.-14+3778C>G (n.-14+3778C>G)
6g.31817235G=CA1619307623HSPA1A,HSPA1Lc.1479G= (p.Lys493=)
c.984G= (p.Lys328=)
c.-14+3778C= (n.-14+3778C=)
6g.31817235G>TCA363419081HSPA1A,HSPA1Lc.1479G>T (p.Lys493Asn)
c.984G>T (p.Lys328Asn)
c.-14+3778C>A (n.-14+3778C>A)
6g.31817236A>CCA363419084HSPA1A,HSPA1Lc.1480A>C (p.Ser494Arg)
c.985A>C (p.Ser329Arg)
c.-14+3777T>G (n.-14+3777T>G)
6g.31817236A>GCA363419088HSPA1A,HSPA1Lc.1480A>G (p.Ser494Gly)
c.985A>G (p.Ser329Gly)
c.-14+3777T>C (n.-14+3777T>C)
6g.31817236A>TCA363419092HSPA1A,HSPA1Lc.1480A>T (p.Ser494Cys)
c.985A>T (p.Ser329Cys)
c.-14+3777T>A (n.-14+3777T>A)
6g.31817237G>ACA363419099HSPA1A,HSPA1Lc.1481G>A (p.Ser494Asn)
c.986G>A (p.Ser329Asn)
c.-14+3776C>T (n.-14+3776C>T)
 gnomAD v4
6g.31817237G>CCA363419100HSPA1A,HSPA1Lc.1481G>C (p.Ser494Thr)
c.986G>C (p.Ser329Thr)
c.-14+3776C>G (n.-14+3776C>G)
6g.31817237G>TCA363419101HSPA1A,HSPA1Lc.1481G>T (p.Ser494Ile)
c.986G>T (p.Ser329Ile)
c.-14+3776C>A (n.-14+3776C>A)
6g.31817238C>ACA363419102HSPA1A,HSPA1Lc.1482C>A (p.Ser494Arg)
c.987C>A (p.Ser329Arg)
c.-14+3775G>T (n.-14+3775G>T)
 gnomAD v4
6g.31817238C=CA1619307624HSPA1A,HSPA1Lc.1482C= (p.Ser494=)
c.987C= (p.Ser329=)
c.-14+3775G= (n.-14+3775G=)
6g.31817238C>GCA363419108HSPA1A,HSPA1Lc.1482C>G (p.Ser494Arg)
c.987C>G (p.Ser329Arg)
c.-14+3775G>C (n.-14+3775G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.31817238C>TCA449806628HSPA1A,HSPA1Lc.1482C>T (p.Ser494=)
c.987C>T (p.Ser329=)
c.-14+3775G>A (n.-14+3775G>A)
6g.31817239A>CCA363419124HSPA1A,HSPA1Lc.1483A>C (p.Thr495Pro)
c.988A>C (p.Thr330Pro)
c.-14+3774T>G (n.-14+3774T>G)
6g.31817239A>GCA363419126HSPA1A,HSPA1Lc.1483A>G (p.Thr495Ala)
c.988A>G (p.Thr330Ala)
c.-14+3774T>C (n.-14+3774T>C)
6g.31817239A>TCA363419125HSPA1A,HSPA1Lc.1483A>T (p.Thr495Ser)
c.988A>T (p.Thr330Ser)
c.-14+3774T>A (n.-14+3774T>A)
6g.31817239_31817242delinsACCGCA1619307625HSPA1A,HSPA1Lc.1483_1486delinsACCG (p.Thr495=)
c.988_991delinsACCG (p.Thr330=)
c.-14+3771_-14+3774delinsCGGT (n.-14+3771_-14+3774delinsCGGT)
6g.31817240C>ACA363419146HSPA1A,HSPA1Lc.1484C>A (p.Thr495Asn)
c.989C>A (p.Thr330Asn)
c.-14+3773G>T (n.-14+3773G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.31817240C=CA1619307626HSPA1A,HSPA1Lc.1484C= (p.Thr495=)
c.989C= (p.Thr330=)
c.-14+3773G= (n.-14+3773G=)
6g.31817240C>GCA363419153HSPA1A,HSPA1Lc.1484C>G (p.Thr495Ser)
c.989C>G (p.Thr330Ser)
c.-14+3773G>C (n.-14+3773G>C)
6g.31817240C>TCA363419163HSPA1A,HSPA1Lc.1484C>T (p.Thr495Ile)
c.989C>T (p.Thr330Ile)
c.-14+3773G>A (n.-14+3773G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817240_31817242delCA449806629HSPA1A,HSPA1Lc.1484_1486del (p.Thr495_Gly496delinsSer)
c.989_991del (p.Thr330_Gly331delinsSer)
c.-14+3771_-14+3773del (n.-14+3771_-14+3773del)
 dbSNP
6g.31817241C>ACA449806631HSPA1A,HSPA1Lc.1485C>A (p.Thr495=)
c.990C>A (p.Thr330=)
c.-14+3772G>T (n.-14+3772G>T)
6g.31817241C=CA1619307627HSPA1A,HSPA1Lc.1485C= (p.Thr495=)
c.990C= (p.Thr330=)
c.-14+3772G= (n.-14+3772G=)
6g.31817241C>GCA449806632HSPA1A,HSPA1Lc.1485C>G (p.Thr495=)
c.990C>G (p.Thr330=)
c.-14+3772G>C (n.-14+3772G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817241C>TCA449806633HSPA1A,HSPA1Lc.1485C>T (p.Thr495=)
c.990C>T (p.Thr330=)
c.-14+3772G>A (n.-14+3772G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817242_31817244delCA363419177HSPA1A,HSPA1Lc.1486_1488del (p.Gly496del)
c.991_993del (p.Gly331del)
c.-14+3770_-14+3772del (n.-14+3770_-14+3772del)
6g.31817242G>ACA363419181HSPA1A,HSPA1Lc.1486G>A (p.Gly496Ser)
c.991G>A (p.Gly331Ser)
c.-14+3771C>T (n.-14+3771C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.31817242G>CCA363419183HSPA1A,HSPA1Lc.1486G>C (p.Gly496Arg)
c.991G>C (p.Gly331Arg)
c.-14+3771C>G (n.-14+3771C>G)
6g.31817242G=CA1619307628HSPA1A,HSPA1Lc.1486G= (p.Gly496=)
c.991G= (p.Gly331=)
c.-14+3771C= (n.-14+3771C=)
6g.31817242G>TCA363419186HSPA1A,HSPA1Lc.1486G>T (p.Gly496Cys)
c.991G>T (p.Gly331Cys)
c.-14+3771C>A (n.-14+3771C>A)
6g.31817243G>ACA363419191HSPA1A,HSPA1Lc.1487G>A (p.Gly496Asp)
c.992G>A (p.Gly331Asp)
c.-14+3770C>T (n.-14+3770C>T)
6g.31817243G>CCA363419195HSPA1A,HSPA1Lc.1487G>C (p.Gly496Ala)
c.992G>C (p.Gly331Ala)
c.-14+3770C>G (n.-14+3770C>G)
6g.31817243G>TCA363419201HSPA1A,HSPA1Lc.1487G>T (p.Gly496Val)
c.992G>T (p.Gly331Val)
c.-14+3770C>A (n.-14+3770C>A)
6g.31817244C>ACA449806636HSPA1A,HSPA1Lc.1488C>A (p.Gly496=)
c.993C>A (p.Gly331=)
c.-14+3769G>T (n.-14+3769G>T)
 gnomAD v4
6g.31817244C=CA1619307629HSPA1A,HSPA1Lc.1488C= (p.Gly496=)
c.993C= (p.Gly331=)
c.-14+3769G= (n.-14+3769G=)
6g.31817244C>GCA449806637HSPA1A,HSPA1Lc.1488C>G (p.Gly496=)
c.993C>G (p.Gly331=)
c.-14+3769G>C (n.-14+3769G>C)
 dbSNP
6g.31817244C>TCA449806638HSPA1A,HSPA1Lc.1488C>T (p.Gly496=)
c.993C>T (p.Gly331=)
c.-14+3769G>A (n.-14+3769G>A)
 dbSNP
6g.31817245A>CCA363419211HSPA1A,HSPA1Lc.1489A>C (p.Lys497Gln)
c.994A>C (p.Lys332Gln)
c.-14+3768T>G (n.-14+3768T>G)
 gnomAD v4
6g.31817245A>GCA363419216HSPA1A,HSPA1Lc.1489A>G (p.Lys497Glu)
c.994A>G (p.Lys332Glu)
c.-14+3768T>C (n.-14+3768T>C)
6g.31817245A>TCA363419223HSPA1A,HSPA1Lc.1489A>T (p.Lys497Ter)
c.994A>T (p.Lys332Ter)
c.-14+3768T>A (n.-14+3768T>A)
6g.31817246A>CCA363419240HSPA1A,HSPA1Lc.1490A>C (p.Lys497Thr)
c.995A>C (p.Lys332Thr)
c.-14+3767T>G (n.-14+3767T>G)
6g.31817246A>GCA363419243HSPA1A,HSPA1Lc.1490A>G (p.Lys497Arg)
c.995A>G (p.Lys332Arg)
c.-14+3767T>C (n.-14+3767T>C)
6g.31817246A>TCA363419242HSPA1A,HSPA1Lc.1490A>T (p.Lys497Met)
c.995A>T (p.Lys332Met)
c.-14+3767T>A (n.-14+3767T>A)
6g.31817247G>ACA449806639HSPA1A,HSPA1Lc.1491G>A (p.Lys497=)
c.996G>A (p.Lys332=)
c.-14+3766C>T (n.-14+3766C>T)
 gnomAD v4
6g.31817247G>CCA363419248HSPA1A,HSPA1Lc.1491G>C (p.Lys497Asn)
c.996G>C (p.Lys332Asn)
c.-14+3766C>G (n.-14+3766C>G)
6g.31817247G>TCA363419256HSPA1A,HSPA1Lc.1491G>T (p.Lys497Asn)
c.996G>T (p.Lys332Asn)
c.-14+3766C>A (n.-14+3766C>A)
6g.31817248G>ACA363419257HSPA1A,HSPA1Lc.1492G>A (p.Ala498Thr)
c.997G>A (p.Ala333Thr)
c.-14+3765C>T (n.-14+3765C>T)
 gnomAD v4
6g.31817248G>CCA363419260HSPA1A,HSPA1Lc.1492G>C (p.Ala498Pro)
c.997G>C (p.Ala333Pro)
c.-14+3765C>G (n.-14+3765C>G)
6g.31817248G>TCA363419263HSPA1A,HSPA1Lc.1492G>T (p.Ala498Ser)
c.997G>T (p.Ala333Ser)
c.-14+3765C>A (n.-14+3765C>A)
 gnomAD v4
6g.31817249C>ACA363419270HSPA1A,HSPA1Lc.1493C>A (p.Ala498Asp)
c.998C>A (p.Ala333Asp)
c.-14+3764G>T (n.-14+3764G>T)
 gnomAD v4
6g.31817249C=CA1619307630HSPA1A,HSPA1Lc.1493C= (p.Ala498=)
c.998C= (p.Ala333=)
c.-14+3764G= (n.-14+3764G=)
6g.31817249C>GCA363419271HSPA1A,HSPA1Lc.1493C>G (p.Ala498Gly)
c.998C>G (p.Ala333Gly)
c.-14+3764G>C (n.-14+3764G>C)
6g.31817249C>TCA363419272HSPA1A,HSPA1Lc.1493C>T (p.Ala498Val)
c.998C>T (p.Ala333Val)
c.-14+3764G>A (n.-14+3764G>A)
 dbSNP gnomAD v2
6g.31817250C>ACA449806644HSPA1A,HSPA1Lc.1494C>A (p.Ala498=)
c.999C>A (p.Ala333=)
c.-14+3763G>T (n.-14+3763G>T)
 gnomAD v4
6g.31817250C=CA1619307631HSPA1A,HSPA1Lc.1494C= (p.Ala498=)
c.999C= (p.Ala333=)
c.-14+3763G= (n.-14+3763G=)
6g.31817250C>GCA449806646HSPA1A,HSPA1Lc.1494C>G (p.Ala498=)
c.999C>G (p.Ala333=)
c.-14+3763G>C (n.-14+3763G>C)
 dbSNP gnomAD v2
6g.31817250C>TCA449806645HSPA1A,HSPA1Lc.1494C>T (p.Ala498=)
c.999C>T (p.Ala333=)
c.-14+3763G>A (n.-14+3763G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817251A=CA1619307632HSPA1A,HSPA1Lc.1495A= (p.Asn499=)
c.1000A= (p.Asn334=)
c.-14+3762T= (n.-14+3762T=)
6g.31817251A>CCA363419279HSPA1A,HSPA1Lc.1495A>C (p.Asn499His)
c.1000A>C (p.Asn334His)
c.-14+3762T>G (n.-14+3762T>G)
6g.31817251A>GCA363419293HSPA1A,HSPA1Lc.1495A>G (p.Asn499Asp)
c.1000A>G (p.Asn334Asp)
c.-14+3762T>C (n.-14+3762T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.31817251A>TCA363419299HSPA1A,HSPA1Lc.1495A>T (p.Asn499Tyr)
c.1000A>T (p.Asn334Tyr)
c.-14+3762T>A (n.-14+3762T>A)
6g.31817252A=CA1619307633HSPA1A,HSPA1Lc.1496A= (p.Asn499=)
c.1001A= (p.Asn334=)
c.-14+3761T= (n.-14+3761T=)
6g.31817252A>CCA363419305HSPA1A,HSPA1Lc.1496A>C (p.Asn499Thr)
c.1001A>C (p.Asn334Thr)
c.-14+3761T>G (n.-14+3761T>G)
6g.31817252A>GCA3724258HSPA1A,HSPA1Lc.1496A>G (p.Asn499Ser)
c.1001A>G (p.Asn334Ser)
c.-14+3761T>C (n.-14+3761T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31817252A>TCA363419303HSPA1A,HSPA1Lc.1496A>T (p.Asn499Ile)
c.1001A>T (p.Asn334Ile)
c.-14+3761T>A (n.-14+3761T>A)
6g.31817253C>ACA363419313HSPA1A,HSPA1Lc.1497C>A (p.Asn499Lys)
c.1002C>A (p.Asn334Lys)
c.-14+3760G>T (n.-14+3760G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.31817253C=CA1619307634HSPA1A,HSPA1Lc.1497C= (p.Asn499=)
c.1002C= (p.Asn334=)
c.-14+3760G= (n.-14+3760G=)
6g.31817253C>GCA3724259HSPA1A,HSPA1Lc.1497C>G (p.Asn499Lys)
c.1002C>G (p.Asn334Lys)
c.-14+3760G>C (n.-14+3760G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31817253C>TCA449806650HSPA1A,HSPA1Lc.1497C>T (p.Asn499=)
c.1002C>T (p.Asn334=)
c.-14+3760G>A (n.-14+3760G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817254A>CCA363419319HSPA1A,HSPA1Lc.1498A>C (p.Lys500Gln)
c.1003A>C (p.Lys335Gln)
c.-14+3759T>G (n.-14+3759T>G)
6g.31817254A>GCA363419323HSPA1A,HSPA1Lc.1498A>G (p.Lys500Glu)
c.1003A>G (p.Lys335Glu)
c.-14+3759T>C (n.-14+3759T>C)
6g.31817254A>TCA363419324HSPA1A,HSPA1Lc.1498A>T (p.Lys500Ter)
c.1003A>T (p.Lys335Ter)
c.-14+3759T>A (n.-14+3759T>A)
6g.31817255A>CCA363419325HSPA1A,HSPA1Lc.1499A>C (p.Lys500Thr)
c.1004A>C (p.Lys335Thr)
c.-14+3758T>G (n.-14+3758T>G)
6g.31817255A>GCA363419326HSPA1A,HSPA1Lc.1499A>G (p.Lys500Arg)
c.1004A>G (p.Lys335Arg)
c.-14+3758T>C (n.-14+3758T>C)
6g.31817255A>TCA363419330HSPA1A,HSPA1Lc.1499A>T (p.Lys500Met)
c.1004A>T (p.Lys335Met)
c.-14+3758T>A (n.-14+3758T>A)
6g.31817256G>ACA449806653HSPA1A,HSPA1Lc.1500G>A (p.Lys500=)
c.1005G>A (p.Lys335=)
c.-14+3757C>T (n.-14+3757C>T)
6g.31817256G>CCA363419341HSPA1A,HSPA1Lc.1500G>C (p.Lys500Asn)
c.1005G>C (p.Lys335Asn)
c.-14+3757C>G (n.-14+3757C>G)
6g.31817256G>TCA363419352HSPA1A,HSPA1Lc.1500G>T (p.Lys500Asn)
c.1005G>T (p.Lys335Asn)
c.-14+3757C>A (n.-14+3757C>A)
 gnomAD v4
6g.31817257A>CCA363419357HSPA1A,HSPA1Lc.1501A>C (p.Ile501Leu)
c.1006A>C (p.Ile336Leu)
c.-14+3756T>G (n.-14+3756T>G)
6g.31817257A>GCA363419362HSPA1A,HSPA1Lc.1501A>G (p.Ile501Val)
c.1006A>G (p.Ile336Val)
c.-14+3756T>C (n.-14+3756T>C)
6g.31817257A>TCA363419367HSPA1A,HSPA1Lc.1501A>T (p.Ile501Phe)
c.1006A>T (p.Ile336Phe)
c.-14+3756T>A (n.-14+3756T>A)
6g.31817258T>ACA363419368HSPA1A,HSPA1Lc.1502T>A (p.Ile501Asn)
c.1007T>A (p.Ile336Asn)
c.-14+3755A>T (n.-14+3755A>T)
6g.31817258T>CCA363419369HSPA1A,HSPA1Lc.1502T>C (p.Ile501Thr)
c.1007T>C (p.Ile336Thr)
c.-14+3755A>G (n.-14+3755A>G)
6g.31817258T>GCA363419370HSPA1A,HSPA1Lc.1502T>G (p.Ile501Ser)
c.1007T>G (p.Ile336Ser)
c.-14+3755A>C (n.-14+3755A>C)
6g.31817258_31817261delinsTCACCA1619307635HSPA1A,HSPA1Lc.1502_1505delinsTCAC (p.Ile501=)
c.1007_1010delinsTCAC (p.Ile336=)
c.-14+3752_-14+3755delinsGTGA (n.-14+3752_-14+3755delinsGTGA)
6g.31817259C>ACA449806662HSPA1A,HSPA1Lc.1503C>A (p.Ile501=)
c.1008C>A (p.Ile336=)
c.-14+3754G>T (n.-14+3754G>T)
 gnomAD v4
6g.31817259C>GCA363419372HSPA1A,HSPA1Lc.1503C>G (p.Ile501Met)
c.1008C>G (p.Ile336Met)
c.-14+3754G>C (n.-14+3754G>C)
6g.31817259C>TCA449806661HSPA1A,HSPA1Lc.1503C>T (p.Ile501=)
c.1008C>T (p.Ile336=)
c.-14+3754G>A (n.-14+3754G>A)
 gnomAD v4
6g.31817261_31817263delCA566692203HSPA1A,HSPA1Lc.1505_1507del (p.Thr502del)
c.1010_1012del (p.Thr337del)
c.-14+3752_-14+3754del (n.-14+3752_-14+3754del)
 dbSNP gnomAD v2
6g.31817260A>CCA363419379HSPA1A,HSPA1Lc.1504A>C (p.Thr502Pro)
c.1009A>C (p.Thr337Pro)
c.-14+3753T>G (n.-14+3753T>G)
 gnomAD v4
6g.31817260A>GCA363419381HSPA1A,HSPA1Lc.1504A>G (p.Thr502Ala)
c.1009A>G (p.Thr337Ala)
c.-14+3753T>C (n.-14+3753T>C)
6g.31817260A>TCA363419383HSPA1A,HSPA1Lc.1504A>T (p.Thr502Ser)
c.1009A>T (p.Thr337Ser)
c.-14+3753T>A (n.-14+3753T>A)
 gnomAD v4
6g.31817261C>ACA363419387HSPA1A,HSPA1Lc.1505C>A (p.Thr502Asn)
c.1010C>A (p.Thr337Asn)
c.-14+3752G>T (n.-14+3752G>T)
6g.31817261C>GCA363419400HSPA1A,HSPA1Lc.1505C>G (p.Thr502Ser)
c.1010C>G (p.Thr337Ser)
c.-14+3752G>C (n.-14+3752G>C)
6g.31817261C>TCA363419402HSPA1A,HSPA1Lc.1505C>T (p.Thr502Ile)
c.1010C>T (p.Thr337Ile)
c.-14+3752G>A (n.-14+3752G>A)
 gnomAD v4
6g.31817262C>ACA449806666HSPA1A,HSPA1Lc.1506C>A (p.Thr502=)
c.1011C>A (p.Thr337=)
c.-14+3751G>T (n.-14+3751G>T)
6g.31817262C>GCA449806667HSPA1A,HSPA1Lc.1506C>G (p.Thr502=)
c.1011C>G (p.Thr337=)
c.-14+3751G>C (n.-14+3751G>C)
6g.31817262C>TCA449806668HSPA1A,HSPA1Lc.1506C>T (p.Thr502=)
c.1011C>T (p.Thr337=)
c.-14+3751G>A (n.-14+3751G>A)
6g.31817263A>CCA363419412HSPA1A,HSPA1Lc.1507A>C (p.Ile503Leu)
c.1012A>C (p.Ile338Leu)
c.-14+3750T>G (n.-14+3750T>G)
6g.31817263A>GCA363419417HSPA1A,HSPA1Lc.1507A>G (p.Ile503Val)
c.1012A>G (p.Ile338Val)
c.-14+3750T>C (n.-14+3750T>C)
 gnomAD v4
6g.31817263A>TCA363419418HSPA1A,HSPA1Lc.1507A>T (p.Ile503Phe)
c.1012A>T (p.Ile338Phe)
c.-14+3750T>A (n.-14+3750T>A)
6g.31817264T>ACA363419427HSPA1A,HSPA1Lc.1508T>A (p.Ile503Asn)
c.1013T>A (p.Ile338Asn)
c.-14+3749A>T (n.-14+3749A>T)
6g.31817264T>CCA363419436HSPA1A,HSPA1Lc.1508T>C (p.Ile503Thr)
c.1013T>C (p.Ile338Thr)
c.-14+3749A>G (n.-14+3749A>G)
 gnomAD v4
6g.31817264T>GCA363419439HSPA1A,HSPA1Lc.1508T>G (p.Ile503Ser)
c.1013T>G (p.Ile338Ser)
c.-14+3749A>C (n.-14+3749A>C)
6g.31817265C>ACA449806673HSPA1A,HSPA1Lc.1509C>A (p.Ile503=)
c.1014C>A (p.Ile338=)
c.-14+3748G>T (n.-14+3748G>T)
6g.31817265C=CA1619307636HSPA1A,HSPA1Lc.1509C= (p.Ile503=)
c.1014C= (p.Ile338=)
c.-14+3748G= (n.-14+3748G=)
6g.31817265C>GCA363419441HSPA1A,HSPA1Lc.1509C>G (p.Ile503Met)
c.1014C>G (p.Ile338Met)
c.-14+3748G>C (n.-14+3748G>C)
6g.31817265C>TCA449806674HSPA1A,HSPA1Lc.1509C>T (p.Ile503=)
c.1014C>T (p.Ile338=)
c.-14+3748G>A (n.-14+3748G>A)
 dbSNP gnomAD v4
6g.31817266A>CCA363419448HSPA1A,HSPA1Lc.1510A>C (p.Thr504Pro)
c.1015A>C (p.Thr339Pro)
c.-14+3747T>G (n.-14+3747T>G)
6g.31817266A>GCA363419466HSPA1A,HSPA1Lc.1510A>G (p.Thr504Ala)
c.1015A>G (p.Thr339Ala)
c.-14+3747T>C (n.-14+3747T>C)
6g.31817266A>TCA363419464HSPA1A,HSPA1Lc.1510A>T (p.Thr504Ser)
c.1015A>T (p.Thr339Ser)
c.-14+3747T>A (n.-14+3747T>A)
6g.31817267C>ACA363419470HSPA1A,HSPA1Lc.1511C>A (p.Thr504Asn)
c.1016C>A (p.Thr339Asn)
c.-14+3746G>T (n.-14+3746G>T)
 gnomAD v4
6g.31817267C>GCA363419478HSPA1A,HSPA1Lc.1511C>G (p.Thr504Ser)
c.1016C>G (p.Thr339Ser)
c.-14+3746G>C (n.-14+3746G>C)
6g.31817267C>TCA363419485HSPA1A,HSPA1Lc.1511C>T (p.Thr504Ile)
c.1016C>T (p.Thr339Ile)
c.-14+3746G>A (n.-14+3746G>A)
6g.31817268C>ACA449806677HSPA1A,HSPA1Lc.1512C>A (p.Thr504=)
c.1017C>A (p.Thr339=)
c.-14+3745G>T (n.-14+3745G>T)
6g.31817268C>GCA449806678HSPA1A,HSPA1Lc.1512C>G (p.Thr504=)
c.1017C>G (p.Thr339=)
c.-14+3745G>C (n.-14+3745G>C)
6g.31817268C>TCA449806680HSPA1A,HSPA1Lc.1512C>T (p.Thr504=)
c.1017C>T (p.Thr339=)
c.-14+3745G>A (n.-14+3745G>A)
6g.31817269A>CCA363419496HSPA1A,HSPA1Lc.1513A>C (p.Asn505His)
c.1018A>C (p.Asn340His)
c.-14+3744T>G (n.-14+3744T>G)
 gnomAD v4
6g.31817269A>GCA363419497HSPA1A,HSPA1Lc.1513A>G (p.Asn505Asp)
c.1018A>G (p.Asn340Asp)
c.-14+3744T>C (n.-14+3744T>C)
6g.31817269A>TCA363419502HSPA1A,HSPA1Lc.1513A>T (p.Asn505Tyr)
c.1018A>T (p.Asn340Tyr)
c.-14+3744T>A (n.-14+3744T>A)
6g.31817270A>CCA363419508HSPA1A,HSPA1Lc.1514A>C (p.Asn505Thr)
c.1019A>C (p.Asn340Thr)
c.-14+3743T>G (n.-14+3743T>G)
6g.31817270A>GCA363419518HSPA1A,HSPA1Lc.1514A>G (p.Asn505Ser)
c.1019A>G (p.Asn340Ser)
c.-14+3743T>C (n.-14+3743T>C)
6g.31817270A>TCA363419523HSPA1A,HSPA1Lc.1514A>T (p.Asn505Ile)
c.1019A>T (p.Asn340Ile)
c.-14+3743T>A (n.-14+3743T>A)
6g.31817271C>ACA363419527HSPA1A,HSPA1Lc.1515C>A (p.Asn505Lys)
c.1020C>A (p.Asn340Lys)
c.-14+3742G>T (n.-14+3742G>T)
 gnomAD v4
6g.31817271C=CA1619307637HSPA1A,HSPA1Lc.1515C= (p.Asn505=)
c.1020C= (p.Asn340=)
c.-14+3742G= (n.-14+3742G=)
6g.31817271C>GCA363419538HSPA1A,HSPA1Lc.1515C>G (p.Asn505Lys)
c.1020C>G (p.Asn340Lys)
c.-14+3742G>C (n.-14+3742G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.31817271C>TCA449806687HSPA1A,HSPA1Lc.1515C>T (p.Asn505=)
c.1020C>T (p.Asn340=)
c.-14+3742G>A (n.-14+3742G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31817272G>ACA363419575HSPA1A,HSPA1Lc.1516G>A (p.Asp506Asn)
c.1021G>A (p.Asp341Asn)
c.-14+3741C>T (n.-14+3741C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.31817272G>CCA363419568HSPA1A,HSPA1Lc.1516G>C (p.Asp506His)
c.1021G>C (p.Asp341His)
c.-14+3741C>G (n.-14+3741C>G)
6g.31817272G=CA1619307638HSPA1A,HSPA1Lc.1516G= (p.Asp506=)
c.1021G= (p.Asp341=)
c.-14+3741C= (n.-14+3741C=)
6g.31817272G>TCA363419562HSPA1A,HSPA1Lc.1516G>T (p.Asp506Tyr)
c.1021G>T (p.Asp341Tyr)
c.-14+3741C>A (n.-14+3741C>A)
 gnomAD v4
6g.31817273delCA2678046280HSPA1A,HSPA1Lc.1517del (p.Asp506AlafsTer5)
c.1022del (p.Asp341AlafsTer5)
c.-14+3740del (n.-14+3740del)
 gnomAD v4
6g.31817273A>CCA363419576HSPA1A,HSPA1Lc.1517A>C (p.Asp506Ala)
c.1022A>C (p.Asp341Ala)
c.-14+3740T>G (n.-14+3740T>G)
6g.31817273A>GCA363419577HSPA1A,HSPA1Lc.1517A>G (p.Asp506Gly)
c.1022A>G (p.Asp341Gly)
c.-14+3740T>C (n.-14+3740T>C)
6g.31817273A>TCA363419578HSPA1A,HSPA1Lc.1517A>T (p.Asp506Val)
c.1022A>T (p.Asp341Val)
c.-14+3740T>A (n.-14+3740T>A)
 gnomAD v4
6g.31817274C>ACA363419583HSPA1A,HSPA1Lc.1518C>A (p.Asp506Glu)
c.1023C>A (p.Asp341Glu)
c.-14+3739G>T (n.-14+3739G>T)
6g.31817274C=CA1619307639HSPA1A,HSPA1Lc.1518C= (p.Asp506=)
c.1023C= (p.Asp341=)
c.-14+3739G= (n.-14+3739G=)
6g.31817274C>GCA363419597HSPA1A,HSPA1Lc.1518C>G (p.Asp506Glu)
c.1023C>G (p.Asp341Glu)
c.-14+3739G>C (n.-14+3739G>C)
 dbSNP
6g.31817274C>TCA449806693HSPA1A,HSPA1Lc.1518C>T (p.Asp506=)
c.1023C>T (p.Asp341=)
c.-14+3739G>A (n.-14+3739G>A)
 gnomAD v4
6g.31817275A>CCA363419603HSPA1A,HSPA1Lc.1519A>C (p.Lys507Gln)
c.1024A>C (p.Lys342Gln)
c.-14+3738T>G (n.-14+3738T>G)
6g.31817275A>GCA363419607HSPA1A,HSPA1Lc.1519A>G (p.Lys507Glu)
c.1024A>G (p.Lys342Glu)
c.-14+3738T>C (n.-14+3738T>C)
6g.31817275A>TCA363419608HSPA1A,HSPA1Lc.1519A>T (p.Lys507Ter)
c.1024A>T (p.Lys342Ter)
c.-14+3738T>A (n.-14+3738T>A)
6g.31817276A>CCA363419612HSPA1A,HSPA1Lc.1520A>C (p.Lys507Thr)
c.1025A>C (p.Lys342Thr)
c.-14+3737T>G (n.-14+3737T>G)
6g.31817276A>GCA363419622HSPA1A,HSPA1Lc.1520A>G (p.Lys507Arg)
c.1025A>G (p.Lys342Arg)
c.-14+3737T>C (n.-14+3737T>C)
6g.31817276A>TCA363419626HSPA1A,HSPA1Lc.1520A>T (p.Lys507Met)
c.1025A>T (p.Lys342Met)
c.-14+3737T>A (n.-14+3737T>A)
6g.31817277G>ACA449806696HSPA1A,HSPA1Lc.1521G>A (p.Lys507=)
c.1026G>A (p.Lys342=)
c.-14+3736C>T (n.-14+3736C>T)
 gnomAD v4
6g.31817277G>CCA363419637HSPA1A,HSPA1Lc.1521G>C (p.Lys507Asn)
c.1026G>C (p.Lys342Asn)
c.-14+3736C>G (n.-14+3736C>G)
 gnomAD v4
6g.31817277G>TCA363419651HSPA1A,HSPA1Lc.1521G>T (p.Lys507Asn)
c.1026G>T (p.Lys342Asn)
c.-14+3736C>A (n.-14+3736C>A)
 gnomAD v4
6g.31817278G>ACA363419658HSPA1A,HSPA1Lc.1522G>A (p.Gly508Ser)
c.1027G>A (p.Gly343Ser)
c.-14+3735C>T (n.-14+3735C>T)
 gnomAD v4
6g.31817278G>CCA363419659HSPA1A,HSPA1Lc.1522G>C (p.Gly508Arg)
c.1027G>C (p.Gly343Arg)
c.-14+3735C>G (n.-14+3735C>G)
6g.31817278G>TCA363419657HSPA1A,HSPA1Lc.1522G>T (p.Gly508Cys)
c.1027G>T (p.Gly343Cys)
c.-14+3735C>A (n.-14+3735C>A)
6g.31817279G>ACA363419675HSPA1A,HSPA1Lc.1523G>A (p.Gly508Asp)
c.1028G>A (p.Gly343Asp)
c.-14+3734C>T (n.-14+3734C>T)
6g.31817279G>CCA363419664HSPA1A,HSPA1Lc.1523G>C (p.Gly508Ala)
c.1028G>C (p.Gly343Ala)
c.-14+3734C>G (n.-14+3734C>G)
6g.31817279G>TCA363419671HSPA1A,HSPA1Lc.1523G>T (p.Gly508Val)
c.1028G>T (p.Gly343Val)
c.-14+3734C>A (n.-14+3734C>A)
6g.31817280C>ACA449806704HSPA1A,HSPA1Lc.1524C>A (p.Gly508=)
c.1029C>A (p.Gly343=)
c.-14+3733G>T (n.-14+3733G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817280C=CA1619307640HSPA1A,HSPA1Lc.1524C= (p.Gly508=)
c.1029C= (p.Gly343=)
c.-14+3733G= (n.-14+3733G=)
6g.31817280C>GCA449806703HSPA1A,HSPA1Lc.1524C>G (p.Gly508=)
c.1029C>G (p.Gly343=)
c.-14+3733G>C (n.-14+3733G>C)
6g.31817280C>TCA449806702HSPA1A,HSPA1Lc.1524C>T (p.Gly508=)
c.1029C>T (p.Gly343=)
c.-14+3733G>A (n.-14+3733G>A)
6g.31817281C>ACA363419677HSPA1A,HSPA1Lc.1525C>A (p.Arg509Ser)
c.1030C>A (p.Arg344Ser)
c.-14+3732G>T (n.-14+3732G>T)
6g.31817281C=CA1619307641HSPA1A,HSPA1Lc.1525C= (p.Arg509=)
c.1030C= (p.Arg344=)
c.-14+3732G= (n.-14+3732G=)
6g.31817281C>GCA363419680HSPA1A,HSPA1Lc.1525C>G (p.Arg509Gly)
c.1030C>G (p.Arg344Gly)
c.-14+3732G>C (n.-14+3732G>C)
6g.31817281C>TCA363419686HSPA1A,HSPA1Lc.1525C>T (p.Arg509Cys)
c.1030C>T (p.Arg344Cys)
c.-14+3732G>A (n.-14+3732G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817282G>ACA363419714HSPA1A,HSPA1Lc.1526G>A (p.Arg509His)
c.1031G>A (p.Arg344His)
c.-14+3731C>T (n.-14+3731C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817282G>CCA363419720HSPA1A,HSPA1Lc.1526G>C (p.Arg509Pro)
c.1031G>C (p.Arg344Pro)
c.-14+3731C>G (n.-14+3731C>G)
6g.31817282G=CA1619307642HSPA1A,HSPA1Lc.1526G= (p.Arg509=)
c.1031G= (p.Arg344=)
c.-14+3731C= (n.-14+3731C=)
6g.31817282G>TCA363419725HSPA1A,HSPA1Lc.1526G>T (p.Arg509Leu)
c.1031G>T (p.Arg344Leu)
c.-14+3731C>A (n.-14+3731C>A)
6g.31817283C>ACA449806705HSPA1A,HSPA1Lc.1527C>A (p.Arg509=)
c.1032C>A (p.Arg344=)
c.-14+3730G>T (n.-14+3730G>T)
6g.31817283C>GCA449806706HSPA1A,HSPA1Lc.1527C>G (p.Arg509=)
c.1032C>G (p.Arg344=)
c.-14+3730G>C (n.-14+3730G>C)
6g.31817283C>TCA449806707HSPA1A,HSPA1Lc.1527C>T (p.Arg509=)
c.1032C>T (p.Arg344=)
c.-14+3730G>A (n.-14+3730G>A)
 gnomAD v4
6g.31817284C>ACA363419731HSPA1A,HSPA1Lc.1528C>A (p.Leu510Met)
c.1033C>A (p.Leu345Met)
c.-14+3729G>T (n.-14+3729G>T)
6g.31817284C=CA1619307643HSPA1A,HSPA1Lc.1528C= (p.Leu510=)
c.1033C= (p.Leu345=)
c.-14+3729G= (n.-14+3729G=)
6g.31817284C>GCA363419735HSPA1A,HSPA1Lc.1528C>G (p.Leu510Val)
c.1033C>G (p.Leu345Val)
c.-14+3729G>C (n.-14+3729G>C)
6g.31817284C>TCA449806710HSPA1A,HSPA1Lc.1528C>T (p.Leu510=)
c.1033C>T (p.Leu345=)
c.-14+3729G>A (n.-14+3729G>A)
 dbSNP
6g.31817285T>ACA363419736HSPA1A,HSPA1Lc.1529T>A (p.Leu510Gln)
c.1034T>A (p.Leu345Gln)
c.-14+3728A>T (n.-14+3728A>T)
6g.31817285T>CCA363419737HSPA1A,HSPA1Lc.1529T>C (p.Leu510Pro)
c.1034T>C (p.Leu345Pro)
c.-14+3728A>G (n.-14+3728A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31817285T>GCA363419742HSPA1A,HSPA1Lc.1529T>G (p.Leu510Arg)
c.1034T>G (p.Leu345Arg)
c.-14+3728A>C (n.-14+3728A>C)
6g.31817285T=CA1619307644HSPA1A,HSPA1Lc.1529T= (p.Leu510=)
c.1034T= (p.Leu345=)
c.-14+3728A= (n.-14+3728A=)
6g.31817286G>ACA449806713HSPA1A,HSPA1Lc.1530G>A (p.Leu510=)
c.1035G>A (p.Leu345=)
c.-14+3727C>T (n.-14+3727C>T)
 gnomAD v4
6g.31817286G>CCA449806714HSPA1A,HSPA1Lc.1530G>C (p.Leu510=)
c.1035G>C (p.Leu345=)
c.-14+3727C>G (n.-14+3727C>G)
6g.31817286G>TCA449806715HSPA1A,HSPA1Lc.1530G>T (p.Leu510=)
c.1035G>T (p.Leu345=)
c.-14+3727C>A (n.-14+3727C>A)
 gnomAD v4
6g.31817287A>CCA363419748HSPA1A,HSPA1Lc.1531A>C (p.Ser511Arg)
c.1036A>C (p.Ser346Arg)
c.-14+3726T>G (n.-14+3726T>G)
6g.31817287A>GCA363419752HSPA1A,HSPA1Lc.1531A>G (p.Ser511Gly)
c.1036A>G (p.Ser346Gly)
c.-14+3726T>C (n.-14+3726T>C)
6g.31817287A>TCA363419747HSPA1A,HSPA1Lc.1531A>T (p.Ser511Cys)
c.1036A>T (p.Ser346Cys)
c.-14+3726T>A (n.-14+3726T>A)
6g.31817288G>ACA363419760HSPA1A,HSPA1Lc.1532G>A (p.Ser511Asn)
c.1037G>A (p.Ser346Asn)
c.-14+3725C>T (n.-14+3725C>T)
 gnomAD v4
6g.31817288G>CCA363419762HSPA1A,HSPA1Lc.1532G>C (p.Ser511Thr)
c.1037G>C (p.Ser346Thr)
c.-14+3725C>G (n.-14+3725C>G)
6g.31817288G>TCA363419763HSPA1A,HSPA1Lc.1532G>T (p.Ser511Ile)
c.1037G>T (p.Ser346Ile)
c.-14+3725C>A (n.-14+3725C>A)
6g.31817289C>ACA363419764HSPA1A,HSPA1Lc.1533C>A (p.Ser511Arg)
c.1038C>A (p.Ser346Arg)
c.-14+3724G>T (n.-14+3724G>T)
 gnomAD v4
6g.31817289C>GCA363419765HSPA1A,HSPA1Lc.1533C>G (p.Ser511Arg)
c.1038C>G (p.Ser346Arg)
c.-14+3724G>C (n.-14+3724G>C)
6g.31817289C>TCA449806721HSPA1A,HSPA1Lc.1533C>T (p.Ser511=)
c.1038C>T (p.Ser346=)
c.-14+3724G>A (n.-14+3724G>A)
6g.31817290A=CA1619307645HSPA1A,HSPA1Lc.1534A= (p.Lys512=)
c.1039A= (p.Lys347=)
c.-14+3723T= (n.-14+3723T=)
6g.31817290A>CCA363419802HSPA1A,HSPA1Lc.1534A>C (p.Lys512Gln)
c.1039A>C (p.Lys347Gln)
c.-14+3723T>G (n.-14+3723T>G)
6g.31817290A>GCA363419775HSPA1A,HSPA1Lc.1534A>G (p.Lys512Glu)
c.1039A>G (p.Lys347Glu)
c.-14+3723T>C (n.-14+3723T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.31817290A>TCA363419783HSPA1A,HSPA1Lc.1534A>T (p.Lys512Ter)
c.1039A>T (p.Lys347Ter)
c.-14+3723T>A (n.-14+3723T>A)
6g.31817290_31817293delinsAAGGCA1619307646HSPA1A,HSPA1Lc.1534_1537delinsAAGG (p.Lys512=)
c.1039_1042delinsAAGG (p.Lys347=)
c.-14+3720_-14+3723delinsCCTT (n.-14+3720_-14+3723delinsCCTT)
6g.31817291A>CCA363419811HSPA1A,HSPA1Lc.1535A>C (p.Lys512Thr)
c.1040A>C (p.Lys347Thr)
c.-14+3722T>G (n.-14+3722T>G)
6g.31817291A>GCA363419819HSPA1A,HSPA1Lc.1535A>G (p.Lys512Arg)
c.1040A>G (p.Lys347Arg)
c.-14+3722T>C (n.-14+3722T>C)
6g.31817291A>TCA363419849HSPA1A,HSPA1Lc.1535A>T (p.Lys512Met)
c.1040A>T (p.Lys347Met)
c.-14+3722T>A (n.-14+3722T>A)
6g.31817296_31817298delCA823903725HSPA1A,HSPA1Lc.1540_1542del (p.Glu514del)
c.1045_1047del (p.Glu349del)
c.-14+3720_-14+3722del (n.-14+3720_-14+3722del)
 dbSNP gnomAD v4
6g.31817292G>ACA449806728HSPA1A,HSPA1Lc.1536G>A (p.Lys512=)
c.1041G>A (p.Lys347=)
c.-14+3721C>T (n.-14+3721C>T)
 gnomAD v4
6g.31817292G>CCA363419855HSPA1A,HSPA1Lc.1536G>C (p.Lys512Asn)
c.1041G>C (p.Lys347Asn)
c.-14+3721C>G (n.-14+3721C>G)
6g.31817292G>TCA363419858HSPA1A,HSPA1Lc.1536G>T (p.Lys512Asn)
c.1041G>T (p.Lys347Asn)
c.-14+3721C>A (n.-14+3721C>A)
6g.31817293G>ACA363419878HSPA1A,HSPA1Lc.1537G>A (p.Glu513Lys)
c.1042G>A (p.Glu348Lys)
c.-14+3720C>T (n.-14+3720C>T)
6g.31817293G>CCA363419874HSPA1A,HSPA1Lc.1537G>C (p.Glu513Gln)
c.1042G>C (p.Glu348Gln)
c.-14+3720C>G (n.-14+3720C>G)
6g.31817293G>TCA363419872HSPA1A,HSPA1Lc.1537G>T (p.Glu513Ter)
c.1042G>T (p.Glu348Ter)
c.-14+3720C>A (n.-14+3720C>A)
6g.31817294A=CA1619307647HSPA1A,HSPA1Lc.1538A= (p.Glu513=)
c.1043A= (p.Glu348=)
c.-14+3719T= (n.-14+3719T=)
6g.31817294A>CCA363419881HSPA1A,HSPA1Lc.1538A>C (p.Glu513Ala)
c.1043A>C (p.Glu348Ala)
c.-14+3719T>G (n.-14+3719T>G)
 gnomAD v3 gnomAD v4
6g.31817294A>GCA363419883HSPA1A,HSPA1Lc.1538A>G (p.Glu513Gly)
c.1043A>G (p.Glu348Gly)
c.-14+3719T>C (n.-14+3719T>C)
6g.31817294A>TCA363419894HSPA1A,HSPA1Lc.1538A>T (p.Glu513Val)
c.1043A>T (p.Glu348Val)
c.-14+3719T>A (n.-14+3719T>A)
 gnomAD v4
6g.31817295G>ACA449806737HSPA1A,HSPA1Lc.1539G>A (p.Glu513=)
c.1044G>A (p.Glu348=)
c.-14+3718C>T (n.-14+3718C>T)
6g.31817295G>CCA363419897HSPA1A,HSPA1Lc.1539G>C (p.Glu513Asp)
c.1044G>C (p.Glu348Asp)
c.-14+3718C>G (n.-14+3718C>G)
6g.31817295G>TCA363419898HSPA1A,HSPA1Lc.1539G>T (p.Glu513Asp)
c.1044G>T (p.Glu348Asp)
c.-14+3718C>A (n.-14+3718C>A)
6g.31817296dupCA1087483870HSPA1A,HSPA1Lc.1540dup (p.Glu514GlyfsTer?)
c.1045dup (p.Glu349GlyfsTer?)
c.-14+3718dup (n.-14+3718dup)
 dbSNP gnomAD v3 gnomAD v4
6g.31817296G>ACA363419926HSPA1A,HSPA1Lc.1540G>A (p.Glu514Lys)
c.1045G>A (p.Glu349Lys)
c.-14+3717C>T (n.-14+3717C>T)
 gnomAD v4
6g.31817296G>CCA363419930HSPA1A,HSPA1Lc.1540G>C (p.Glu514Gln)
c.1045G>C (p.Glu349Gln)
c.-14+3717C>G (n.-14+3717C>G)
6g.31817296G>TCA363419934HSPA1A,HSPA1Lc.1540G>T (p.Glu514Ter)
c.1045G>T (p.Glu349Ter)
c.-14+3717C>A (n.-14+3717C>A)
6g.31817297A>CCA363419949HSPA1A,HSPA1Lc.1541A>C (p.Glu514Ala)
c.1046A>C (p.Glu349Ala)
c.-14+3716T>G (n.-14+3716T>G)
6g.31817297A>GCA363419952HSPA1A,HSPA1Lc.1541A>G (p.Glu514Gly)
c.1046A>G (p.Glu349Gly)
c.-14+3716T>C (n.-14+3716T>C)
 gnomAD v4
6g.31817297A>TCA363419953HSPA1A,HSPA1Lc.1541A>T (p.Glu514Val)
c.1046A>T (p.Glu349Val)
c.-14+3716T>A (n.-14+3716T>A)
6g.31817298G>ACA449806740HSPA1A,HSPA1Lc.1542G>A (p.Glu514=)
c.1047G>A (p.Glu349=)
c.-14+3715C>T (n.-14+3715C>T)
 gnomAD v4
6g.31817298G>CCA363419954HSPA1A,HSPA1Lc.1542G>C (p.Glu514Asp)
c.1047G>C (p.Glu349Asp)
c.-14+3715C>G (n.-14+3715C>G)
6g.31817298G>TCA363419957HSPA1A,HSPA1Lc.1542G>T (p.Glu514Asp)
c.1047G>T (p.Glu349Asp)
c.-14+3715C>A (n.-14+3715C>A)
6g.31817299A>CCA363419987HSPA1A,HSPA1Lc.1543A>C (p.Ile515Leu)
c.1048A>C (p.Ile350Leu)
c.-14+3714T>G (n.-14+3714T>G)
 gnomAD v4
6g.31817299A>GCA363419998HSPA1A,HSPA1Lc.1543A>G (p.Ile515Val)
c.1048A>G (p.Ile350Val)
c.-14+3714T>C (n.-14+3714T>C)
6g.31817299A>TCA363419971HSPA1A,HSPA1Lc.1543A>T (p.Ile515Phe)
c.1048A>T (p.Ile350Phe)
c.-14+3714T>A (n.-14+3714T>A)
6g.31817300T>ACA363420006HSPA1A,HSPA1Lc.1544T>A (p.Ile515Asn)
c.1049T>A (p.Ile350Asn)
c.-14+3713A>T (n.-14+3713A>T)
6g.31817300T>CCA363420017HSPA1A,HSPA1Lc.1544T>C (p.Ile515Thr)
c.1049T>C (p.Ile350Thr)
c.-14+3713A>G (n.-14+3713A>G)
6g.31817300T>GCA363420026HSPA1A,HSPA1Lc.1544T>G (p.Ile515Ser)
c.1049T>G (p.Ile350Ser)
c.-14+3713A>C (n.-14+3713A>C)
 gnomAD v3 gnomAD v4
6g.31817301C>ACA3724260HSPA1A,HSPA1Lc.1545C>A (p.Ile515=)
c.1050C>A (p.Ile350=)
c.-14+3712G>T (n.-14+3712G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31817301C=CA1619307648HSPA1A,HSPA1Lc.1545C= (p.Ile515=)
c.1050C= (p.Ile350=)
c.-14+3712G= (n.-14+3712G=)
6g.31817301C>GCA3724261HSPA1A,HSPA1Lc.1545C>G (p.Ile515Met)
c.1050C>G (p.Ile350Met)
c.-14+3712G>C (n.-14+3712G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31817301C>TCA449806747HSPA1A,HSPA1Lc.1545C>T (p.Ile515=)
c.1050C>T (p.Ile350=)
c.-14+3712G>A (n.-14+3712G>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched