Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549611T>ACA341377543DPYDc.1473A>T (p.Glu491Asp)
c.1362A>T (p.Glu454Asp)
c.978A>T (p.Glu326Asp)
1g.97549611T>CCA419145255DPYDc.1473A>G (p.Glu491=)
c.1362A>G (p.Glu454=)
c.978A>G (p.Glu326=)
 dbSNP
1g.97549611T>GCA27517953DPYDc.1473A>C (p.Glu491Asp)
c.1362A>C (p.Glu454Asp)
c.978A>C (p.Glu326Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549611T=CA1182917405DPYDc.1473A= (p.Glu491=)
c.1362A= (p.Glu454=)
c.978A= (p.Glu326=)
1g.97549612T>ACA341377544DPYDc.1472A>T (p.Glu491Val)
c.1361A>T (p.Glu454Val)
c.977A>T (p.Glu326Val)
 dbSNP gnomAD v3 gnomAD v4
1g.97549612T>CCA341377545DPYDc.1472A>G (p.Glu491Gly)
c.1361A>G (p.Glu454Gly)
c.977A>G (p.Glu326Gly)
 gnomAD v4
1g.97549612T>GCA341377547DPYDc.1472A>C (p.Glu491Ala)
c.1361A>C (p.Glu454Ala)
c.977A>C (p.Glu326Ala)
1g.97549612T=CA1182917406DPYDc.1472A= (p.Glu491=)
c.1361A= (p.Glu454=)
c.977A= (p.Glu326=)
1g.97549613C>ACA341377550DPYDc.1471G>T (p.Glu491Ter)
c.1360G>T (p.Glu454Ter)
c.976G>T (p.Glu326Ter)
1g.97549613C>GCA341377551DPYDc.1471G>C (p.Glu491Gln)
c.1360G>C (p.Glu454Gln)
c.976G>C (p.Glu326Gln)
1g.97549613C>TCA341377553DPYDc.1471G>A (p.Glu491Lys)
c.1360G>A (p.Glu454Lys)
c.976G>A (p.Glu326Lys)
 gnomAD v4
1g.97549614C>ACA419145258DPYDc.1470G>T (p.Val490=)
c.1359G>T (p.Val453=)
c.975G>T (p.Val325=)
1g.97549614C=CA1182917407DPYDc.1470G= (p.Val490=)
c.1359G= (p.Val453=)
c.975G= (p.Val325=)
1g.97549614C>GCA419145260DPYDc.1470G>C (p.Val490=)
c.1359G>C (p.Val453=)
c.975G>C (p.Val325=)
1g.97549614C>TCA419145261DPYDc.1470G>A (p.Val490=)
c.1359G>A (p.Val453=)
c.975G>A (p.Val325=)
 dbSNP
1g.97549615A=CA1182917408DPYDc.1469T= (p.Val490=)
c.1358T= (p.Val453=)
c.974T= (p.Val325=)
1g.97549615A>CCA341377562DPYDc.1469T>G (p.Val490Gly)
c.1358T>G (p.Val453Gly)
c.974T>G (p.Val325Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549615A>GCA341377560DPYDc.1469T>C (p.Val490Ala)
c.1358T>C (p.Val453Ala)
c.974T>C (p.Val325Ala)
1g.97549615A>TCA341377558DPYDc.1469T>A (p.Val490Glu)
c.1358T>A (p.Val453Glu)
c.974T>A (p.Val325Glu)
1g.97549616C>ACA341377563DPYDc.1468G>T (p.Val490Leu)
c.1357G>T (p.Val453Leu)
c.973G>T (p.Val325Leu)
1g.97549616C>GCA341377565DPYDc.1468G>C (p.Val490Leu)
c.1357G>C (p.Val453Leu)
c.973G>C (p.Val325Leu)
1g.97549616C>TCA341377567DPYDc.1468G>A (p.Val490Met)
c.1357G>A (p.Val453Met)
c.973G>A (p.Val325Met)
1g.97549617T>ACA419145263DPYDc.1467A>T (p.Thr489=)
c.1356A>T (p.Thr452=)
c.972A>T (p.Thr324=)
1g.97549617T>CCA419145264DPYDc.1467A>G (p.Thr489=)
c.1356A>G (p.Thr452=)
c.972A>G (p.Thr324=)
1g.97549617T>GCA419145262DPYDc.1467A>C (p.Thr489=)
c.1356A>C (p.Thr452=)
c.972A>C (p.Thr324=)
1g.97549618G>ACA341377569DPYDc.1466C>T (p.Thr489Ile)
c.1355C>T (p.Thr452Ile)
c.971C>T (p.Thr324Ile)
1g.97549618G>CCA341377571DPYDc.1466C>G (p.Thr489Arg)
c.1355C>G (p.Thr452Arg)
c.971C>G (p.Thr324Arg)
1g.97549618G>TCA341377574DPYDc.1466C>A (p.Thr489Lys)
c.1355C>A (p.Thr452Lys)
c.971C>A (p.Thr324Lys)
1g.97549619T>ACA341377576DPYDc.1465A>T (p.Thr489Ser)
c.1354A>T (p.Thr452Ser)
c.970A>T (p.Thr324Ser)
1g.97549619T>CCA963341DPYDc.1465A>G (p.Thr489Ala)
c.1354A>G (p.Thr452Ala)
c.970A>G (p.Thr324Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549619T>GCA341377579DPYDc.1465A>C (p.Thr489Pro)
c.1354A>C (p.Thr452Pro)
c.970A>C (p.Thr324Pro)
1g.97549619T=CA1182917409DPYDc.1465A= (p.Thr489=)
c.1354A= (p.Thr452=)
c.970A= (p.Thr324=)
1g.97549620A=CA1182917410DPYDc.1464T= (p.Thr488=)
c.1353T= (p.Thr451=)
c.969T= (p.Thr323=)
1g.97549620A>CCA419145266DPYDc.1464T>G (p.Thr488=)
c.1353T>G (p.Thr451=)
c.969T>G (p.Thr323=)
1g.97549620A>GCA419145268DPYDc.1464T>C (p.Thr488=)
c.1353T>C (p.Thr451=)
c.969T>C (p.Thr323=)
1g.97549620A>TCA419145270DPYDc.1464T>A (p.Thr488=)
c.1353T>A (p.Thr451=)
c.969T>A (p.Thr323=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549621delCA2646706232DPYDc.1463del (p.Thr488IlefsTer6)
c.1352del (p.Thr451IlefsTer6)
c.968del (p.Thr323IlefsTer6)
 gnomAD v4
1g.97549621G>ACA341377581DPYDc.1463C>T (p.Thr488Ile)
c.1352C>T (p.Thr451Ile)
c.968C>T (p.Thr323Ile)
 dbSNP
1g.97549621G>CCA341377583DPYDc.1463C>G (p.Thr488Ser)
c.1352C>G (p.Thr451Ser)
c.968C>G (p.Thr323Ser)
1g.97549621G=CA1182917411DPYDc.1463C= (p.Thr488=)
c.1352C= (p.Thr451=)
c.968C= (p.Thr323=)
1g.97549621G>TCA341377585DPYDc.1463C>A (p.Thr488Asn)
c.1352C>A (p.Thr451Asn)
c.968C>A (p.Thr323Asn)
1g.97549622T>ACA341377590DPYDc.1462A>T (p.Thr488Ser)
c.1351A>T (p.Thr451Ser)
c.967A>T (p.Thr323Ser)
1g.97549622T>CCA341377591DPYDc.1462A>G (p.Thr488Ala)
c.1351A>G (p.Thr451Ala)
c.967A>G (p.Thr323Ala)
 dbSNP
1g.97549622T>GCA341377588DPYDc.1462A>C (p.Thr488Pro)
c.1351A>C (p.Thr451Pro)
c.967A>C (p.Thr323Pro)
1g.97549622T=CA1182917412DPYDc.1462A= (p.Thr488=)
c.1351A= (p.Thr451=)
c.967A= (p.Thr323=)
1g.97549623G>ACA27517981DPYDc.1461C>T (p.Asn487=)
c.1350C>T (p.Asn450=)
c.966C>T (p.Asn322=)
 dbSNP
1g.97549623G>CCA341377594DPYDc.1461C>G (p.Asn487Lys)
c.1350C>G (p.Asn450Lys)
c.966C>G (p.Asn322Lys)
1g.97549623G=CA1182917413DPYDc.1461C= (p.Asn487=)
c.1350C= (p.Asn450=)
c.966C= (p.Asn322=)
1g.97549623G>TCA341377596DPYDc.1461C>A (p.Asn487Lys)
c.1350C>A (p.Asn450Lys)
c.966C>A (p.Asn322Lys)
1g.97549624T>ACA341377598DPYDc.1460A>T (p.Asn487Ile)
c.1349A>T (p.Asn450Ile)
c.965A>T (p.Asn322Ile)

Number of alleles fetched