Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51138969_51138971delCA2633181090SALL1c.3254_3256del (p.Ile1085del)
c.2963_2965del (p.Ile988del)
c.77-1416_77-1414del (n.77-1416_77-1414del)
gnomAD v4
16g.51138972_51138978delCA2695223340SALL1c.3249_3255del (p.Leu1084ArgfsTer?)
c.2958_2964del (p.Leu987ArgfsTer?)
c.77-1421_77-1415del (n.77-1421_77-1415del)
16g.51138968A>CCA395881109SALL1c.3254T>G (p.Ile1085Ser)
c.2963T>G (p.Ile988Ser)
c.77-1416T>G (n.77-1416T>G)
16g.51138968A>GCA395881107SALL1c.3254T>C (p.Ile1085Thr)
c.2963T>C (p.Ile988Thr)
c.77-1416T>C (n.77-1416T>C)
16g.51138968A>TCA395881102SALL1c.3254T>A (p.Ile1085Asn)
c.2963T>A (p.Ile988Asn)
c.77-1416T>A (n.77-1416T>A)
16g.51138969T>ACA395881111SALL1c.3253A>T (p.Ile1085Phe)
c.2962A>T (p.Ile988Phe)
c.77-1417A>T (n.77-1417A>T)
gnomAD v4
16g.51138969T>CCA395881121SALL1c.3253A>G (p.Ile1085Val)
c.2962A>G (p.Ile988Val)
c.77-1417A>G (n.77-1417A>G)
gnomAD v4
16g.51138969T>GCA395881125SALL1c.3253A>C (p.Ile1085Leu)
c.2962A>C (p.Ile988Leu)
c.77-1417A>C (n.77-1417A>C)
16g.51138970G>ACA495779944SALL1c.3252C>T (p.Leu1084=)
c.2961C>T (p.Leu987=)
c.77-1418C>T (n.77-1418C>T)
16g.51138970G>CCA495779945SALL1c.3252C>G (p.Leu1084=)
c.2961C>G (p.Leu987=)
c.77-1418C>G (n.77-1418C>G)
16g.51138970G>TCA495779947SALL1c.3252C>A (p.Leu1084=)
c.2961C>A (p.Leu987=)
c.77-1418C>A (n.77-1418C>A)
16g.51138971A>CCA395881127SALL1c.3251T>G (p.Leu1084Arg)
c.2960T>G (p.Leu987Arg)
c.77-1419T>G (n.77-1419T>G)
16g.51138971A>GCA395881130SALL1c.3251T>C (p.Leu1084Pro)
c.2960T>C (p.Leu987Pro)
c.77-1419T>C (n.77-1419T>C)
16g.51138971A>TCA395881132SALL1c.3251T>A (p.Leu1084His)
c.2960T>A (p.Leu987His)
c.77-1419T>A (n.77-1419T>A)
16g.51138972G>ACA395881135SALL1c.3250C>T (p.Leu1084Phe)
c.2959C>T (p.Leu987Phe)
c.77-1420C>T (n.77-1420C>T)
gnomAD v4
16g.51138972G>CCA395881138SALL1c.3250C>G (p.Leu1084Val)
c.2959C>G (p.Leu987Val)
c.77-1420C>G (n.77-1420C>G)
gnomAD v4
16g.51138972G>TCA395881141SALL1c.3250C>A (p.Leu1084Ile)
c.2959C>A (p.Leu987Ile)
c.77-1420C>A (n.77-1420C>A)
16g.51138973A>CCA495779948SALL1c.3249T>G (p.Ser1083=)
c.2958T>G (p.Ser986=)
c.77-1421T>G (n.77-1421T>G)
16g.51138973A>GCA495779949SALL1c.3249T>C (p.Ser1083=)
c.2958T>C (p.Ser986=)
c.77-1421T>C (n.77-1421T>C)
16g.51138973A>TCA495779950SALL1c.3249T>A (p.Ser1083=)
c.2958T>A (p.Ser986=)
c.77-1421T>A (n.77-1421T>A)
16g.51138974G>ACA395881143SALL1c.3248C>T (p.Ser1083Phe)
c.2957C>T (p.Ser986Phe)
c.77-1422C>T (n.77-1422C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51138974G>CCA395881146SALL1c.3248C>G (p.Ser1083Cys)
c.2957C>G (p.Ser986Cys)
c.77-1422C>G (n.77-1422C>G)
16g.51138974G=CA2222017125SALL1c.3248C= (p.Ser1083=)
c.2957C= (p.Ser986=)
c.77-1422C= (n.77-1422C=)
16g.51138974G>TCA395881148SALL1c.3248C>A (p.Ser1083Tyr)
c.2957C>A (p.Ser986Tyr)
c.77-1422C>A (n.77-1422C>A)
16g.51138975A=CA2222017130SALL1c.3247T= (p.Ser1083=)
c.2956T= (p.Ser986=)
c.77-1423T= (n.77-1423T=)
16g.51138975A>CCA395881158SALL1c.3247T>G (p.Ser1083Ala)
c.2956T>G (p.Ser986Ala)
c.77-1423T>G (n.77-1423T>G)
16g.51138975A>GCA395881152SALL1c.3247T>C (p.Ser1083Pro)
c.2956T>C (p.Ser986Pro)
c.77-1423T>C (n.77-1423T>C)
16g.51138975A>TCA395881150SALL1c.3247T>A (p.Ser1083Thr)
c.2956T>A (p.Ser986Thr)
c.77-1423T>A (n.77-1423T>A)
dbSNP
16g.51138976T>ACA495779954SALL1c.3246A>T (p.Ser1082=)
c.2955A>T (p.Ser985=)
c.77-1424A>T (n.77-1424A>T)
16g.51138976T>CCA495779955SALL1c.3246A>G (p.Ser1082=)
c.2955A>G (p.Ser985=)
c.77-1424A>G (n.77-1424A>G)
16g.51138976T>GCA495779956SALL1c.3246A>C (p.Ser1082=)
c.2955A>C (p.Ser985=)
c.77-1424A>C (n.77-1424A>C)
16g.51138977G>ACA8052967SALL1c.3245C>T (p.Ser1082Leu)
c.2954C>T (p.Ser985Leu)
c.77-1425C>T (n.77-1425C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51138977G>CCA395881162SALL1c.3245C>G (p.Ser1082Ter)
c.2954C>G (p.Ser985Ter)
c.77-1425C>G (n.77-1425C>G)
16g.51138977G=CA2222017133SALL1c.3245C= (p.Ser1082=)
c.2954C= (p.Ser985=)
c.77-1425C= (n.77-1425C=)
16g.51138977G>TCA395881165SALL1c.3245C>A (p.Ser1082Ter)
c.2954C>A (p.Ser985Ter)
c.77-1425C>A (n.77-1425C>A)
16g.51138977_51138980delinsGACACA2222017136SALL1c.3242_3245delinsTGTC (p.Leu1081=)
c.2951_2954delinsTGTC (p.Leu984=)
c.77-1428_77-1425delinsTGTC (n.77-1428_77-1425delinsTGTC)
16g.51138978A>CCA395881167SALL1c.3244T>G (p.Ser1082Ala)
c.2953T>G (p.Ser985Ala)
c.77-1426T>G (n.77-1426T>G)
16g.51138978A>GCA395881168SALL1c.3244T>C (p.Ser1082Pro)
c.2953T>C (p.Ser985Pro)
c.77-1426T>C (n.77-1426T>C)
16g.51138978A>TCA395881170SALL1c.3244T>A (p.Ser1082Thr)
c.2953T>A (p.Ser985Thr)
c.77-1426T>A (n.77-1426T>A)
16g.51138980_51138982delCA622654493SALL1c.3242_3244del (p.Leu1081del)
c.2951_2953del (p.Leu984del)
c.77-1428_77-1426del (n.77-1428_77-1426del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51138979C>ACA395881180SALL1c.3243G>T (p.Leu1081Phe)
c.2952G>T (p.Leu984Phe)
c.77-1427G>T (n.77-1427G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51138979C=CA2222017144SALL1c.3243G= (p.Leu1081=)
c.2952G= (p.Leu984=)
c.77-1427G= (n.77-1427G=)
16g.51138979C>GCA395881179SALL1c.3243G>C (p.Leu1081Phe)
c.2952G>C (p.Leu984Phe)
c.77-1427G>C (n.77-1427G>C)
16g.51138979C>TCA495779958SALL1c.3243G>A (p.Leu1081=)
c.2952G>A (p.Leu984=)
c.77-1427G>A (n.77-1427G>A)
16g.51138980A=CA2222017150SALL1c.3242T= (p.Leu1081=)
c.2951T= (p.Leu984=)
c.77-1428T= (n.77-1428T=)
16g.51138980A>CCA395881182SALL1c.3242T>G (p.Leu1081Trp)
c.2951T>G (p.Leu984Trp)
c.77-1428T>G (n.77-1428T>G)
16g.51138980A>GCA395881184SALL1c.3242T>C (p.Leu1081Ser)
c.2951T>C (p.Leu984Ser)
c.77-1428T>C (n.77-1428T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.51138980A>TCA395881186SALL1c.3242T>A (p.Leu1081Ter)
c.2951T>A (p.Leu984Ter)
c.77-1428T>A (n.77-1428T>A)
16g.51138981A>CCA395881188SALL1c.3241T>G (p.Leu1081Val)
c.2950T>G (p.Leu984Val)
c.77-1429T>G (n.77-1429T>G)
16g.51138981A>GCA495779961SALL1c.3241T>C (p.Leu1081=)
c.2950T>C (p.Leu984=)
c.77-1429T>C (n.77-1429T>C)

Number of alleles fetched