Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139010T>ACA395881357SALL1c.3212A>T (p.Gln1071Leu)
c.2921A>T (p.Gln974Leu)
c.77-1458A>T (n.77-1458A>T)
16g.51139010T>CCA395881352SALL1c.3212A>G (p.Gln1071Arg)
c.2921A>G (p.Gln974Arg)
c.77-1458A>G (n.77-1458A>G)
16g.51139010T>GCA395881354SALL1c.3212A>C (p.Gln1071Pro)
c.2921A>C (p.Gln974Pro)
c.77-1458A>C (n.77-1458A>C)
16g.51139011G>ACA395881360SALL1c.3211C>T (p.Gln1071Ter)
c.2920C>T (p.Gln974Ter)
c.77-1459C>T (n.77-1459C>T)
16g.51139011G>CCA395881362SALL1c.3211C>G (p.Gln1071Glu)
c.2920C>G (p.Gln974Glu)
c.77-1459C>G (n.77-1459C>G)
16g.51139011G>TCA395881364SALL1c.3211C>A (p.Gln1071Lys)
c.2920C>A (p.Gln974Lys)
c.77-1459C>A (n.77-1459C>A)
gnomAD v4
16g.51139012A=CA2222017236SALL1c.3210T= (p.Asn1070=)
c.2919T= (p.Asn973=)
c.77-1460T= (n.77-1460T=)
16g.51139012A>CCA395881374SALL1c.3210T>G (p.Asn1070Lys)
c.2919T>G (p.Asn973Lys)
c.77-1460T>G (n.77-1460T>G)
dbSNP
16g.51139012A>GCA495779992SALL1c.3210T>C (p.Asn1070=)
c.2919T>C (p.Asn973=)
c.77-1460T>C (n.77-1460T>C)
16g.51139012A>TCA395881376SALL1c.3210T>A (p.Asn1070Lys)
c.2919T>A (p.Asn973Lys)
c.77-1460T>A (n.77-1460T>A)
16g.51139013T>ACA395881379SALL1c.3209A>T (p.Asn1070Ile)
c.2918A>T (p.Asn973Ile)
c.77-1461A>T (n.77-1461A>T)
gnomAD v4
16g.51139013T>CCA8052976SALL1c.3209A>G (p.Asn1070Ser)
c.2918A>G (p.Asn973Ser)
c.77-1461A>G (n.77-1461A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139013T>GCA395881383SALL1c.3209A>C (p.Asn1070Thr)
c.2918A>C (p.Asn973Thr)
c.77-1461A>C (n.77-1461A>C)
16g.51139013T=CA2222017240SALL1c.3209A= (p.Asn1070=)
c.2918A= (p.Asn973=)
c.77-1461A= (n.77-1461A=)
16g.51139013_51139014insCCCCA2222017241SALL1c.3208_3209insGGG (p.Asn1070delinsArgAsp)
c.2917_2918insGGG (p.Asn973delinsArgAsp)
c.77-1462_77-1461insGGG (n.77-1462_77-1461insGGG)
dbSNP
16g.51139014T>ACA395881388SALL1c.3208A>T (p.Asn1070Tyr)
c.2917A>T (p.Asn973Tyr)
c.77-1462A>T (n.77-1462A>T)
16g.51139014T>CCA8052977SALL1c.3208A>G (p.Asn1070Asp)
c.2917A>G (p.Asn973Asp)
c.77-1462A>G (n.77-1462A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139014T>GCA395881391SALL1c.3208A>C (p.Asn1070His)
c.2917A>C (p.Asn973His)
c.77-1462A>C (n.77-1462A>C)
gnomAD v4
16g.51139014T=CA2222017243SALL1c.3208A= (p.Asn1070=)
c.2917A= (p.Asn973=)
c.77-1462A= (n.77-1462A=)
16g.51139015G>ACA495779994SALL1c.3207C>T (p.Pro1069=)
c.2916C>T (p.Pro972=)
c.77-1463C>T (n.77-1463C>T)
16g.51139015G>CCA495779996SALL1c.3207C>G (p.Pro1069=)
c.2916C>G (p.Pro972=)
c.77-1463C>G (n.77-1463C>G)
16g.51139015G>TCA495779995SALL1c.3207C>A (p.Pro1069=)
c.2916C>A (p.Pro972=)
c.77-1463C>A (n.77-1463C>A)
16g.51139016G>ACA395881394SALL1c.3206C>T (p.Pro1069Leu)
c.2915C>T (p.Pro972Leu)
c.77-1464C>T (n.77-1464C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139016G>CCA395881399SALL1c.3206C>G (p.Pro1069Arg)
c.2915C>G (p.Pro972Arg)
c.77-1464C>G (n.77-1464C>G)
16g.51139016G=CA2222017245SALL1c.3206C= (p.Pro1069=)
c.2915C= (p.Pro972=)
c.77-1464C= (n.77-1464C=)
16g.51139016G>TCA395881396SALL1c.3206C>A (p.Pro1069His)
c.2915C>A (p.Pro972His)
c.77-1464C>A (n.77-1464C>A)
COSMIC
16g.51139017G>ACA395881400SALL1c.3205C>T (p.Pro1069Ser)
c.2914C>T (p.Pro972Ser)
c.77-1465C>T (n.77-1465C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139017G>CCA395881402SALL1c.3205C>G (p.Pro1069Ala)
c.2914C>G (p.Pro972Ala)
c.77-1465C>G (n.77-1465C>G)
16g.51139017G=CA2222017248SALL1c.3205C= (p.Pro1069=)
c.2914C= (p.Pro972=)
c.77-1465C= (n.77-1465C=)
16g.51139017G>TCA395881401SALL1c.3205C>A (p.Pro1069Thr)
c.2914C>A (p.Pro972Thr)
c.77-1465C>A (n.77-1465C>A)
16g.51139018G>ACA495779998SALL1c.3204C>T (p.Gly1068=)
c.2913C>T (p.Gly971=)
c.77-1466C>T (n.77-1466C>T)
16g.51139018G>CCA495779999SALL1c.3204C>G (p.Gly1068=)
c.2913C>G (p.Gly971=)
c.77-1466C>G (n.77-1466C>G)
16g.51139018G>TCA495780001SALL1c.3204C>A (p.Gly1068=)
c.2913C>A (p.Gly971=)
c.77-1466C>A (n.77-1466C>A)
16g.51139019C>ACA395881404SALL1c.3203G>T (p.Gly1068Val)
c.2912G>T (p.Gly971Val)
c.77-1467G>T (n.77-1467G>T)
dbSNP
16g.51139019C=CA2222017250SALL1c.3203G= (p.Gly1068=)
c.2912G= (p.Gly971=)
c.77-1467G= (n.77-1467G=)
16g.51139019C>GCA395881405SALL1c.3203G>C (p.Gly1068Ala)
c.2912G>C (p.Gly971Ala)
c.77-1467G>C (n.77-1467G>C)
16g.51139019C>TCA395881412SALL1c.3203G>A (p.Gly1068Asp)
c.2912G>A (p.Gly971Asp)
c.77-1467G>A (n.77-1467G>A)
16g.51139020C>ACA395881421SALL1c.3202G>T (p.Gly1068Cys)
c.2911G>T (p.Gly971Cys)
c.77-1468G>T (n.77-1468G>T)
16g.51139020C=CA2222017253SALL1c.3202G= (p.Gly1068=)
c.2911G= (p.Gly971=)
c.77-1468G= (n.77-1468G=)
16g.51139020C>GCA395881423SALL1c.3202G>C (p.Gly1068Arg)
c.2911G>C (p.Gly971Arg)
c.77-1468G>C (n.77-1468G>C)
16g.51139020C>TCA395881425SALL1c.3202G>A (p.Gly1068Ser)
c.2911G>A (p.Gly971Ser)
c.77-1468G>A (n.77-1468G>A)
dbSNP gnomAD v2 gnomAD v4
16g.51139021A>CCA495780002SALL1c.3201T>G (p.Leu1067=)
c.2910T>G (p.Leu970=)
c.77-1469T>G (n.77-1469T>G)
16g.51139021A>GCA495780003SALL1c.3201T>C (p.Leu1067=)
c.2910T>C (p.Leu970=)
c.77-1469T>C (n.77-1469T>C)
gnomAD v4
16g.51139021A>TCA495780004SALL1c.3201T>A (p.Leu1067=)
c.2910T>A (p.Leu970=)
c.77-1469T>A (n.77-1469T>A)
16g.51139021_51139022delCA2511750274SALL1c.3200_3201del (p.Leu1067ArgfsTer?)
c.2909_2910del (p.Leu970ArgfsTer?)
c.77-1470_77-1469del (n.77-1470_77-1469del)
16g.51139022A>CCA395881435SALL1c.3200T>G (p.Leu1067Arg)
c.2909T>G (p.Leu970Arg)
c.77-1470T>G (n.77-1470T>G)
16g.51139022A>GCA395881439SALL1c.3200T>C (p.Leu1067Pro)
c.2909T>C (p.Leu970Pro)
c.77-1470T>C (n.77-1470T>C)
16g.51139022A>TCA395881441SALL1c.3200T>A (p.Leu1067His)
c.2909T>A (p.Leu970His)
c.77-1470T>A (n.77-1470T>A)
16g.51139023G>ACA395881442SALL1c.3199C>T (p.Leu1067Phe)
c.2908C>T (p.Leu970Phe)
c.77-1471C>T (n.77-1471C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139023G>CCA395881445SALL1c.3199C>G (p.Leu1067Val)
c.2908C>G (p.Leu970Val)
c.77-1471C>G (n.77-1471C>G)
16g.51139023G=CA2222017259SALL1c.3199C= (p.Leu1067=)
c.2908C= (p.Leu970=)
c.77-1471C= (n.77-1471C=)
16g.51139023G>TCA395881447SALL1c.3199C>A (p.Leu1067Ile)
c.2908C>A (p.Leu970Ile)
c.77-1471C>A (n.77-1471C>A)
16g.51139024G>ACA495780005SALL1c.3198C>T (p.Asn1066=)
c.2907C>T (p.Asn969=)
c.77-1472C>T (n.77-1472C>T)
16g.51139024G>CCA8052978SALL1c.3198C>G (p.Asn1066Lys)
c.2907C>G (p.Asn969Lys)
c.77-1472C>G (n.77-1472C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139024G=CA2222017265SALL1c.3198C= (p.Asn1066=)
c.2907C= (p.Asn969=)
c.77-1472C= (n.77-1472C=)
16g.51139024G>TCA395881450SALL1c.3198C>A (p.Asn1066Lys)
c.2907C>A (p.Asn969Lys)
c.77-1472C>A (n.77-1472C>A)
16g.51139025T>ACA8052979SALL1c.3197A>T (p.Asn1066Ile)
c.2906A>T (p.Asn969Ile)
c.77-1473A>T (n.77-1473A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139025T>CCA395881457SALL1c.3197A>G (p.Asn1066Ser)
c.2906A>G (p.Asn969Ser)
c.77-1473A>G (n.77-1473A>G)
gnomAD v4
16g.51139025T>GCA395881458SALL1c.3197A>C (p.Asn1066Thr)
c.2906A>C (p.Asn969Thr)
c.77-1473A>C (n.77-1473A>C)
16g.51139025T=CA2222017270SALL1c.3197A= (p.Asn1066=)
c.2906A= (p.Asn969=)
c.77-1473A= (n.77-1473A=)
16g.51139025_51139026insACCA2529794729SALL1c.3196_3197insGT (p.Asn1066SerfsTer11)
c.2905_2906insGT (p.Asn969SerfsTer11)
c.77-1474_77-1473insGT (n.77-1474_77-1473insGT)
16g.51139026T>ACA395881460SALL1c.3196A>T (p.Asn1066Tyr)
c.2905A>T (p.Asn969Tyr)
c.77-1474A>T (n.77-1474A>T)
16g.51139026T>CCA395881464SALL1c.3196A>G (p.Asn1066Asp)
c.2905A>G (p.Asn969Asp)
c.77-1474A>G (n.77-1474A>G)
16g.51139026T>GCA395881469SALL1c.3196A>C (p.Asn1066His)
c.2905A>C (p.Asn969His)
c.77-1474A>C (n.77-1474A>C)
16g.51139027G>ACA495780006SALL1c.3195C>T (p.Ser1065=)
c.2904C>T (p.Ser968=)
c.77-1475C>T (n.77-1475C>T)
16g.51139027G>CCA495780007SALL1c.3195C>G (p.Ser1065=)
c.2904C>G (p.Ser968=)
c.77-1475C>G (n.77-1475C>G)
16g.51139027G=CA2222017277SALL1c.3195C= (p.Ser1065=)
c.2904C= (p.Ser968=)
c.77-1475C= (n.77-1475C=)
16g.51139027G>TCA495780008SALL1c.3195C>A (p.Ser1065=)
c.2904C>A (p.Ser968=)
c.77-1475C>A (n.77-1475C>A)
dbSNP gnomAD v2 gnomAD v4
16g.51139028G>ACA395881472SALL1c.3194C>T (p.Ser1065Phe)
c.2903C>T (p.Ser968Phe)
c.77-1476C>T (n.77-1476C>T)
gnomAD v4 COSMIC
16g.51139028G>CCA395881474SALL1c.3194C>G (p.Ser1065Cys)
c.2903C>G (p.Ser968Cys)
c.77-1476C>G (n.77-1476C>G)
16g.51139028G>TCA395881476SALL1c.3194C>A (p.Ser1065Tyr)
c.2903C>A (p.Ser968Tyr)
c.77-1476C>A (n.77-1476C>A)
16g.51139029A>CCA395881480SALL1c.3193T>G (p.Ser1065Ala)
c.2902T>G (p.Ser968Ala)
c.77-1477T>G (n.77-1477T>G)
16g.51139029A>GCA395881481SALL1c.3193T>C (p.Ser1065Pro)
c.2902T>C (p.Ser968Pro)
c.77-1477T>C (n.77-1477T>C)
16g.51139029A>TCA395881482SALL1c.3193T>A (p.Ser1065Thr)
c.2902T>A (p.Ser968Thr)
c.77-1477T>A (n.77-1477T>A)
16g.51139030A>CCA395881483SALL1c.3192T>G (p.Ser1064Arg)
c.2901T>G (p.Ser967Arg)
c.77-1478T>G (n.77-1478T>G)
16g.51139030A>GCA495780009SALL1c.3192T>C (p.Ser1064=)
c.2901T>C (p.Ser967=)
c.77-1478T>C (n.77-1478T>C)
16g.51139030A>TCA395881484SALL1c.3192T>A (p.Ser1064Arg)
c.2901T>A (p.Ser967Arg)
c.77-1478T>A (n.77-1478T>A)
16g.51139031C>ACA395881485SALL1c.3191G>T (p.Ser1064Ile)
c.2900G>T (p.Ser967Ile)
c.77-1479G>T (n.77-1479G>T)
gnomAD v4
16g.51139031C=CA2222017282SALL1c.3191G= (p.Ser1064=)
c.2900G= (p.Ser967=)
c.77-1479G= (n.77-1479G=)
16g.51139031C>GCA395881486SALL1c.3191G>C (p.Ser1064Thr)
c.2900G>C (p.Ser967Thr)
c.77-1479G>C (n.77-1479G>C)
16g.51139031C>TCA395881487SALL1c.3191G>A (p.Ser1064Asn)
c.2900G>A (p.Ser967Asn)
c.77-1479G>A (n.77-1479G>A)
dbSNP
16g.51139032T>ACA395881489SALL1c.3190A>T (p.Ser1064Cys)
c.2899A>T (p.Ser967Cys)
c.77-1480A>T (n.77-1480A>T)
16g.51139032T>CCA395881493SALL1c.3190A>G (p.Ser1064Gly)
c.2899A>G (p.Ser967Gly)
c.77-1480A>G (n.77-1480A>G)
16g.51139032T>GCA395881494SALL1c.3190A>C (p.Ser1064Arg)
c.2899A>C (p.Ser967Arg)
c.77-1480A>C (n.77-1480A>C)
16g.51139033G>ACA495780011SALL1c.3189C>T (p.Pro1063=)
c.2898C>T (p.Pro966=)
c.77-1481C>T (n.77-1481C>T)
16g.51139033G>CCA495780013SALL1c.3189C>G (p.Pro1063=)
c.2898C>G (p.Pro966=)
c.77-1481C>G (n.77-1481C>G)
16g.51139033G>TCA495780014SALL1c.3189C>A (p.Pro1063=)
c.2898C>A (p.Pro966=)
c.77-1481C>A (n.77-1481C>A)
16g.51139034G>ACA395881503SALL1c.3188C>T (p.Pro1063Leu)
c.2897C>T (p.Pro966Leu)
c.77-1482C>T (n.77-1482C>T)
16g.51139034G>CCA395881498SALL1c.3188C>G (p.Pro1063Arg)
c.2897C>G (p.Pro966Arg)
c.77-1482C>G (n.77-1482C>G)
16g.51139034G>TCA395881501SALL1c.3188C>A (p.Pro1063His)
c.2897C>A (p.Pro966His)
c.77-1482C>A (n.77-1482C>A)
16g.51139035G>ACA395881506SALL1c.3187C>T (p.Pro1063Ser)
c.2896C>T (p.Pro966Ser)
c.77-1483C>T (n.77-1483C>T)
16g.51139035G>CCA395881509SALL1c.3187C>G (p.Pro1063Ala)
c.2896C>G (p.Pro966Ala)
c.77-1483C>G (n.77-1483C>G)
16g.51139035G>TCA395881510SALL1c.3187C>A (p.Pro1063Thr)
c.2896C>A (p.Pro966Thr)
c.77-1483C>A (n.77-1483C>A)
16g.51139036C>ACA395881514SALL1c.3186G>T (p.Glu1062Asp)
c.2895G>T (p.Glu965Asp)
c.77-1484G>T (n.77-1484G>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139036C=CA2222017284SALL1c.3186G= (p.Glu1062=)
c.2895G= (p.Glu965=)
c.77-1484G= (n.77-1484G=)
16g.51139036C>GCA395881517SALL1c.3186G>C (p.Glu1062Asp)
c.2895G>C (p.Glu965Asp)
c.77-1484G>C (n.77-1484G>C)
16g.51139036C>TCA495780015SALL1c.3186G>A (p.Glu1062=)
c.2895G>A (p.Glu965=)
c.77-1484G>A (n.77-1484G>A)
16g.51139037T>ACA395881520SALL1c.3185A>T (p.Glu1062Val)
c.2894A>T (p.Glu965Val)
c.77-1485A>T (n.77-1485A>T)
16g.51139037T>CCA395881524SALL1c.3185A>G (p.Glu1062Gly)
c.2894A>G (p.Glu965Gly)
c.77-1485A>G (n.77-1485A>G)
gnomAD v4
16g.51139037T>GCA395881523SALL1c.3185A>C (p.Glu1062Ala)
c.2894A>C (p.Glu965Ala)
c.77-1485A>C (n.77-1485A>C)
16g.51139038C>ACA395881528SALL1c.3184G>T (p.Glu1062Ter)
c.2893G>T (p.Glu965Ter)
c.77-1486G>T (n.77-1486G>T)
16g.51139038C>GCA395881530SALL1c.3184G>C (p.Glu1062Gln)
c.2893G>C (p.Glu965Gln)
c.77-1486G>C (n.77-1486G>C)
16g.51139038C>TCA395881532SALL1c.3184G>A (p.Glu1062Lys)
c.2893G>A (p.Glu965Lys)
c.77-1486G>A (n.77-1486G>A)
COSMIC
16g.51139039A=CA2222017287SALL1c.3183T= (p.Phe1061=)
c.2892T= (p.Phe964=)
c.77-1487T= (n.77-1487T=)
16g.51139039A>CCA395881536SALL1c.3183T>G (p.Phe1061Leu)
c.2892T>G (p.Phe964Leu)
c.77-1487T>G (n.77-1487T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139039A>GCA495780017SALL1c.3183T>C (p.Phe1061=)
c.2892T>C (p.Phe964=)
c.77-1487T>C (n.77-1487T>C)
16g.51139039A>TCA395881538SALL1c.3183T>A (p.Phe1061Leu)
c.2892T>A (p.Phe964Leu)
c.77-1487T>A (n.77-1487T>A)
16g.51139040A>CCA395881539SALL1c.3182T>G (p.Phe1061Cys)
c.2891T>G (p.Phe964Cys)
c.77-1488T>G (n.77-1488T>G)
16g.51139040A>GCA395881540SALL1c.3182T>C (p.Phe1061Ser)
c.2891T>C (p.Phe964Ser)
c.77-1488T>C (n.77-1488T>C)
16g.51139040A>TCA395881541SALL1c.3182T>A (p.Phe1061Tyr)
c.2891T>A (p.Phe964Tyr)
c.77-1488T>A (n.77-1488T>A)
16g.51139041A>CCA395881542SALL1c.3181T>G (p.Phe1061Val)
c.2890T>G (p.Phe964Val)
c.77-1489T>G (n.77-1489T>G)
16g.51139041A>GCA395881543SALL1c.3181T>C (p.Phe1061Leu)
c.2890T>C (p.Phe964Leu)
c.77-1489T>C (n.77-1489T>C)
16g.51139041A>TCA395881545SALL1c.3181T>A (p.Phe1061Ile)
c.2890T>A (p.Phe964Ile)
c.77-1489T>A (n.77-1489T>A)
16g.51139042G>ACA281300755SALL1c.3180C>T (p.Leu1060=)
c.2889C>T (p.Leu963=)
c.77-1490C>T (n.77-1490C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139042G>CCA495780021SALL1c.3180C>G (p.Leu1060=)
c.2889C>G (p.Leu963=)
c.77-1490C>G (n.77-1490C>G)
gnomAD v4
16g.51139042G=CA2222017296SALL1c.3180C= (p.Leu1060=)
c.2889C= (p.Leu963=)
c.77-1490C= (n.77-1490C=)
16g.51139042G>TCA8052980SALL1c.3180C>A (p.Leu1060=)
c.2889C>A (p.Leu963=)
c.77-1490C>A (n.77-1490C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139043A>CCA395881549SALL1c.3179T>G (p.Leu1060Arg)
c.2888T>G (p.Leu963Arg)
c.77-1491T>G (n.77-1491T>G)
16g.51139043A>GCA395881547SALL1c.3179T>C (p.Leu1060Pro)
c.2888T>C (p.Leu963Pro)
c.77-1491T>C (n.77-1491T>C)
16g.51139043A>TCA395881551SALL1c.3179T>A (p.Leu1060His)
c.2888T>A (p.Leu963His)
c.77-1491T>A (n.77-1491T>A)
16g.51139044G>ACA8052981SALL1c.3178C>T (p.Leu1060Phe)
c.2887C>T (p.Leu963Phe)
c.77-1492C>T (n.77-1492C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139044G>CCA395881558SALL1c.3178C>G (p.Leu1060Val)
c.2887C>G (p.Leu963Val)
c.77-1492C>G (n.77-1492C>G)
16g.51139044G=CA2222017306SALL1c.3178C= (p.Leu1060=)
c.2887C= (p.Leu963=)
c.77-1492C= (n.77-1492C=)
16g.51139044G>TCA395881559SALL1c.3178C>A (p.Leu1060Ile)
c.2887C>A (p.Leu963Ile)
c.77-1492C>A (n.77-1492C>A)
16g.51139045C>ACA395881562SALL1c.3177G>T (p.Gln1059His)
c.2886G>T (p.Gln962His)
c.77-1493G>T (n.77-1493G>T)
16g.51139045C=CA2222017322SALL1c.3177G= (p.Gln1059=)
c.2886G= (p.Gln962=)
c.77-1493G= (n.77-1493G=)
16g.51139045C>GCA395881564SALL1c.3177G>C (p.Gln1059His)
c.2886G>C (p.Gln962His)
c.77-1493G>C (n.77-1493G>C)
dbSNP gnomAD v2 gnomAD v4
16g.51139045C>TCA8052982SALL1c.3177G>A (p.Gln1059=)
c.2886G>A (p.Gln962=)
c.77-1493G>A (n.77-1493G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139046T>ACA395881572SALL1c.3176A>T (p.Gln1059Leu)
c.2885A>T (p.Gln962Leu)
c.77-1494A>T (n.77-1494A>T)
16g.51139046T>CCA395881570SALL1c.3176A>G (p.Gln1059Arg)
c.2885A>G (p.Gln962Arg)
c.77-1494A>G (n.77-1494A>G)
16g.51139046T>GCA395881568SALL1c.3176A>C (p.Gln1059Pro)
c.2885A>C (p.Gln962Pro)
c.77-1494A>C (n.77-1494A>C)
16g.51139047G>ACA395881574SALL1c.3175C>T (p.Gln1059Ter)
c.2884C>T (p.Gln962Ter)
c.77-1495C>T (n.77-1495C>T)
16g.51139047G>CCA395881575SALL1c.3175C>G (p.Gln1059Glu)
c.2884C>G (p.Gln962Glu)
c.77-1495C>G (n.77-1495C>G)
16g.51139047G>TCA395881576SALL1c.3175C>A (p.Gln1059Lys)
c.2884C>A (p.Gln962Lys)
c.77-1495C>A (n.77-1495C>A)
16g.51139048G>ACA495780023SALL1c.3174C>T (p.Ser1058=)
c.2883C>T (p.Ser961=)
c.77-1496C>T (n.77-1496C>T)
gnomAD v4 COSMIC
16g.51139048G>CCA495780024SALL1c.3174C>G (p.Ser1058=)
c.2883C>G (p.Ser961=)
c.77-1496C>G (n.77-1496C>G)
16g.51139048G>TCA495780025SALL1c.3174C>A (p.Ser1058=)
c.2883C>A (p.Ser961=)
c.77-1496C>A (n.77-1496C>A)
gnomAD v3 gnomAD v4
16g.51139049G>ACA395881577SALL1c.3173C>T (p.Ser1058Phe)
c.2882C>T (p.Ser961Phe)
c.77-1497C>T (n.77-1497C>T)
16g.51139049G>CCA395881578SALL1c.3173C>G (p.Ser1058Cys)
c.2882C>G (p.Ser961Cys)
c.77-1497C>G (n.77-1497C>G)
ClinVar dbSNP
16g.51139049G>TCA395881580SALL1c.3173C>A (p.Ser1058Tyr)
c.2882C>A (p.Ser961Tyr)
c.77-1497C>A (n.77-1497C>A)
16g.51139050A>CCA395881589SALL1c.3172T>G (p.Ser1058Ala)
c.2881T>G (p.Ser961Ala)
c.77-1498T>G (n.77-1498T>G)
16g.51139050A>GCA395881582SALL1c.3172T>C (p.Ser1058Pro)
c.2881T>C (p.Ser961Pro)
c.77-1498T>C (n.77-1498T>C)
16g.51139050A>TCA395881587SALL1c.3172T>A (p.Ser1058Thr)
c.2881T>A (p.Ser961Thr)
c.77-1498T>A (n.77-1498T>A)
16g.51139051T>ACA495780026SALL1c.3171A>T (p.Pro1057=)
c.2880A>T (p.Pro960=)
c.77-1499A>T (n.77-1499A>T)
16g.51139051T>CCA495780027SALL1c.3171A>G (p.Pro1057=)
c.2880A>G (p.Pro960=)
c.77-1499A>G (n.77-1499A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139051T>GCA495780028SALL1c.3171A>C (p.Pro1057=)
c.2880A>C (p.Pro960=)
c.77-1499A>C (n.77-1499A>C)
16g.51139051T=CA2222017327SALL1c.3171A= (p.Pro1057=)
c.2880A= (p.Pro960=)
c.77-1499A= (n.77-1499A=)
16g.51139052G>ACA395881592SALL1c.3170C>T (p.Pro1057Leu)
c.2879C>T (p.Pro960Leu)
c.77-1500C>T (n.77-1500C>T)
16g.51139052G>CCA395881599SALL1c.3170C>G (p.Pro1057Arg)
c.2879C>G (p.Pro960Arg)
c.77-1500C>G (n.77-1500C>G)
16g.51139052G>TCA395881602SALL1c.3170C>A (p.Pro1057Gln)
c.2879C>A (p.Pro960Gln)
c.77-1500C>A (n.77-1500C>A)
16g.51139053G>ACA395881604SALL1c.3169C>T (p.Pro1057Ser)
c.2878C>T (p.Pro960Ser)
c.77-1501C>T (n.77-1501C>T)
16g.51139053G>CCA395881606SALL1c.3169C>G (p.Pro1057Ala)
c.2878C>G (p.Pro960Ala)
c.77-1501C>G (n.77-1501C>G)
16g.51139053G>TCA395881608SALL1c.3169C>A (p.Pro1057Thr)
c.2878C>A (p.Pro960Thr)
c.77-1501C>A (n.77-1501C>A)
16g.51139054delCA2695223341SALL1c.3168del (p.Pro1057HisfsTer19)
c.2877del (p.Pro960HisfsTer19)
c.77-1502del (n.77-1502del)
16g.51139054C>ACA495780030SALL1c.3168G>T (p.Leu1056=)
c.2877G>T (p.Leu959=)
c.77-1502G>T (n.77-1502G>T)
16g.51139054C>GCA495780031SALL1c.3168G>C (p.Leu1056=)
c.2877G>C (p.Leu959=)
c.77-1502G>C (n.77-1502G>C)
16g.51139054C>TCA495780032SALL1c.3168G>A (p.Leu1056=)
c.2877G>A (p.Leu959=)
c.77-1502G>A (n.77-1502G>A)
dbSNP gnomAD v4
16g.51139055A>CCA395881611SALL1c.3167T>G (p.Leu1056Arg)
c.2876T>G (p.Leu959Arg)
c.77-1503T>G (n.77-1503T>G)
16g.51139055A>GCA395881613SALL1c.3167T>C (p.Leu1056Pro)
c.2876T>C (p.Leu959Pro)
c.77-1503T>C (n.77-1503T>C)
16g.51139055A>TCA395881614SALL1c.3167T>A (p.Leu1056Gln)
c.2876T>A (p.Leu959Gln)
c.77-1503T>A (n.77-1503T>A)
16g.51139056G>ACA495780033SALL1c.3166C>T (p.Leu1056=)
c.2875C>T (p.Leu959=)
c.77-1504C>T (n.77-1504C>T)
dbSNP gnomAD v4 COSMIC
16g.51139056G>CCA395881616SALL1c.3166C>G (p.Leu1056Val)
c.2875C>G (p.Leu959Val)
c.77-1504C>G (n.77-1504C>G)
16g.51139056G=CA2222017330SALL1c.3166C= (p.Leu1056=)
c.2875C= (p.Leu959=)
c.77-1504C= (n.77-1504C=)
16g.51139056G>TCA395881619SALL1c.3166C>A (p.Leu1056Met)
c.2875C>A (p.Leu959Met)
c.77-1504C>A (n.77-1504C>A)
16g.51139057A>CCA395881621SALL1c.3165T>G (p.Asp1055Glu)
c.2874T>G (p.Asp958Glu)
c.77-1505T>G (n.77-1505T>G)
16g.51139057A>GCA495780035SALL1c.3165T>C (p.Asp1055=)
c.2874T>C (p.Asp958=)
c.77-1505T>C (n.77-1505T>C)
16g.51139057A>TCA395881623SALL1c.3165T>A (p.Asp1055Glu)
c.2874T>A (p.Asp958Glu)
c.77-1505T>A (n.77-1505T>A)
16g.51139058T>ACA281300783SALL1c.3164A>T (p.Asp1055Val)
c.2873A>T (p.Asp958Val)
c.77-1506A>T (n.77-1506A>T)
dbSNP
16g.51139058T>CCA395881628SALL1c.3164A>G (p.Asp1055Gly)
c.2873A>G (p.Asp958Gly)
c.77-1506A>G (n.77-1506A>G)
16g.51139058T>GCA395881626SALL1c.3164A>C (p.Asp1055Ala)
c.2873A>C (p.Asp958Ala)
c.77-1506A>C (n.77-1506A>C)
16g.51139058T=CA2222017336SALL1c.3164A= (p.Asp1055=)
c.2873A= (p.Asp958=)
c.77-1506A= (n.77-1506A=)
16g.51139059C>ACA395881631SALL1c.3163G>T (p.Asp1055Tyr)
c.2872G>T (p.Asp958Tyr)
c.77-1507G>T (n.77-1507G>T)
16g.51139059C=CA2222017338SALL1c.3163G= (p.Asp1055=)
c.2872G= (p.Asp958=)
c.77-1507G= (n.77-1507G=)
16g.51139059C>GCA8052983SALL1c.3163G>C (p.Asp1055His)
c.2872G>C (p.Asp958His)
c.77-1507G>C (n.77-1507G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139059C>TCA395881636SALL1c.3163G>A (p.Asp1055Asn)
c.2872G>A (p.Asp958Asn)
c.77-1507G>A (n.77-1507G>A)
16g.51139060T>ACA495780036SALL1c.3162A>T (p.Arg1054=)
c.2871A>T (p.Arg957=)
c.77-1508A>T (n.77-1508A>T)
16g.51139060T>CCA495780037SALL1c.3162A>G (p.Arg1054=)
c.2871A>G (p.Arg957=)
c.77-1508A>G (n.77-1508A>G)
16g.51139060T>GCA495780038SALL1c.3162A>C (p.Arg1054=)
c.2871A>C (p.Arg957=)
c.77-1508A>C (n.77-1508A>C)
16g.51139061C>ACA395881638SALL1c.3161G>T (p.Arg1054Leu)
c.2870G>T (p.Arg957Leu)
c.77-1509G>T (n.77-1509G>T)
16g.51139061C=CA2222017343SALL1c.3161G= (p.Arg1054=)
c.2870G= (p.Arg957=)
c.77-1509G= (n.77-1509G=)
16g.51139061C>GCA8052984SALL1c.3161G>C (p.Arg1054Pro)
c.2870G>C (p.Arg957Pro)
c.77-1509G>C (n.77-1509G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139061C>TCA395881641SALL1c.3161G>A (p.Arg1054Gln)
c.2870G>A (p.Arg957Gln)
c.77-1509G>A (n.77-1509G>A)
dbSNP COSMIC
16g.51139062G>ACA347917SALL1c.3160C>T (p.Arg1054Ter)
c.2869C>T (p.Arg957Ter)
c.77-1510C>T (n.77-1510C>T)
ClinVar dbSNP COSMIC
16g.51139062G>CCA395881644SALL1c.3160C>G (p.Arg1054Gly)
c.2869C>G (p.Arg957Gly)
c.77-1510C>G (n.77-1510C>G)
16g.51139062G=CA2222017353SALL1c.3160C= (p.Arg1054=)
c.2869C= (p.Arg957=)
c.77-1510C= (n.77-1510C=)
16g.51139062G>TCA495780041SALL1c.3160C>A (p.Arg1054=)
c.2869C>A (p.Arg957=)
c.77-1510C>A (n.77-1510C>A)
gnomAD v4
16g.51139063C>ACA395881648SALL1c.3159G>T (p.Met1053Ile)
c.2868G>T (p.Met956Ile)
c.77-1511G>T (n.77-1511G>T)
16g.51139063C>GCA395881651SALL1c.3159G>C (p.Met1053Ile)
c.2868G>C (p.Met956Ile)
c.77-1511G>C (n.77-1511G>C)
16g.51139063C>TCA395881652SALL1c.3159G>A (p.Met1053Ile)
c.2868G>A (p.Met956Ile)
c.77-1511G>A (n.77-1511G>A)
gnomAD v4
16g.51139064A>CCA395881655SALL1c.3158T>G (p.Met1053Arg)
c.2867T>G (p.Met956Arg)
c.77-1512T>G (n.77-1512T>G)
16g.51139064A>GCA395881657SALL1c.3158T>C (p.Met1053Thr)
c.2867T>C (p.Met956Thr)
c.77-1512T>C (n.77-1512T>C)
gnomAD v4
16g.51139064A>TCA395881660SALL1c.3158T>A (p.Met1053Lys)
c.2867T>A (p.Met956Lys)
c.77-1512T>A (n.77-1512T>A)
16g.51139065T>ACA395881662SALL1c.3157A>T (p.Met1053Leu)
c.2866A>T (p.Met956Leu)
c.77-1513A>T (n.77-1513A>T)
16g.51139065T>CCA395881664SALL1c.3157A>G (p.Met1053Val)
c.2866A>G (p.Met956Val)
c.77-1513A>G (n.77-1513A>G)
gnomAD v4
16g.51139065T>GCA16607036SALL1c.3157A>C (p.Met1053Leu)
c.2866A>C (p.Met956Leu)
c.77-1513A>C (n.77-1513A>C)
ClinVar dbSNP
16g.51139065T=CA2222017359SALL1c.3157A= (p.Met1053=)
c.2866A= (p.Met956=)
c.77-1513A= (n.77-1513A=)
16g.51139066C>ACA395881667SALL1c.3156G>T (p.Gln1052His)
c.2865G>T (p.Gln955His)
c.77-1514G>T (n.77-1514G>T)
16g.51139066C=CA2222017366SALL1c.3156G= (p.Gln1052=)
c.2865G= (p.Gln955=)
c.77-1514G= (n.77-1514G=)
16g.51139066C>GCA281300818SALL1c.3156G>C (p.Gln1052His)
c.2865G>C (p.Gln955His)
c.77-1514G>C (n.77-1514G>C)
dbSNP
16g.51139066C>TCA495780043SALL1c.3156G>A (p.Gln1052=)
c.2865G>A (p.Gln955=)
c.77-1514G>A (n.77-1514G>A)
16g.51139067T>ACA395881671SALL1c.3155A>T (p.Gln1052Leu)
c.2864A>T (p.Gln955Leu)
c.77-1515A>T (n.77-1515A>T)
16g.51139067T>CCA395881673SALL1c.3155A>G (p.Gln1052Arg)
c.2864A>G (p.Gln955Arg)
c.77-1515A>G (n.77-1515A>G)
dbSNP gnomAD v2
16g.51139067T>GCA395881676SALL1c.3155A>C (p.Gln1052Pro)
c.2864A>C (p.Gln955Pro)
c.77-1515A>C (n.77-1515A>C)
16g.51139067T=CA2222017367SALL1c.3155A= (p.Gln1052=)
c.2864A= (p.Gln955=)
c.77-1515A= (n.77-1515A=)
16g.51139068G>ACA16042991SALL1c.3154C>T (p.Gln1052Ter)
c.2863C>T (p.Gln955Ter)
c.77-1516C>T (n.77-1516C>T)
ClinVar dbSNP COSMIC
16g.51139068G>CCA395881681SALL1c.3154C>G (p.Gln1052Glu)
c.2863C>G (p.Gln955Glu)
c.77-1516C>G (n.77-1516C>G)
gnomAD v4
16g.51139068G=CA2222017373SALL1c.3154C= (p.Gln1052=)
c.2863C= (p.Gln955=)
c.77-1516C= (n.77-1516C=)
16g.51139068G>TCA395881683SALL1c.3154C>A (p.Gln1052Lys)
c.2863C>A (p.Gln955Lys)
c.77-1516C>A (n.77-1516C>A)
16g.51139069A>CCA395881685SALL1c.3153T>G (p.His1051Gln)
c.2862T>G (p.His954Gln)
c.77-1517T>G (n.77-1517T>G)
16g.51139069A>GCA495779868SALL1c.3153T>C (p.His1051=)
c.2862T>C (p.His954=)
c.77-1517T>C (n.77-1517T>C)
16g.51139069A>TCA395881687SALL1c.3153T>A (p.His1051Gln)
c.2862T>A (p.His954Gln)
c.77-1517T>A (n.77-1517T>A)
gnomAD v4
16g.51139070T>ACA395881691SALL1c.3152A>T (p.His1051Leu)
c.2861A>T (p.His954Leu)
c.77-1518A>T (n.77-1518A>T)
16g.51139070T>CCA395881694SALL1c.3152A>G (p.His1051Arg)
c.2861A>G (p.His954Arg)
c.77-1518A>G (n.77-1518A>G)
16g.51139070T>GCA395881692SALL1c.3152A>C (p.His1051Pro)
c.2861A>C (p.His954Pro)
c.77-1518A>C (n.77-1518A>C)
16g.51139071G>ACA395881696SALL1c.3151C>T (p.His1051Tyr)
c.2860C>T (p.His954Tyr)
c.77-1519C>T (n.77-1519C>T)
16g.51139071G>CCA395881702SALL1c.3151C>G (p.His1051Asp)
c.2860C>G (p.His954Asp)
c.77-1519C>G (n.77-1519C>G)
16g.51139071G>TCA395881699SALL1c.3151C>A (p.His1051Asn)
c.2860C>A (p.His954Asn)
c.77-1519C>A (n.77-1519C>A)
16g.51139072T>ACA495779873SALL1c.3150A>T (p.Thr1050=)
c.2859A>T (p.Thr953=)
c.77-1520A>T (n.77-1520A>T)
16g.51139072T>CCA495779874SALL1c.3150A>G (p.Thr1050=)
c.2859A>G (p.Thr953=)
c.77-1520A>G (n.77-1520A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139072T>GCA495779875SALL1c.3150A>C (p.Thr1050=)
c.2859A>C (p.Thr953=)
c.77-1520A>C (n.77-1520A>C)
gnomAD v4
16g.51139072T=CA2222017378SALL1c.3150A= (p.Thr1050=)
c.2859A= (p.Thr953=)
c.77-1520A= (n.77-1520A=)
16g.51139073G>ACA395881705SALL1c.3149C>T (p.Thr1050Ile)
c.2858C>T (p.Thr953Ile)
c.77-1521C>T (n.77-1521C>T)
COSMIC
16g.51139073G>CCA395881708SALL1c.3149C>G (p.Thr1050Arg)
c.2858C>G (p.Thr953Arg)
c.77-1521C>G (n.77-1521C>G)
16g.51139073G>TCA395881711SALL1c.3149C>A (p.Thr1050Lys)
c.2858C>A (p.Thr953Lys)
c.77-1521C>A (n.77-1521C>A)
16g.51139074T>ACA395881714SALL1c.3148A>T (p.Thr1050Ser)
c.2857A>T (p.Thr953Ser)
c.77-1522A>T (n.77-1522A>T)
16g.51139074T>CCA395881715SALL1c.3148A>G (p.Thr1050Ala)
c.2857A>G (p.Thr953Ala)
c.77-1522A>G (n.77-1522A>G)
16g.51139074T>GCA395881716SALL1c.3148A>C (p.Thr1050Pro)
c.2857A>C (p.Thr953Pro)
c.77-1522A>C (n.77-1522A>C)
16g.51139075C>ACA395881717SALL1c.3147G>T (p.Leu1049Phe)
c.2856G>T (p.Leu952Phe)
c.77-1523G>T (n.77-1523G>T)
16g.51139075C>GCA395881718SALL1c.3147G>C (p.Leu1049Phe)
c.2856G>C (p.Leu952Phe)
c.77-1523G>C (n.77-1523G>C)
16g.51139075C>TCA495779880SALL1c.3147G>A (p.Leu1049=)
c.2856G>A (p.Leu952=)
c.77-1523G>A (n.77-1523G>A)
16g.51139076A>CCA395881721SALL1c.3146T>G (p.Leu1049Trp)
c.2855T>G (p.Leu952Trp)
c.77-1524T>G (n.77-1524T>G)
16g.51139076A>GCA395881726SALL1c.3146T>C (p.Leu1049Ser)
c.2855T>C (p.Leu952Ser)
c.77-1524T>C (n.77-1524T>C)
16g.51139076A>TCA395881729SALL1c.3146T>A (p.Leu1049Ter)
c.2855T>A (p.Leu952Ter)
c.77-1524T>A (n.77-1524T>A)
16g.51139077A>CCA395881733SALL1c.3145T>G (p.Leu1049Val)
c.2854T>G (p.Leu952Val)
c.77-1525T>G (n.77-1525T>G)
16g.51139077A>GCA495779885SALL1c.3145T>C (p.Leu1049=)
c.2854T>C (p.Leu952=)
c.77-1525T>C (n.77-1525T>C)
gnomAD v4
16g.51139077A>TCA395881731SALL1c.3145T>A (p.Leu1049Met)
c.2854T>A (p.Leu952Met)
c.77-1525T>A (n.77-1525T>A)
16g.51139078C>ACA395881735SALL1c.3144G>T (p.Met1048Ile)
c.2853G>T (p.Met951Ile)
c.77-1526G>T (n.77-1526G>T)
16g.51139078C>GCA395881736SALL1c.3144G>C (p.Met1048Ile)
c.2853G>C (p.Met951Ile)
c.77-1526G>C (n.77-1526G>C)
16g.51139078C>TCA395881738SALL1c.3144G>A (p.Met1048Ile)
c.2853G>A (p.Met951Ile)
c.77-1526G>A (n.77-1526G>A)
16g.51139079A=CA2222017383SALL1c.3143T= (p.Met1048=)
c.2852T= (p.Met951=)
c.77-1527T= (n.77-1527T=)
16g.51139079A>CCA8052985SALL1c.3143T>G (p.Met1048Arg)
c.2852T>G (p.Met951Arg)
c.77-1527T>G (n.77-1527T>G)
dbSNP ExAC gnomAD v2
16g.51139079A>GCA395881741SALL1c.3143T>C (p.Met1048Thr)
c.2852T>C (p.Met951Thr)
c.77-1527T>C (n.77-1527T>C)
gnomAD v4
16g.51139079A>TCA395881743SALL1c.3143T>A (p.Met1048Lys)
c.2852T>A (p.Met951Lys)
c.77-1527T>A (n.77-1527T>A)
16g.51139080T>ACA395881747SALL1c.3142A>T (p.Met1048Leu)
c.2851A>T (p.Met951Leu)
c.77-1528A>T (n.77-1528A>T)
16g.51139080T>CCA395881749SALL1c.3142A>G (p.Met1048Val)
c.2851A>G (p.Met951Val)
c.77-1528A>G (n.77-1528A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139080T>GCA395881751SALL1c.3142A>C (p.Met1048Leu)
c.2851A>C (p.Met951Leu)
c.77-1528A>C (n.77-1528A>C)
16g.51139080T=CA2222017388SALL1c.3142A= (p.Met1048=)
c.2851A= (p.Met951=)
c.77-1528A= (n.77-1528A=)
16g.51139081G>ACA495779890SALL1c.3141C>T (p.His1047=)
c.2850C>T (p.His950=)
c.77-1529C>T (n.77-1529C>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139081G>CCA395881753SALL1c.3141C>G (p.His1047Gln)
c.2850C>G (p.His950Gln)
c.77-1529C>G (n.77-1529C>G)
16g.51139081G=CA2222017393SALL1c.3141C= (p.His1047=)
c.2850C= (p.His950=)
c.77-1529C= (n.77-1529C=)
16g.51139081G>TCA395881755SALL1c.3141C>A (p.His1047Gln)
c.2850C>A (p.His950Gln)
c.77-1529C>A (n.77-1529C>A)
16g.51139082T>ACA395881758SALL1c.3140A>T (p.His1047Leu)
c.2849A>T (p.His950Leu)
c.77-1530A>T (n.77-1530A>T)
16g.51139082T>CCA395881760SALL1c.3140A>G (p.His1047Arg)
c.2849A>G (p.His950Arg)
c.77-1530A>G (n.77-1530A>G)
16g.51139082T>GCA395881756SALL1c.3140A>C (p.His1047Pro)
c.2849A>C (p.His950Pro)
c.77-1530A>C (n.77-1530A>C)
16g.51139083G>ACA395881762SALL1c.3139C>T (p.His1047Tyr)
c.2848C>T (p.His950Tyr)
c.77-1531C>T (n.77-1531C>T)
COSMIC
16g.51139083G>CCA395881764SALL1c.3139C>G (p.His1047Asp)
c.2848C>G (p.His950Asp)
c.77-1531C>G (n.77-1531C>G)
16g.51139083G>TCA395881766SALL1c.3139C>A (p.His1047Asn)
c.2848C>A (p.His950Asn)
c.77-1531C>A (n.77-1531C>A)
16g.51139084C>ACA395881770SALL1c.3138G>T (p.Gln1046His)
c.2847G>T (p.Gln949His)
c.77-1532G>T (n.77-1532G>T)
16g.51139084C>GCA395881772SALL1c.3138G>C (p.Gln1046His)
c.2847G>C (p.Gln949His)
c.77-1532G>C (n.77-1532G>C)
16g.51139084C>TCA495779896SALL1c.3138G>A (p.Gln1046=)
c.2847G>A (p.Gln949=)
c.77-1532G>A (n.77-1532G>A)
16g.51139085T>ACA395881779SALL1c.3137A>T (p.Gln1046Leu)
c.2846A>T (p.Gln949Leu)
c.77-1533A>T (n.77-1533A>T)
16g.51139085T>CCA395881774SALL1c.3137A>G (p.Gln1046Arg)
c.2846A>G (p.Gln949Arg)
c.77-1533A>G (n.77-1533A>G)
16g.51139085T>GCA395881776SALL1c.3137A>C (p.Gln1046Pro)
c.2846A>C (p.Gln949Pro)
c.77-1533A>C (n.77-1533A>C)
16g.51139086G>ACA395881781SALL1c.3136C>T (p.Gln1046Ter)
c.2845C>T (p.Gln949Ter)
c.77-1534C>T (n.77-1534C>T)
16g.51139086G>CCA395881783SALL1c.3136C>G (p.Gln1046Glu)
c.2845C>G (p.Gln949Glu)
c.77-1534C>G (n.77-1534C>G)
16g.51139086G>TCA395881785SALL1c.3136C>A (p.Gln1046Lys)
c.2845C>A (p.Gln949Lys)
c.77-1534C>A (n.77-1534C>A)
16g.51139087C>ACA395881787SALL1c.3135G>T (p.Lys1045Asn)
c.2844G>T (p.Lys948Asn)
c.77-1535G>T (n.77-1535G>T)
16g.51139087C>GCA395881789SALL1c.3135G>C (p.Lys1045Asn)
c.2844G>C (p.Lys948Asn)
c.77-1535G>C (n.77-1535G>C)
16g.51139087C>TCA495779902SALL1c.3135G>A (p.Lys1045=)
c.2844G>A (p.Lys948=)
c.77-1535G>A (n.77-1535G>A)
16g.51139088T>ACA395881791SALL1c.3134A>T (p.Lys1045Met)
c.2843A>T (p.Lys948Met)
c.77-1536A>T (n.77-1536A>T)
16g.51139088T>CCA395881794SALL1c.3134A>G (p.Lys1045Arg)
c.2843A>G (p.Lys948Arg)
c.77-1536A>G (n.77-1536A>G)
16g.51139088T>GCA395881792SALL1c.3134A>C (p.Lys1045Thr)
c.2843A>C (p.Lys948Thr)
c.77-1536A>C (n.77-1536A>C)
16g.51139089T>ACA395881798SALL1c.3133A>T (p.Lys1045Ter)
c.2842A>T (p.Lys948Ter)
c.77-1537A>T (n.77-1537A>T)
16g.51139089T>CCA395881800SALL1c.3133A>G (p.Lys1045Glu)
c.2842A>G (p.Lys948Glu)
c.77-1537A>G (n.77-1537A>G)
16g.51139089T>GCA395881802SALL1c.3133A>C (p.Lys1045Gln)
c.2842A>C (p.Lys948Gln)
c.77-1537A>C (n.77-1537A>C)
16g.51139090C>ACA395881810SALL1c.3132G>T (p.Leu1044Phe)
c.2841G>T (p.Leu947Phe)
c.77-1538G>T (n.77-1538G>T)
16g.51139090C>GCA395881814SALL1c.3132G>C (p.Leu1044Phe)
c.2841G>C (p.Leu947Phe)
c.77-1538G>C (n.77-1538G>C)
16g.51139090C>TCA495779909SALL1c.3132G>A (p.Leu1044=)
c.2841G>A (p.Leu947=)
c.77-1538G>A (n.77-1538G>A)
16g.51139091A>CCA395881818SALL1c.3131T>G (p.Leu1044Trp)
c.2840T>G (p.Leu947Trp)
c.77-1539T>G (n.77-1539T>G)
16g.51139091A>GCA395881821SALL1c.3131T>C (p.Leu1044Ser)
c.2840T>C (p.Leu947Ser)
c.77-1539T>C (n.77-1539T>C)
16g.51139091A>TCA395881824SALL1c.3131T>A (p.Leu1044Ter)
c.2840T>A (p.Leu947Ter)
c.77-1539T>A (n.77-1539T>A)
16g.51139092A=CA2222017398SALL1c.3130T= (p.Leu1044=)
c.2839T= (p.Leu947=)
c.77-1540T= (n.77-1540T=)
16g.51139092A>CCA395881826SALL1c.3130T>G (p.Leu1044Val)
c.2839T>G (p.Leu947Val)
c.77-1540T>G (n.77-1540T>G)
16g.51139092A>GCA495779910SALL1c.3130T>C (p.Leu1044=)
c.2839T>C (p.Leu947=)
c.77-1540T>C (n.77-1540T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139092A>TCA395881828SALL1c.3130T>A (p.Leu1044Met)
c.2839T>A (p.Leu947Met)
c.77-1540T>A (n.77-1540T>A)
16g.51139093A=CA2222017403SALL1c.3129T= (p.Asn1043=)
c.2838T= (p.Asn946=)
c.77-1541T= (n.77-1541T=)
16g.51139093A>CCA395881830SALL1c.3129T>G (p.Asn1043Lys)
c.2838T>G (p.Asn946Lys)
c.77-1541T>G (n.77-1541T>G)
16g.51139093A>GCA495779914SALL1c.3129T>C (p.Asn1043=)
c.2838T>C (p.Asn946=)
c.77-1541T>C (n.77-1541T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139093A>TCA395881831SALL1c.3129T>A (p.Asn1043Lys)
c.2838T>A (p.Asn946Lys)
c.77-1541T>A (n.77-1541T>A)
16g.51139093_51139094delCA2739266761SALL1c.3128_3129del (p.Asn1043IlefsTer19)
c.2837_2838del (p.Asn946IlefsTer19)
c.77-1542_77-1541del (n.77-1542_77-1541del)
ClinVar
16g.51139094T>ACA395881835SALL1c.3128A>T (p.Asn1043Ile)
c.2837A>T (p.Asn946Ile)
c.77-1542A>T (n.77-1542A>T)
16g.51139094T>CCA395881838SALL1c.3128A>G (p.Asn1043Ser)
c.2837A>G (p.Asn946Ser)
c.77-1542A>G (n.77-1542A>G)
16g.51139094T>GCA395881833SALL1c.3128A>C (p.Asn1043Thr)
c.2837A>C (p.Asn946Thr)
c.77-1542A>C (n.77-1542A>C)
16g.51139095T>ACA395881843SALL1c.3127A>T (p.Asn1043Tyr)
c.2836A>T (p.Asn946Tyr)
c.77-1543A>T (n.77-1543A>T)
16g.51139095T>CCA395881841SALL1c.3127A>G (p.Asn1043Asp)
c.2836A>G (p.Asn946Asp)
c.77-1543A>G (n.77-1543A>G)
16g.51139095T>GCA395881847SALL1c.3127A>C (p.Asn1043His)
c.2836A>C (p.Asn946His)
c.77-1543A>C (n.77-1543A>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139095T=CA2222017406SALL1c.3127A= (p.Asn1043=)
c.2836A= (p.Asn946=)
c.77-1543A= (n.77-1543A=)
16g.51139096A>CCA495779918SALL1c.3126T>G (p.Gly1042=)
c.2835T>G (p.Gly945=)
c.77-1544T>G (n.77-1544T>G)
16g.51139096A>GCA495779919SALL1c.3126T>C (p.Gly1042=)
c.2835T>C (p.Gly945=)
c.77-1544T>C (n.77-1544T>C)
16g.51139096A>TCA495779920SALL1c.3126T>A (p.Gly1042=)
c.2835T>A (p.Gly945=)
c.77-1544T>A (n.77-1544T>A)
16g.51139097C>ACA395881849SALL1c.3125G>T (p.Gly1042Val)
c.2834G>T (p.Gly945Val)
c.77-1545G>T (n.77-1545G>T)
16g.51139097C>GCA395881855SALL1c.3125G>C (p.Gly1042Ala)
c.2834G>C (p.Gly945Ala)
c.77-1545G>C (n.77-1545G>C)
16g.51139097C>TCA395881858SALL1c.3125G>A (p.Gly1042Asp)
c.2834G>A (p.Gly945Asp)
c.77-1545G>A (n.77-1545G>A)
16g.51139098C>ACA281300828SALL1c.3124G>T (p.Gly1042Cys)
c.2833G>T (p.Gly945Cys)
c.77-1546G>T (n.77-1546G>T)
dbSNP
16g.51139098C=CA2222017411SALL1c.3124G= (p.Gly1042=)
c.2833G= (p.Gly945=)
c.77-1546G= (n.77-1546G=)
16g.51139098C>GCA395881862SALL1c.3124G>C (p.Gly1042Arg)
c.2833G>C (p.Gly945Arg)
c.77-1546G>C (n.77-1546G>C)
16g.51139098C>TCA395881863SALL1c.3124G>A (p.Gly1042Ser)
c.2833G>A (p.Gly945Ser)
c.77-1546G>A (n.77-1546G>A)
gnomAD v4
16g.51139099C>ACA395881864SALL1c.3123G>T (p.Lys1041Asn)
c.2832G>T (p.Lys944Asn)
c.77-1547G>T (n.77-1547G>T)
16g.51139099C>GCA395881865SALL1c.3123G>C (p.Lys1041Asn)
c.2832G>C (p.Lys944Asn)
c.77-1547G>C (n.77-1547G>C)
16g.51139099C>TCA495779926SALL1c.3123G>A (p.Lys1041=)
c.2832G>A (p.Lys944=)
c.77-1547G>A (n.77-1547G>A)
16g.51139100T>ACA395881866SALL1c.3122A>T (p.Lys1041Met)
c.2831A>T (p.Lys944Met)
c.77-1548A>T (n.77-1548A>T)
16g.51139100T>CCA395881867SALL1c.3122A>G (p.Lys1041Arg)
c.2831A>G (p.Lys944Arg)
c.77-1548A>G (n.77-1548A>G)
16g.51139100T>GCA395881868SALL1c.3122A>C (p.Lys1041Thr)
c.2831A>C (p.Lys944Thr)
c.77-1548A>C (n.77-1548A>C)
16g.51139101T>ACA395881871SALL1c.3121A>T (p.Lys1041Ter)
c.2830A>T (p.Lys944Ter)
c.77-1549A>T (n.77-1549A>T)
16g.51139101T>CCA395881870SALL1c.3121A>G (p.Lys1041Glu)
c.2830A>G (p.Lys944Glu)
c.77-1549A>G (n.77-1549A>G)
16g.51139101T>GCA395881869SALL1c.3121A>C (p.Lys1041Gln)
c.2830A>C (p.Lys944Gln)
c.77-1549A>C (n.77-1549A>C)
16g.51139102T>ACA495779931SALL1c.3120A>T (p.Thr1040=)
c.2829A>T (p.Thr943=)
c.77-1550A>T (n.77-1550A>T)
16g.51139102T>CCA241500SALL1c.3120A>G (p.Thr1040=)
c.2829A>G (p.Thr943=)
c.77-1550A>G (n.77-1550A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139102T>GCA495779934SALL1c.3120A>C (p.Thr1040=)
c.2829A>C (p.Thr943=)
c.77-1550A>C (n.77-1550A>C)
16g.51139102T=CA2222017418SALL1c.3120A= (p.Thr1040=)
c.2829A= (p.Thr943=)
c.77-1550A= (n.77-1550A=)
16g.51139103G>ACA395881872SALL1c.3119C>T (p.Thr1040Ile)
c.2828C>T (p.Thr943Ile)
c.77-1551C>T (n.77-1551C>T)
16g.51139103G>CCA395881873SALL1c.3119C>G (p.Thr1040Arg)
c.2828C>G (p.Thr943Arg)
c.77-1551C>G (n.77-1551C>G)
16g.51139103G>TCA395881874SALL1c.3119C>A (p.Thr1040Lys)
c.2828C>A (p.Thr943Lys)
c.77-1551C>A (n.77-1551C>A)
16g.51139104T>ACA395881875SALL1c.3118A>T (p.Thr1040Ser)
c.2827A>T (p.Thr943Ser)
c.77-1552A>T (n.77-1552A>T)
16g.51139104T>CCA395881876SALL1c.3118A>G (p.Thr1040Ala)
c.2827A>G (p.Thr943Ala)
c.77-1552A>G (n.77-1552A>G)
16g.51139104T>GCA395881877SALL1c.3118A>C (p.Thr1040Pro)
c.2827A>C (p.Thr943Pro)
c.77-1552A>C (n.77-1552A>C)
16g.51139105G>ACA495779941SALL1c.3117C>T (p.Ser1039=)
c.2826C>T (p.Ser942=)
c.77-1553C>T (n.77-1553C>T)
ClinVar
16g.51139105G>CCA495779940SALL1c.3117C>G (p.Ser1039=)
c.2826C>G (p.Ser942=)
c.77-1553C>G (n.77-1553C>G)
16g.51139105G>TCA495779939SALL1c.3117C>A (p.Ser1039=)
c.2826C>A (p.Ser942=)
c.77-1553C>A (n.77-1553C>A)
16g.51139106G>ACA281300833SALL1c.3116C>T (p.Ser1039Phe)
c.2825C>T (p.Ser942Phe)
c.77-1554C>T (n.77-1554C>T)
dbSNP COSMIC
16g.51139106G>CCA395881878SALL1c.3116C>G (p.Ser1039Cys)
c.2825C>G (p.Ser942Cys)
c.77-1554C>G (n.77-1554C>G)
16g.51139106G=CA2222017423SALL1c.3116C= (p.Ser1039=)
c.2825C= (p.Ser942=)
c.77-1554C= (n.77-1554C=)
16g.51139106G>TCA395881879SALL1c.3116C>A (p.Ser1039Tyr)
c.2825C>A (p.Ser942Tyr)
c.77-1554C>A (n.77-1554C>A)
16g.51139107A>CCA395881883SALL1c.3115T>G (p.Ser1039Ala)
c.2824T>G (p.Ser942Ala)
c.77-1555T>G (n.77-1555T>G)
16g.51139107A>GCA395881884SALL1c.3115T>C (p.Ser1039Pro)
c.2824T>C (p.Ser942Pro)
c.77-1555T>C (n.77-1555T>C)
16g.51139107A>TCA395881886SALL1c.3115T>A (p.Ser1039Thr)
c.2824T>A (p.Ser942Thr)
c.77-1555T>A (n.77-1555T>A)
16g.51139108A>CCA395881897SALL1c.3114T>G (p.Phe1038Leu)
c.2823T>G (p.Phe941Leu)
c.77-1556T>G (n.77-1556T>G)
16g.51139108A>GCA495779946SALL1c.3114T>C (p.Phe1038=)
c.2823T>C (p.Phe941=)
c.77-1556T>C (n.77-1556T>C)
16g.51139108A>TCA395881887SALL1c.3114T>A (p.Phe1038Leu)
c.2823T>A (p.Phe941Leu)
c.77-1556T>A (n.77-1556T>A)
16g.51139109A>CCA395881898SALL1c.3113T>G (p.Phe1038Cys)
c.2822T>G (p.Phe941Cys)
c.77-1557T>G (n.77-1557T>G)
16g.51139109A>GCA395881899SALL1c.3113T>C (p.Phe1038Ser)
c.2822T>C (p.Phe941Ser)
c.77-1557T>C (n.77-1557T>C)
16g.51139109A>TCA395881900SALL1c.3113T>A (p.Phe1038Tyr)
c.2822T>A (p.Phe941Tyr)
c.77-1557T>A (n.77-1557T>A)
16g.51139110A>CCA395881902SALL1c.3112T>G (p.Phe1038Val)
c.2821T>G (p.Phe941Val)
c.77-1558T>G (n.77-1558T>G)
16g.51139110A>GCA395881903SALL1c.3112T>C (p.Phe1038Leu)
c.2821T>C (p.Phe941Leu)
c.77-1558T>C (n.77-1558T>C)
16g.51139110A>TCA395881905SALL1c.3112T>A (p.Phe1038Ile)
c.2821T>A (p.Phe941Ile)
c.77-1558T>A (n.77-1558T>A)

Number of alleles fetched