Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51138972_51138978del | CA2695223340 | SALL1 | c.3249_3255del (p.Leu1084ArgfsTer?) c.2958_2964del (p.Leu987ArgfsTer?) c.77-1421_77-1415del (n.77-1421_77-1415del) | |
16 | g.51138976T>A | CA495779954 | SALL1 | c.3246A>T (p.Ser1082=) c.2955A>T (p.Ser985=) c.77-1424A>T (n.77-1424A>T) | |
16 | g.51138976T>C | CA495779955 | SALL1 | c.3246A>G (p.Ser1082=) c.2955A>G (p.Ser985=) c.77-1424A>G (n.77-1424A>G) | |
16 | g.51138976T>G | CA495779956 | SALL1 | c.3246A>C (p.Ser1082=) c.2955A>C (p.Ser985=) c.77-1424A>C (n.77-1424A>C) | |
16 | g.51138977G>A | CA8052967 | SALL1 | c.3245C>T (p.Ser1082Leu) c.2954C>T (p.Ser985Leu) c.77-1425C>T (n.77-1425C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138977G>C | CA395881162 | SALL1 | c.3245C>G (p.Ser1082Ter) c.2954C>G (p.Ser985Ter) c.77-1425C>G (n.77-1425C>G) | |
16 | g.51138977G= | CA2222017133 | SALL1 | c.3245C= (p.Ser1082=) c.2954C= (p.Ser985=) c.77-1425C= (n.77-1425C=) | |
16 | g.51138977G>T | CA395881165 | SALL1 | c.3245C>A (p.Ser1082Ter) c.2954C>A (p.Ser985Ter) c.77-1425C>A (n.77-1425C>A) | |
16 | g.51138977_51138980delinsGACA | CA2222017136 | SALL1 | c.3242_3245delinsTGTC (p.Leu1081=) c.2951_2954delinsTGTC (p.Leu984=) c.77-1428_77-1425delinsTGTC (n.77-1428_77-1425delinsTGTC) | |
16 | g.51138978A>C | CA395881167 | SALL1 | c.3244T>G (p.Ser1082Ala) c.2953T>G (p.Ser985Ala) c.77-1426T>G (n.77-1426T>G) | |
16 | g.51138978A>G | CA395881168 | SALL1 | c.3244T>C (p.Ser1082Pro) c.2953T>C (p.Ser985Pro) c.77-1426T>C (n.77-1426T>C) | |
16 | g.51138978A>T | CA395881170 | SALL1 | c.3244T>A (p.Ser1082Thr) c.2953T>A (p.Ser985Thr) c.77-1426T>A (n.77-1426T>A) | |
16 | g.51138980_51138982del | CA622654493 | SALL1 | c.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 |
16 | g.51138979C>A | CA395881180 | SALL1 | c.3243G>T (p.Leu1081Phe) c.2952G>T (p.Leu984Phe) c.77-1427G>T (n.77-1427G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138979C= | CA2222017144 | SALL1 | c.3243G= (p.Leu1081=) c.2952G= (p.Leu984=) c.77-1427G= (n.77-1427G=) | |
16 | g.51138979C>G | CA395881179 | SALL1 | c.3243G>C (p.Leu1081Phe) c.2952G>C (p.Leu984Phe) c.77-1427G>C (n.77-1427G>C) | |
16 | g.51138979C>T | CA495779958 | SALL1 | c.3243G>A (p.Leu1081=) c.2952G>A (p.Leu984=) c.77-1427G>A (n.77-1427G>A) | |
16 | g.51138980A= | CA2222017150 | SALL1 | c.3242T= (p.Leu1081=) c.2951T= (p.Leu984=) c.77-1428T= (n.77-1428T=) | |
16 | g.51138980A>C | CA395881182 | SALL1 | c.3242T>G (p.Leu1081Trp) c.2951T>G (p.Leu984Trp) c.77-1428T>G (n.77-1428T>G) | |
16 | g.51138980A>G | CA395881184 | SALL1 | c.3242T>C (p.Leu1081Ser) c.2951T>C (p.Leu984Ser) c.77-1428T>C (n.77-1428T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138980A>T | CA395881186 | SALL1 | c.3242T>A (p.Leu1081Ter) c.2951T>A (p.Leu984Ter) c.77-1428T>A (n.77-1428T>A) | |
16 | g.51138981A>C | CA395881188 | SALL1 | c.3241T>G (p.Leu1081Val) c.2950T>G (p.Leu984Val) c.77-1429T>G (n.77-1429T>G) | |
16 | g.51138981A>G | CA495779961 | SALL1 | c.3241T>C (p.Leu1081=) c.2950T>C (p.Leu984=) c.77-1429T>C (n.77-1429T>C) | |
16 | g.51138981A>T | CA395881191 | SALL1 | c.3241T>A (p.Leu1081Met) c.2950T>A (p.Leu984Met) c.77-1429T>A (n.77-1429T>A) | |
16 | g.51138982C>A | CA495779963 | SALL1 | c.3240G>T (p.Ser1080=) c.2949G>T (p.Ser983=) c.77-1430G>T (n.77-1430G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51138982C= | CA2222017155 | SALL1 | c.3240G= (p.Ser1080=) c.2949G= (p.Ser983=) c.77-1430G= (n.77-1430G=) | |
16 | g.51138982C>G | CA495779962 | SALL1 | c.3240G>C (p.Ser1080=) c.2949G>C (p.Ser983=) c.77-1430G>C (n.77-1430G>C) | |
16 | g.51138982C>T | CA8052968 | SALL1 | c.3240G>A (p.Ser1080=) c.2949G>A (p.Ser983=) c.77-1430G>A (n.77-1430G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138983G>A | CA8052969 | SALL1 | c.3239C>T (p.Ser1080Leu) c.2948C>T (p.Ser983Leu) c.77-1431C>T (n.77-1431C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138983G>C | CA395881200 | SALL1 | c.3239C>G (p.Ser1080Trp) c.2948C>G (p.Ser983Trp) c.77-1431C>G (n.77-1431C>G) | |
16 | g.51138983G= | CA2222017163 | SALL1 | c.3239C= (p.Ser1080=) c.2948C= (p.Ser983=) c.77-1431C= (n.77-1431C=) | |
16 | g.51138983G>T | CA395881197 | SALL1 | c.3239C>A (p.Ser1080Ter) c.2948C>A (p.Ser983Ter) c.77-1431C>A (n.77-1431C>A) | |
16 | g.51138984A= | CA2222017169 | SALL1 | c.3238T= (p.Ser1080=) c.2947T= (p.Ser983=) c.77-1432T= (n.77-1432T=) | |
16 | g.51138984A>C | CA395881202 | SALL1 | c.3238T>G (p.Ser1080Ala) c.2947T>G (p.Ser983Ala) c.77-1432T>G (n.77-1432T>G) | |
16 | g.51138984A>G | CA8052970 | SALL1 | c.3238T>C (p.Ser1080Pro) c.2947T>C (p.Ser983Pro) c.77-1432T>C (n.77-1432T>C) | dbSNP ExAC gnomAD v2 |
16 | g.51138984A>T | CA395881205 | SALL1 | c.3238T>A (p.Ser1080Thr) c.2947T>A (p.Ser983Thr) c.77-1432T>A (n.77-1432T>A) | |
16 | g.51138985G>A | CA495779965 | SALL1 | c.3237C>T (p.Asn1079=) c.2946C>T (p.Asn982=) c.77-1433C>T (n.77-1433C>T) | dbSNP |
16 | g.51138985G>C | CA395881208 | SALL1 | c.3237C>G (p.Asn1079Lys) c.2946C>G (p.Asn982Lys) c.77-1433C>G (n.77-1433C>G) | |
16 | g.51138985G= | CA2222017176 | SALL1 | c.3237C= (p.Asn1079=) c.2946C= (p.Asn982=) c.77-1433C= (n.77-1433C=) | |
16 | g.51138985G>T | CA395881209 | SALL1 | c.3237C>A (p.Asn1079Lys) c.2946C>A (p.Asn982Lys) c.77-1433C>A (n.77-1433C>A) | |
16 | g.51138986T>A | CA395881214 | SALL1 | c.3236A>T (p.Asn1079Ile) c.2945A>T (p.Asn982Ile) c.77-1434A>T (n.77-1434A>T) | |
16 | g.51138986T>C | CA395881215 | SALL1 | c.3236A>G (p.Asn1079Ser) c.2945A>G (p.Asn982Ser) c.77-1434A>G (n.77-1434A>G) | |
16 | g.51138986T>G | CA395881216 | SALL1 | c.3236A>C (p.Asn1079Thr) c.2945A>C (p.Asn982Thr) c.77-1434A>C (n.77-1434A>C) | gnomAD v4 |
16 | g.51138987T>A | CA395881220 | SALL1 | c.3235A>T (p.Asn1079Tyr) c.2944A>T (p.Asn982Tyr) c.77-1435A>T (n.77-1435A>T) | |
16 | g.51138987T>C | CA395881221 | SALL1 | c.3235A>G (p.Asn1079Asp) c.2944A>G (p.Asn982Asp) c.77-1435A>G (n.77-1435A>G) | |
16 | g.51138987T>G | CA395881224 | SALL1 | c.3235A>C (p.Asn1079His) c.2944A>C (p.Asn982His) c.77-1435A>C (n.77-1435A>C) | |
16 | g.51138988G>A | CA495779968 | SALL1 | c.3234C>T (p.Ala1078=) c.2943C>T (p.Ala981=) c.77-1436C>T (n.77-1436C>T) | |
16 | g.51138988G>C | CA495779966 | SALL1 | c.3234C>G (p.Ala1078=) c.2943C>G (p.Ala981=) c.77-1436C>G (n.77-1436C>G) | |
16 | g.51138988G>T | CA495779967 | SALL1 | c.3234C>A (p.Ala1078=) c.2943C>A (p.Ala981=) c.77-1436C>A (n.77-1436C>A) | |
16 | g.51138989G>A | CA395881229 | SALL1 | c.3233C>T (p.Ala1078Val) c.2942C>T (p.Ala981Val) c.77-1437C>T (n.77-1437C>T) | dbSNP gnomAD v2 gnomAD v4 |