Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
16 | g.51138989G>C | CA395881232 | SALL1 | c.3233C>G (p.Ala1078Gly) c.2942C>G (p.Ala981Gly) c.77-1437C>G (n.77-1437C>G) | |
16 | g.51138989G= | CA2222017180 | SALL1 | c.3233C= (p.Ala1078=) c.2942C= (p.Ala981=) c.77-1437C= (n.77-1437C=) | |
16 | g.51138989G>T | CA395881226 | SALL1 | c.3233C>A (p.Ala1078Asp) c.2942C>A (p.Ala981Asp) c.77-1437C>A (n.77-1437C>A) | |
16 | g.51138990C>A | CA395881234 | SALL1 | c.3232G>T (p.Ala1078Ser) c.2941G>T (p.Ala981Ser) c.77-1438G>T (n.77-1438G>T) | |
16 | g.51138990C= | CA2222017187 | SALL1 | c.3232G= (p.Ala1078=) c.2941G= (p.Ala981=) c.77-1438G= (n.77-1438G=) | |
16 | g.51138990C>G | CA395881237 | SALL1 | c.3232G>C (p.Ala1078Pro) c.2941G>C (p.Ala981Pro) c.77-1438G>C (n.77-1438G>C) | |
16 | g.51138990C>T | CA8052971 | SALL1 | c.3232G>A (p.Ala1078Thr) c.2941G>A (p.Ala981Thr) c.77-1438G>A (n.77-1438G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138991G>A | CA8052972 | SALL1 | c.3231C>T (p.Pro1077=) c.2940C>T (p.Pro980=) c.77-1439C>T (n.77-1439C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138991G>C | CA495779970 | SALL1 | c.3231C>G (p.Pro1077=) c.2940C>G (p.Pro980=) c.77-1439C>G (n.77-1439C>G) | |
16 | g.51138991G= | CA2222017191 | SALL1 | c.3231C= (p.Pro1077=) c.2940C= (p.Pro980=) c.77-1439C= (n.77-1439C=) | |
16 | g.51138991G>T | CA495779971 | SALL1 | c.3231C>A (p.Pro1077=) c.2940C>A (p.Pro980=) c.77-1439C>A (n.77-1439C>A) | |
16 | g.51138992G>A | CA395881241 | SALL1 | c.3230C>T (p.Pro1077Leu) c.2939C>T (p.Pro980Leu) c.77-1440C>T (n.77-1440C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51138992G>C | CA395881243 | SALL1 | c.3230C>G (p.Pro1077Arg) c.2939C>G (p.Pro980Arg) c.77-1440C>G (n.77-1440C>G) | |
16 | g.51138992G= | CA2222017199 | SALL1 | c.3230C= (p.Pro1077=) c.2939C= (p.Pro980=) c.77-1440C= (n.77-1440C=) | |
16 | g.51138992G>T | CA395881244 | SALL1 | c.3230C>A (p.Pro1077His) c.2939C>A (p.Pro980His) c.77-1440C>A (n.77-1440C>A) | gnomAD v4 |