Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141026_51141104del | CA2695223381 | SALL1 | c.1119_1197del (p.Ser374ArgfsTer17) c.828_906del (p.Ser277ArgfsTer17) c.77-3551_77-3473del (n.77-3551_77-3473del) | |
16 | g.51141055A>C | CA395889256 | SALL1 | c.1167T>G (p.Asn389Lys) c.876T>G (p.Asn292Lys) c.77-3503T>G (n.77-3503T>G) | |
16 | g.51141055A>G | CA495781288 | SALL1 | c.1167T>C (p.Asn389=) c.876T>C (p.Asn292=) c.77-3503T>C (n.77-3503T>C) | |
16 | g.51141055A>T | CA395889257 | SALL1 | c.1167T>A (p.Asn389Lys) c.876T>A (p.Asn292Lys) c.77-3503T>A (n.77-3503T>A) | gnomAD v4 |
16 | g.51141056T>A | CA395889258 | SALL1 | c.1166A>T (p.Asn389Ile) c.875A>T (p.Asn292Ile) c.77-3504A>T (n.77-3504A>T) | |
16 | g.51141056T>C | CA395889259 | SALL1 | c.1166A>G (p.Asn389Ser) c.875A>G (p.Asn292Ser) c.77-3504A>G (n.77-3504A>G) | |
16 | g.51141056T>G | CA395889260 | SALL1 | c.1166A>C (p.Asn389Thr) c.875A>C (p.Asn292Thr) c.77-3504A>C (n.77-3504A>C) | |
16 | g.51141057T>A | CA395889262 | SALL1 | c.1165A>T (p.Asn389Tyr) c.874A>T (p.Asn292Tyr) c.77-3505A>T (n.77-3505A>T) | |
16 | g.51141057T>C | CA8053326 | SALL1 | c.1165A>G (p.Asn389Asp) c.874A>G (p.Asn292Asp) c.77-3505A>G (n.77-3505A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141057T>G | CA395889261 | SALL1 | c.1165A>C (p.Asn389His) c.874A>C (p.Asn292His) c.77-3505A>C (n.77-3505A>C) | |
16 | g.51141057T= | CA2222021289 | SALL1 | c.1165A= (p.Asn389=) c.874A= (p.Asn292=) c.77-3505A= (n.77-3505A=) | |
16 | g.51141058A>C | CA495781291 | SALL1 | c.1164T>G (p.Ser388=) c.873T>G (p.Ser291=) c.77-3506T>G (n.77-3506T>G) | |
16 | g.51141058A>G | CA495781293 | SALL1 | c.1164T>C (p.Ser388=) c.873T>C (p.Ser291=) c.77-3506T>C (n.77-3506T>C) | |
16 | g.51141058A>T | CA495781294 | SALL1 | c.1164T>A (p.Ser388=) c.873T>A (p.Ser291=) c.77-3506T>A (n.77-3506T>A) | |
16 | g.51141059G>A | CA395889263 | SALL1 | c.1163C>T (p.Ser388Phe) c.872C>T (p.Ser291Phe) c.77-3507C>T (n.77-3507C>T) | gnomAD v4 |
16 | g.51141059G>C | CA395889264 | SALL1 | c.1163C>G (p.Ser388Cys) c.872C>G (p.Ser291Cys) c.77-3507C>G (n.77-3507C>G) | COSMIC |
16 | g.51141059G>T | CA395889265 | SALL1 | c.1163C>A (p.Ser388Tyr) c.872C>A (p.Ser291Tyr) c.77-3507C>A (n.77-3507C>A) | |
16 | g.51141060A>C | CA395889266 | SALL1 | c.1162T>G (p.Ser388Ala) c.871T>G (p.Ser291Ala) c.77-3508T>G (n.77-3508T>G) | |
16 | g.51141060A>G | CA395889267 | SALL1 | c.1162T>C (p.Ser388Pro) c.871T>C (p.Ser291Pro) c.77-3508T>C (n.77-3508T>C) | |
16 | g.51141060A>T | CA395889268 | SALL1 | c.1162T>A (p.Ser388Thr) c.871T>A (p.Ser291Thr) c.77-3508T>A (n.77-3508T>A) | |
16 | g.51141060_51141061del | CA2575992065 | SALL1 | c.1161_1162del (p.Ser388Ter) c.870_871del (p.Ser291Ter) c.77-3509_77-3508del (n.77-3509_77-3508del) | |
16 | g.51141061C>A | CA8053327 | SALL1 | c.1161G>T (p.Ala387=) c.870G>T (p.Ala290=) c.77-3509G>T (n.77-3509G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141061C= | CA2222021294 | SALL1 | c.1161G= (p.Ala387=) c.870G= (p.Ala290=) c.77-3509G= (n.77-3509G=) | |
16 | g.51141061C>G | CA495781299 | SALL1 | c.1161G>C (p.Ala387=) c.870G>C (p.Ala290=) c.77-3509G>C (n.77-3509G>C) | gnomAD v4 |
16 | g.51141061C>T | CA8053328 | SALL1 | c.1161G>A (p.Ala387=) c.870G>A (p.Ala290=) c.77-3509G>A (n.77-3509G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141062G>A | CA8053329 | SALL1 | c.1160C>T (p.Ala387Val) c.869C>T (p.Ala290Val) c.77-3510C>T (n.77-3510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141062G>C | CA8053330 | SALL1 | c.1160C>G (p.Ala387Gly) c.869C>G (p.Ala290Gly) c.77-3510C>G (n.77-3510C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141062G= | CA2222021298 | SALL1 | c.1160C= (p.Ala387=) c.869C= (p.Ala290=) c.77-3510C= (n.77-3510C=) | |
16 | g.51141062G>T | CA395889269 | SALL1 | c.1160C>A (p.Ala387Glu) c.869C>A (p.Ala290Glu) c.77-3510C>A (n.77-3510C>A) | |
16 | g.51141063C>A | CA395889270 | SALL1 | c.1159G>T (p.Ala387Ser) c.868G>T (p.Ala290Ser) c.77-3511G>T (n.77-3511G>T) | |
16 | g.51141063C>G | CA395889271 | SALL1 | c.1159G>C (p.Ala387Pro) c.868G>C (p.Ala290Pro) c.77-3511G>C (n.77-3511G>C) | |
16 | g.51141063C>T | CA395889272 | SALL1 | c.1159G>A (p.Ala387Thr) c.868G>A (p.Ala290Thr) c.77-3511G>A (n.77-3511G>A) | gnomAD v4 |
16 | g.51141064A= | CA2222021305 | SALL1 | c.1158T= (p.Pro386=) c.867T= (p.Pro289=) c.77-3512T= (n.77-3512T=) | |
16 | g.51141064A>C | CA495781305 | SALL1 | c.1158T>G (p.Pro386=) c.867T>G (p.Pro289=) c.77-3512T>G (n.77-3512T>G) | |
16 | g.51141064A>G | CA495781303 | SALL1 | c.1158T>C (p.Pro386=) c.867T>C (p.Pro289=) c.77-3512T>C (n.77-3512T>C) | gnomAD v4 |
16 | g.51141064A>T | CA495781304 | SALL1 | c.1158T>A (p.Pro386=) c.867T>A (p.Pro289=) c.77-3512T>A (n.77-3512T>A) | dbSNP gnomAD v4 |
16 | g.51141065G>A | CA395889277 | SALL1 | c.1157C>T (p.Pro386Leu) c.866C>T (p.Pro289Leu) c.77-3513C>T (n.77-3513C>T) | |
16 | g.51141065G>C | CA395889276 | SALL1 | c.1157C>G (p.Pro386Arg) c.866C>G (p.Pro289Arg) c.77-3513C>G (n.77-3513C>G) | |
16 | g.51141065G>T | CA395889274 | SALL1 | c.1157C>A (p.Pro386His) c.866C>A (p.Pro289His) c.77-3513C>A (n.77-3513C>A) | |
16 | g.51141066G>A | CA395889279 | SALL1 | c.1156C>T (p.Pro386Ser) c.865C>T (p.Pro289Ser) c.77-3514C>T (n.77-3514C>T) | |
16 | g.51141066G>C | CA395889280 | SALL1 | c.1156C>G (p.Pro386Ala) c.865C>G (p.Pro289Ala) c.77-3514C>G (n.77-3514C>G) | |
16 | g.51141066G>T | CA395889282 | SALL1 | c.1156C>A (p.Pro386Thr) c.865C>A (p.Pro289Thr) c.77-3514C>A (n.77-3514C>A) | |
16 | g.51141067A>C | CA395889285 | SALL1 | c.1155T>G (p.Ser385Arg) c.864T>G (p.Ser288Arg) c.77-3515T>G (n.77-3515T>G) | |
16 | g.51141067A>G | CA495781309 | SALL1 | c.1155T>C (p.Ser385=) c.864T>C (p.Ser288=) c.77-3515T>C (n.77-3515T>C) | |
16 | g.51141067A>T | CA395889287 | SALL1 | c.1155T>A (p.Ser385Arg) c.864T>A (p.Ser288Arg) c.77-3515T>A (n.77-3515T>A) | |
16 | g.51141068C>A | CA395889290 | SALL1 | c.1154G>T (p.Ser385Ile) c.863G>T (p.Ser288Ile) c.77-3516G>T (n.77-3516G>T) | |
16 | g.51141068C= | CA2222021306 | SALL1 | c.1154G= (p.Ser385=) c.863G= (p.Ser288=) c.77-3516G= (n.77-3516G=) | |
16 | g.51141068C>G | CA395889292 | SALL1 | c.1154G>C (p.Ser385Thr) c.863G>C (p.Ser288Thr) c.77-3516G>C (n.77-3516G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141068C>T | CA395889299 | SALL1 | c.1154G>A (p.Ser385Asn) c.863G>A (p.Ser288Asn) c.77-3516G>A (n.77-3516G>A) | COSMIC |
16 | g.51141069T>A | CA395889301 | SALL1 | c.1153A>T (p.Ser385Cys) c.862A>T (p.Ser288Cys) c.77-3517A>T (n.77-3517A>T) |