Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51138817G>A | CA495779743 | SALL1 | c.3405C>T (p.Tyr1135=) c.3114C>T (p.Tyr1038=) c.77-1265C>T (n.77-1265C>T) | |
16 | g.51138817G>C | CA395880296 | SALL1 | c.3405C>G (p.Tyr1135Ter) c.3114C>G (p.Tyr1038Ter) c.77-1265C>G (n.77-1265C>G) | |
16 | g.51138817G>T | CA395880299 | SALL1 | c.3405C>A (p.Tyr1135Ter) c.3114C>A (p.Tyr1038Ter) c.77-1265C>A (n.77-1265C>A) | |
16 | g.51138818T>A | CA395880301 | SALL1 | c.3404A>T (p.Tyr1135Phe) c.3113A>T (p.Tyr1038Phe) c.77-1266A>T (n.77-1266A>T) | |
16 | g.51138818T>C | CA395880302 | SALL1 | c.3404A>G (p.Tyr1135Cys) c.3113A>G (p.Tyr1038Cys) c.77-1266A>G (n.77-1266A>G) | dbSNP gnomAD v4 |
16 | g.51138818T>G | CA395880305 | SALL1 | c.3404A>C (p.Tyr1135Ser) c.3113A>C (p.Tyr1038Ser) c.77-1266A>C (n.77-1266A>C) | |
16 | g.51138818T= | CA2222016802 | SALL1 | c.3404A= (p.Tyr1135=) c.3113A= (p.Tyr1038=) c.77-1266A= (n.77-1266A=) | |
16 | g.51138819A= | CA2222016808 | SALL1 | c.3403T= (p.Tyr1135=) c.3112T= (p.Tyr1038=) c.77-1267T= (n.77-1267T=) | |
16 | g.51138819A>C | CA395880309 | SALL1 | c.3403T>G (p.Tyr1135Asp) c.3112T>G (p.Tyr1038Asp) c.77-1267T>G (n.77-1267T>G) | |
16 | g.51138819A>G | CA8052931 | SALL1 | c.3403T>C (p.Tyr1135His) c.3112T>C (p.Tyr1038His) c.77-1267T>C (n.77-1267T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138819A>T | CA395880313 | SALL1 | c.3403T>A (p.Tyr1135Asn) c.3112T>A (p.Tyr1038Asn) c.77-1267T>A (n.77-1267T>A) | |
16 | g.51138820G>A | CA8052932 | SALL1 | c.3402C>T (p.His1134=) c.3111C>T (p.His1037=) c.77-1268C>T (n.77-1268C>T) | dbSNP ExAC gnomAD v4 |
16 | g.51138820G>C | CA395880321 | SALL1 | c.3402C>G (p.His1134Gln) c.3111C>G (p.His1037Gln) c.77-1268C>G (n.77-1268C>G) | gnomAD v4 |
16 | g.51138820G= | CA2222016812 | SALL1 | c.3402C= (p.His1134=) c.3111C= (p.His1037=) c.77-1268C= (n.77-1268C=) | |
16 | g.51138820G>T | CA395880317 | SALL1 | c.3402C>A (p.His1134Gln) c.3111C>A (p.His1037Gln) c.77-1268C>A (n.77-1268C>A) | |
16 | g.51138821T>A | CA395880324 | SALL1 | c.3401A>T (p.His1134Leu) c.3110A>T (p.His1037Leu) c.77-1269A>T (n.77-1269A>T) | |
16 | g.51138821T>C | CA395880329 | SALL1 | c.3401A>G (p.His1134Arg) c.3110A>G (p.His1037Arg) c.77-1269A>G (n.77-1269A>G) | |
16 | g.51138821T>G | CA395880326 | SALL1 | c.3401A>C (p.His1134Pro) c.3110A>C (p.His1037Pro) c.77-1269A>C (n.77-1269A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138821T= | CA2222016818 | SALL1 | c.3401A= (p.His1134=) c.3110A= (p.His1037=) c.77-1269A= (n.77-1269A=) | |
16 | g.51138822G>A | CA395880331 | SALL1 | c.3400C>T (p.His1134Tyr) c.3109C>T (p.His1037Tyr) c.77-1270C>T (n.77-1270C>T) | |
16 | g.51138822G>C | CA395880333 | SALL1 | c.3400C>G (p.His1134Asp) c.3109C>G (p.His1037Asp) c.77-1270C>G (n.77-1270C>G) | |
16 | g.51138822G= | CA2222016819 | SALL1 | c.3400C= (p.His1134=) c.3109C= (p.His1037=) c.77-1270C= (n.77-1270C=) | |
16 | g.51138822G>T | CA8052933 | SALL1 | c.3400C>A (p.His1134Asn) c.3109C>A (p.His1037Asn) c.77-1270C>A (n.77-1270C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138823C>A | CA395880335 | SALL1 | c.3399G>T (p.Gln1133His) c.3108G>T (p.Gln1036His) c.77-1271G>T (n.77-1271G>T) | |
16 | g.51138823C= | CA2222016823 | SALL1 | c.3399G= (p.Gln1133=) c.3108G= (p.Gln1036=) c.77-1271G= (n.77-1271G=) | |
16 | g.51138823C>G | CA395880337 | SALL1 | c.3399G>C (p.Gln1133His) c.3108G>C (p.Gln1036His) c.77-1271G>C (n.77-1271G>C) | dbSNP |
16 | g.51138823C>T | CA495779750 | SALL1 | c.3399G>A (p.Gln1133=) c.3108G>A (p.Gln1036=) c.77-1271G>A (n.77-1271G>A) | |
16 | g.51138824T>A | CA395880340 | SALL1 | c.3398A>T (p.Gln1133Leu) c.3107A>T (p.Gln1036Leu) c.77-1272A>T (n.77-1272A>T) | |
16 | g.51138824T>C | CA395880342 | SALL1 | c.3398A>G (p.Gln1133Arg) c.3107A>G (p.Gln1036Arg) c.77-1272A>G (n.77-1272A>G) | |
16 | g.51138824T>G | CA395880344 | SALL1 | c.3398A>C (p.Gln1133Pro) c.3107A>C (p.Gln1036Pro) c.77-1272A>C (n.77-1272A>C) | |
16 | g.51138825G>A | CA395880347 | SALL1 | c.3397C>T (p.Gln1133Ter) c.3106C>T (p.Gln1036Ter) c.77-1273C>T (n.77-1273C>T) | |
16 | g.51138825G>C | CA395880349 | SALL1 | c.3397C>G (p.Gln1133Glu) c.3106C>G (p.Gln1036Glu) c.77-1273C>G (n.77-1273C>G) | |
16 | g.51138825G= | CA2222016827 | SALL1 | c.3397C= (p.Gln1133=) c.3106C= (p.Gln1036=) c.77-1273C= (n.77-1273C=) | |
16 | g.51138825G>T | CA8052934 | SALL1 | c.3397C>A (p.Gln1133Lys) c.3106C>A (p.Gln1036Lys) c.77-1273C>A (n.77-1273C>A) | dbSNP ExAC |
16 | g.51138826C>A | CA395880351 | SALL1 | c.3396G>T (p.Lys1132Asn) c.3105G>T (p.Lys1035Asn) c.77-1274G>T (n.77-1274G>T) | |
16 | g.51138826C>G | CA395880352 | SALL1 | c.3396G>C (p.Lys1132Asn) c.3105G>C (p.Lys1035Asn) c.77-1274G>C (n.77-1274G>C) | |
16 | g.51138826C>T | CA495779752 | SALL1 | c.3396G>A (p.Lys1132=) c.3105G>A (p.Lys1035=) c.77-1274G>A (n.77-1274G>A) | |
16 | g.51138827T>A | CA395880357 | SALL1 | c.3395A>T (p.Lys1132Met) c.3104A>T (p.Lys1035Met) c.77-1275A>T (n.77-1275A>T) | dbSNP |
16 | g.51138827T>C | CA8052935 | SALL1 | c.3395A>G (p.Lys1132Arg) c.3104A>G (p.Lys1035Arg) c.77-1275A>G (n.77-1275A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138827T>G | CA395880355 | SALL1 | c.3395A>C (p.Lys1132Thr) c.3104A>C (p.Lys1035Thr) c.77-1275A>C (n.77-1275A>C) | |
16 | g.51138827T= | CA2222016832 | SALL1 | c.3395A= (p.Lys1132=) c.3104A= (p.Lys1035=) c.77-1275A= (n.77-1275A=) | |
16 | g.51138828T>A | CA395880359 | SALL1 | c.3394A>T (p.Lys1132Ter) c.3103A>T (p.Lys1035Ter) c.77-1276A>T (n.77-1276A>T) | |
16 | g.51138828T>C | CA395880361 | SALL1 | c.3394A>G (p.Lys1132Glu) c.3103A>G (p.Lys1035Glu) c.77-1276A>G (n.77-1276A>G) | |
16 | g.51138828T>G | CA395880363 | SALL1 | c.3394A>C (p.Lys1132Gln) c.3103A>C (p.Lys1035Gln) c.77-1276A>C (n.77-1276A>C) | |
16 | g.51138829G>A | CA495779753 | SALL1 | c.3393C>T (p.Pro1131=) c.3102C>T (p.Pro1034=) c.77-1277C>T (n.77-1277C>T) | |
16 | g.51138829G>C | CA495779754 | SALL1 | c.3393C>G (p.Pro1131=) c.3102C>G (p.Pro1034=) c.77-1277C>G (n.77-1277C>G) | |
16 | g.51138829G= | CA2222016837 | SALL1 | c.3393C= (p.Pro1131=) c.3102C= (p.Pro1034=) c.77-1277C= (n.77-1277C=) | |
16 | g.51138829G>T | CA8052936 | SALL1 | c.3393C>A (p.Pro1131=) c.3102C>A (p.Pro1034=) c.77-1277C>A (n.77-1277C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138830G>A | CA395880367 | SALL1 | c.3392C>T (p.Pro1131Leu) c.3101C>T (p.Pro1034Leu) c.77-1278C>T (n.77-1278C>T) | |
16 | g.51138830G>C | CA395880369 | SALL1 | c.3392C>G (p.Pro1131Arg) c.3101C>G (p.Pro1034Arg) c.77-1278C>G (n.77-1278C>G) |