Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.51138830G>T | CA395880370 | SALL1 | c.3392C>A (p.Pro1131His) c.3101C>A (p.Pro1034His) c.77-1278C>A (n.77-1278C>A) | |
16 | g.51138831G>A | CA395880373 | SALL1 | c.3391C>T (p.Pro1131Ser) c.3100C>T (p.Pro1034Ser) c.77-1279C>T (n.77-1279C>T) | |
16 | g.51138831G>C | CA395880375 | SALL1 | c.3391C>G (p.Pro1131Ala) c.3100C>G (p.Pro1034Ala) c.77-1279C>G (n.77-1279C>G) | |
16 | g.51138831G>T | CA395880377 | SALL1 | c.3391C>A (p.Pro1131Thr) c.3100C>A (p.Pro1034Thr) c.77-1279C>A (n.77-1279C>A) | |
16 | g.51138832A= | CA2222016839 | SALL1 | c.3390T= (p.Thr1130=) c.3099T= (p.Thr1033=) c.77-1280T= (n.77-1280T=) | |
16 | g.51138832A>C | CA495779756 | SALL1 | c.3390T>G (p.Thr1130=) c.3099T>G (p.Thr1033=) c.77-1280T>G (n.77-1280T>G) | |
16 | g.51138832A>G | CA281300585 | SALL1 | c.3390T>C (p.Thr1130=) c.3099T>C (p.Thr1033=) c.77-1280T>C (n.77-1280T>C) | dbSNP |
16 | g.51138832A>T | CA495779757 | SALL1 | c.3390T>A (p.Thr1130=) c.3099T>A (p.Thr1033=) c.77-1280T>A (n.77-1280T>A) | gnomAD v4 |
16 | g.51138833G>A | CA395880379 | SALL1 | c.3389C>T (p.Thr1130Ile) c.3098C>T (p.Thr1033Ile) c.77-1281C>T (n.77-1281C>T) | |
16 | g.51138833G>C | CA395880381 | SALL1 | c.3389C>G (p.Thr1130Ser) c.3098C>G (p.Thr1033Ser) c.77-1281C>G (n.77-1281C>G) | |
16 | g.51138833G>T | CA395880384 | SALL1 | c.3389C>A (p.Thr1130Asn) c.3098C>A (p.Thr1033Asn) c.77-1281C>A (n.77-1281C>A) | |
16 | g.51138834T>A | CA395880390 | SALL1 | c.3388A>T (p.Thr1130Ser) c.3097A>T (p.Thr1033Ser) c.77-1282A>T (n.77-1282A>T) | |
16 | g.51138834T>C | CA395880388 | SALL1 | c.3388A>G (p.Thr1130Ala) c.3097A>G (p.Thr1033Ala) c.77-1282A>G (n.77-1282A>G) | dbSNP gnomAD v4 |
16 | g.51138834T>G | CA395880386 | SALL1 | c.3388A>C (p.Thr1130Pro) c.3097A>C (p.Thr1033Pro) c.77-1282A>C (n.77-1282A>C) | |
16 | g.51138834T= | CA2222016853 | SALL1 | c.3388A= (p.Thr1130=) c.3097A= (p.Thr1033=) c.77-1282A= (n.77-1282A=) | |
16 | g.51138835T>A | CA395880392 | SALL1 | c.3387A>T (p.Arg1129Ser) c.3096A>T (p.Arg1032Ser) c.77-1283A>T (n.77-1283A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138835T>C | CA495779758 | SALL1 | c.3387A>G (p.Arg1129=) c.3096A>G (p.Arg1032=) c.77-1283A>G (n.77-1283A>G) | |
16 | g.51138835T>G | CA395880394 | SALL1 | c.3387A>C (p.Arg1129Ser) c.3096A>C (p.Arg1032Ser) c.77-1283A>C (n.77-1283A>C) | |
16 | g.51138835T= | CA2222016856 | SALL1 | c.3387A= (p.Arg1129=) c.3096A= (p.Arg1032=) c.77-1283A= (n.77-1283A=) | |
16 | g.51138836C>A | CA395880396 | SALL1 | c.3386G>T (p.Arg1129Ile) c.3095G>T (p.Arg1032Ile) c.77-1284G>T (n.77-1284G>T) | |
16 | g.51138836C>G | CA395880399 | SALL1 | c.3386G>C (p.Arg1129Thr) c.3095G>C (p.Arg1032Thr) c.77-1284G>C (n.77-1284G>C) | |
16 | g.51138836C>T | CA395880401 | SALL1 | c.3386G>A (p.Arg1129Lys) c.3095G>A (p.Arg1032Lys) c.77-1284G>A (n.77-1284G>A) | |
16 | g.51138837T>A | CA395880403 | SALL1 | c.3385A>T (p.Arg1129Ter) c.3094A>T (p.Arg1032Ter) c.77-1285A>T (n.77-1285A>T) | |
16 | g.51138837T>C | CA395880405 | SALL1 | c.3385A>G (p.Arg1129Gly) c.3094A>G (p.Arg1032Gly) c.77-1285A>G (n.77-1285A>G) | |
16 | g.51138837T>G | CA495779760 | SALL1 | c.3385A>C (p.Arg1129=) c.3094A>C (p.Arg1032=) c.77-1285A>C (n.77-1285A>C) | |
16 | g.51138838C>A | CA395880407 | SALL1 | c.3384G>T (p.Arg1128Ser) c.3093G>T (p.Arg1031Ser) c.77-1286G>T (n.77-1286G>T) | |
16 | g.51138838C= | CA2222016860 | SALL1 | c.3384G= (p.Arg1128=) c.3093G= (p.Arg1031=) c.77-1286G= (n.77-1286G=) | |
16 | g.51138838C>G | CA395880409 | SALL1 | c.3384G>C (p.Arg1128Ser) c.3093G>C (p.Arg1031Ser) c.77-1286G>C (n.77-1286G>C) | |
16 | g.51138838C>T | CA495779761 | SALL1 | c.3384G>A (p.Arg1128=) c.3093G>A (p.Arg1031=) c.77-1286G>A (n.77-1286G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138839C>A | CA395880411 | SALL1 | c.3383G>T (p.Arg1128Met) c.3092G>T (p.Arg1031Met) c.77-1287G>T (n.77-1287G>T) | |
16 | g.51138839C= | CA2222016864 | SALL1 | c.3383G= (p.Arg1128=) c.3092G= (p.Arg1031=) c.77-1287G= (n.77-1287G=) | |
16 | g.51138839C>G | CA395880413 | SALL1 | c.3383G>C (p.Arg1128Thr) c.3092G>C (p.Arg1031Thr) c.77-1287G>C (n.77-1287G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51138839C>T | CA395880414 | SALL1 | c.3383G>A (p.Arg1128Lys) c.3092G>A (p.Arg1031Lys) c.77-1287G>A (n.77-1287G>A) | |
16 | g.51138840T>A | CA395880416 | SALL1 | c.3382A>T (p.Arg1128Trp) c.3091A>T (p.Arg1031Trp) c.77-1288A>T (n.77-1288A>T) | gnomAD v4 |
16 | g.51138840T>C | CA395880418 | SALL1 | c.3382A>G (p.Arg1128Gly) c.3091A>G (p.Arg1031Gly) c.77-1288A>G (n.77-1288A>G) | |
16 | g.51138840T>G | CA495779763 | SALL1 | c.3382A>C (p.Arg1128=) c.3091A>C (p.Arg1031=) c.77-1288A>C (n.77-1288A>C) | |
16 | g.51138841G>A | CA495779764 | SALL1 | c.3381C>T (p.Pro1127=) c.3090C>T (p.Pro1030=) c.77-1289C>T (n.77-1289C>T) | |
16 | g.51138841G>C | CA495779765 | SALL1 | c.3381C>G (p.Pro1127=) c.3090C>G (p.Pro1030=) c.77-1289C>G (n.77-1289C>G) | |
16 | g.51138841G>T | CA495779766 | SALL1 | c.3381C>A (p.Pro1127=) c.3090C>A (p.Pro1030=) c.77-1289C>A (n.77-1289C>A) | |
16 | g.51138843del | CA2573054235 | SALL1 | c.3381del (p.Arg1128GlyfsTer?) c.3090del (p.Arg1031GlyfsTer?) c.77-1289del (n.77-1289del) | ClinVar dbSNP |
16 | g.51138842G>A | CA8052937 | SALL1 | c.3380C>T (p.Pro1127Leu) c.3089C>T (p.Pro1030Leu) c.77-1290C>T (n.77-1290C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138842G>C | CA395880422 | SALL1 | c.3380C>G (p.Pro1127Arg) c.3089C>G (p.Pro1030Arg) c.77-1290C>G (n.77-1290C>G) | |
16 | g.51138842G= | CA2222016869 | SALL1 | c.3380C= (p.Pro1127=) c.3089C= (p.Pro1030=) c.77-1290C= (n.77-1290C=) | |
16 | g.51138842G>T | CA395880420 | SALL1 | c.3380C>A (p.Pro1127His) c.3089C>A (p.Pro1030His) c.77-1290C>A (n.77-1290C>A) | |
16 | g.51138843G>A | CA395880424 | SALL1 | c.3379C>T (p.Pro1127Ser) c.3088C>T (p.Pro1030Ser) c.77-1291C>T (n.77-1291C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138843G>C | CA395880426 | SALL1 | c.3379C>G (p.Pro1127Ala) c.3088C>G (p.Pro1030Ala) c.77-1291C>G (n.77-1291C>G) | |
16 | g.51138843G= | CA2222016870 | SALL1 | c.3379C= (p.Pro1127=) c.3088C= (p.Pro1030=) c.77-1291C= (n.77-1291C=) | |
16 | g.51138843G>T | CA395880428 | SALL1 | c.3379C>A (p.Pro1127Thr) c.3088C>A (p.Pro1030Thr) c.77-1291C>A (n.77-1291C>A) | |
16 | g.51138844C>A | CA495779767 | SALL1 | c.3378G>T (p.Leu1126=) c.3087G>T (p.Leu1029=) c.77-1292G>T (n.77-1292G>T) | gnomAD v4 |
16 | g.51138844C>G | CA495779769 | SALL1 | c.3378G>C (p.Leu1126=) c.3087G>C (p.Leu1029=) c.77-1292G>C (n.77-1292G>C) | |
16 | g.51138844C>T | CA495779768 | SALL1 | c.3378G>A (p.Leu1126=) c.3087G>A (p.Leu1029=) c.77-1292G>A (n.77-1292G>A) | |
16 | g.51138845A= | CA2222016872 | SALL1 | c.3377T= (p.Leu1126=) c.3086T= (p.Leu1029=) c.77-1293T= (n.77-1293T=) | |
16 | g.51138845A>C | CA395880430 | SALL1 | c.3377T>G (p.Leu1126Arg) c.3086T>G (p.Leu1029Arg) c.77-1293T>G (n.77-1293T>G) | |
16 | g.51138845A>G | CA395880432 | SALL1 | c.3377T>C (p.Leu1126Pro) c.3086T>C (p.Leu1029Pro) c.77-1293T>C (n.77-1293T>C) | |
16 | g.51138845A>T | CA8052938 | SALL1 | c.3377T>A (p.Leu1126Gln) c.3086T>A (p.Leu1029Gln) c.77-1293T>A (n.77-1293T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138846G>A | CA495779773 | SALL1 | c.3376C>T (p.Leu1126=) c.3085C>T (p.Leu1029=) c.77-1294C>T (n.77-1294C>T) | dbSNP |
16 | g.51138846G>C | CA395880435 | SALL1 | c.3376C>G (p.Leu1126Val) c.3085C>G (p.Leu1029Val) c.77-1294C>G (n.77-1294C>G) | |
16 | g.51138846G= | CA2222016876 | SALL1 | c.3376C= (p.Leu1126=) c.3085C= (p.Leu1029=) c.77-1294C= (n.77-1294C=) | |
16 | g.51138846G>T | CA395880438 | SALL1 | c.3376C>A (p.Leu1126Met) c.3085C>A (p.Leu1029Met) c.77-1294C>A (n.77-1294C>A) | |
16 | g.51138847A>C | CA495779774 | SALL1 | c.3375T>G (p.Ala1125=) c.3084T>G (p.Ala1028=) c.77-1295T>G (n.77-1295T>G) | |
16 | g.51138847A>G | CA495779775 | SALL1 | c.3375T>C (p.Ala1125=) c.3084T>C (p.Ala1028=) c.77-1295T>C (n.77-1295T>C) | |
16 | g.51138847A>T | CA495779776 | SALL1 | c.3375T>A (p.Ala1125=) c.3084T>A (p.Ala1028=) c.77-1295T>A (n.77-1295T>A) | |
16 | g.51138848G>A | CA395880440 | SALL1 | c.3374C>T (p.Ala1125Val) c.3083C>T (p.Ala1028Val) c.77-1296C>T (n.77-1296C>T) | dbSNP |
16 | g.51138848G>C | CA395880442 | SALL1 | c.3374C>G (p.Ala1125Gly) c.3083C>G (p.Ala1028Gly) c.77-1296C>G (n.77-1296C>G) | |
16 | g.51138848G= | CA2222016879 | SALL1 | c.3374C= (p.Ala1125=) c.3083C= (p.Ala1028=) c.77-1296C= (n.77-1296C=) | |
16 | g.51138848G>T | CA395880443 | SALL1 | c.3374C>A (p.Ala1125Asp) c.3083C>A (p.Ala1028Asp) c.77-1296C>A (n.77-1296C>A) | |
16 | g.51138849C>A | CA8052939 | SALL1 | c.3373G>T (p.Ala1125Ser) c.3082G>T (p.Ala1028Ser) c.77-1297G>T (n.77-1297G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138849C= | CA2222016883 | SALL1 | c.3373G= (p.Ala1125=) c.3082G= (p.Ala1028=) c.77-1297G= (n.77-1297G=) | |
16 | g.51138849C>G | CA395880449 | SALL1 | c.3373G>C (p.Ala1125Pro) c.3082G>C (p.Ala1028Pro) c.77-1297G>C (n.77-1297G>C) | |
16 | g.51138849C>T | CA395880447 | SALL1 | c.3373G>A (p.Ala1125Thr) c.3082G>A (p.Ala1028Thr) c.77-1297G>A (n.77-1297G>A) | |
16 | g.51138850A= | CA2222016888 | SALL1 | c.3372T= (p.Pro1124=) c.3081T= (p.Pro1027=) c.77-1298T= (n.77-1298T=) | |
16 | g.51138850A>C | CA495779780 | SALL1 | c.3372T>G (p.Pro1124=) c.3081T>G (p.Pro1027=) c.77-1298T>G (n.77-1298T>G) | |
16 | g.51138850A>G | CA495779781 | SALL1 | c.3372T>C (p.Pro1124=) c.3081T>C (p.Pro1027=) c.77-1298T>C (n.77-1298T>C) | |
16 | g.51138850A>T | CA495779782 | SALL1 | c.3372T>A (p.Pro1124=) c.3081T>A (p.Pro1027=) c.77-1298T>A (n.77-1298T>A) | dbSNP |
16 | g.51138851G>A | CA395880452 | SALL1 | c.3371C>T (p.Pro1124Leu) c.3080C>T (p.Pro1027Leu) c.77-1299C>T (n.77-1299C>T) | |
16 | g.51138851G>C | CA395880457 | SALL1 | c.3371C>G (p.Pro1124Arg) c.3080C>G (p.Pro1027Arg) c.77-1299C>G (n.77-1299C>G) | dbSNP |
16 | g.51138851G>T | CA395880454 | SALL1 | c.3371C>A (p.Pro1124His) c.3080C>A (p.Pro1027His) c.77-1299C>A (n.77-1299C>A) | |
16 | g.51138852G>A | CA395880459 | SALL1 | c.3370C>T (p.Pro1124Ser) c.3079C>T (p.Pro1027Ser) c.77-1300C>T (n.77-1300C>T) | |
16 | g.51138852G>C | CA395880461 | SALL1 | c.3370C>G (p.Pro1124Ala) c.3079C>G (p.Pro1027Ala) c.77-1300C>G (n.77-1300C>G) | |
16 | g.51138852G>T | CA395880463 | SALL1 | c.3370C>A (p.Pro1124Thr) c.3079C>A (p.Pro1027Thr) c.77-1300C>A (n.77-1300C>A) | |
16 | g.51138853G>A | CA8052940 | SALL1 | c.3369C>T (p.Leu1123=) c.3078C>T (p.Leu1026=) c.77-1301C>T (n.77-1301C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138853G>C | CA495779783 | SALL1 | c.3369C>G (p.Leu1123=) c.3078C>G (p.Leu1026=) c.77-1301C>G (n.77-1301C>G) | gnomAD v4 |
16 | g.51138853G= | CA2222016891 | SALL1 | c.3369C= (p.Leu1123=) c.3078C= (p.Leu1026=) c.77-1301C= (n.77-1301C=) | |
16 | g.51138853G>T | CA495779784 | SALL1 | c.3369C>A (p.Leu1123=) c.3078C>A (p.Leu1026=) c.77-1301C>A (n.77-1301C>A) | |
16 | g.51138854A>C | CA395880465 | SALL1 | c.3368T>G (p.Leu1123Arg) c.3077T>G (p.Leu1026Arg) c.77-1302T>G (n.77-1302T>G) | |
16 | g.51138854A>G | CA395880467 | SALL1 | c.3368T>C (p.Leu1123Pro) c.3077T>C (p.Leu1026Pro) c.77-1302T>C (n.77-1302T>C) | |
16 | g.51138854A>T | CA395880468 | SALL1 | c.3368T>A (p.Leu1123His) c.3077T>A (p.Leu1026His) c.77-1302T>A (n.77-1302T>A) | |
16 | g.51138855G>A | CA395880470 | SALL1 | c.3367C>T (p.Leu1123Phe) c.3076C>T (p.Leu1026Phe) c.77-1303C>T (n.77-1303C>T) | |
16 | g.51138855G>C | CA395880472 | SALL1 | c.3367C>G (p.Leu1123Val) c.3076C>G (p.Leu1026Val) c.77-1303C>G (n.77-1303C>G) | gnomAD v4 |
16 | g.51138855G>T | CA395880473 | SALL1 | c.3367C>A (p.Leu1123Ile) c.3076C>A (p.Leu1026Ile) c.77-1303C>A (n.77-1303C>A) | |
16 | g.51138856C>A | CA495779788 | SALL1 | c.3366G>T (p.Leu1122=) c.3075G>T (p.Leu1025=) c.77-1304G>T (n.77-1304G>T) | gnomAD v4 |
16 | g.51138856C>G | CA495779789 | SALL1 | c.3366G>C (p.Leu1122=) c.3075G>C (p.Leu1025=) c.77-1304G>C (n.77-1304G>C) | |
16 | g.51138856C>T | CA495779790 | SALL1 | c.3366G>A (p.Leu1122=) c.3075G>A (p.Leu1025=) c.77-1304G>A (n.77-1304G>A) | |
16 | g.51138857A= | CA2222016895 | SALL1 | c.3365T= (p.Leu1122=) c.3074T= (p.Leu1025=) c.77-1305T= (n.77-1305T=) | |
16 | g.51138857A>C | CA395880480 | SALL1 | c.3365T>G (p.Leu1122Arg) c.3074T>G (p.Leu1025Arg) c.77-1305T>G (n.77-1305T>G) | |
16 | g.51138857A>G | CA8052941 | SALL1 | c.3365T>C (p.Leu1122Pro) c.3074T>C (p.Leu1025Pro) c.77-1305T>C (n.77-1305T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51138857A>T | CA395880476 | SALL1 | c.3365T>A (p.Leu1122Gln) c.3074T>A (p.Leu1025Gln) c.77-1305T>A (n.77-1305T>A) | |
16 | g.51138858G>A | CA495779791 | SALL1 | c.3364C>T (p.Leu1122=) c.3073C>T (p.Leu1025=) c.77-1306C>T (n.77-1306C>T) | |
16 | g.51138858G>C | CA395880481 | SALL1 | c.3364C>G (p.Leu1122Val) c.3073C>G (p.Leu1025Val) c.77-1306C>G (n.77-1306C>G) | gnomAD v4 |
16 | g.51138858G>T | CA395880482 | SALL1 | c.3364C>A (p.Leu1122Met) c.3073C>A (p.Leu1025Met) c.77-1306C>A (n.77-1306C>A) | |
16 | g.51138859A= | CA2222016901 | SALL1 | c.3363T= (p.Val1121=) c.3072T= (p.Val1024=) c.77-1307T= (n.77-1307T=) | |
16 | g.51138859A>C | CA495779793 | SALL1 | c.3363T>G (p.Val1121=) c.3072T>G (p.Val1024=) c.77-1307T>G (n.77-1307T>G) | |
16 | g.51138859A>G | CA495779794 | SALL1 | c.3363T>C (p.Val1121=) c.3072T>C (p.Val1024=) c.77-1307T>C (n.77-1307T>C) | dbSNP |
16 | g.51138859A>T | CA495779796 | SALL1 | c.3363T>A (p.Val1121=) c.3072T>A (p.Val1024=) c.77-1307T>A (n.77-1307T>A) | |
16 | g.51138860A= | CA2222016904 | SALL1 | c.3362T= (p.Val1121=) c.3071T= (p.Val1024=) c.77-1308T= (n.77-1308T=) | |
16 | g.51138860A>C | CA395880486 | SALL1 | c.3362T>G (p.Val1121Gly) c.3071T>G (p.Val1024Gly) c.77-1308T>G (n.77-1308T>G) | |
16 | g.51138860A>G | CA8052942 | SALL1 | c.3362T>C (p.Val1121Ala) c.3071T>C (p.Val1024Ala) c.77-1308T>C (n.77-1308T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138860A>T | CA395880489 | SALL1 | c.3362T>A (p.Val1121Asp) c.3071T>A (p.Val1024Asp) c.77-1308T>A (n.77-1308T>A) | |
16 | g.51138861C>A | CA395880491 | SALL1 | c.3361G>T (p.Val1121Phe) c.3070G>T (p.Val1024Phe) c.77-1309G>T (n.77-1309G>T) | gnomAD v4 |
16 | g.51138861C>G | CA395880492 | SALL1 | c.3361G>C (p.Val1121Leu) c.3070G>C (p.Val1024Leu) c.77-1309G>C (n.77-1309G>C) | |
16 | g.51138861C>T | CA395880495 | SALL1 | c.3361G>A (p.Val1121Ile) c.3070G>A (p.Val1024Ile) c.77-1309G>A (n.77-1309G>A) | |
16 | g.51138862T>A | CA495779798 | SALL1 | c.3360A>T (p.Pro1120=) c.3069A>T (p.Pro1023=) c.77-1310A>T (n.77-1310A>T) | |
16 | g.51138862T>C | CA495779799 | SALL1 | c.3360A>G (p.Pro1120=) c.3069A>G (p.Pro1023=) c.77-1310A>G (n.77-1310A>G) | gnomAD v4 |
16 | g.51138862T>G | CA495779800 | SALL1 | c.3360A>C (p.Pro1120=) c.3069A>C (p.Pro1023=) c.77-1310A>C (n.77-1310A>C) | |
16 | g.51138863G>A | CA395880497 | SALL1 | c.3359C>T (p.Pro1120Leu) c.3068C>T (p.Pro1023Leu) c.77-1311C>T (n.77-1311C>T) | gnomAD v4 |
16 | g.51138863G>C | CA395880499 | SALL1 | c.3359C>G (p.Pro1120Arg) c.3068C>G (p.Pro1023Arg) c.77-1311C>G (n.77-1311C>G) | |
16 | g.51138863G>T | CA395880501 | SALL1 | c.3359C>A (p.Pro1120Gln) c.3068C>A (p.Pro1023Gln) c.77-1311C>A (n.77-1311C>A) | |
16 | g.51138864G>A | CA395880505 | SALL1 | c.3358C>T (p.Pro1120Ser) c.3067C>T (p.Pro1023Ser) c.77-1312C>T (n.77-1312C>T) | |
16 | g.51138864G>C | CA395880507 | SALL1 | c.3358C>G (p.Pro1120Ala) c.3067C>G (p.Pro1023Ala) c.77-1312C>G (n.77-1312C>G) | |
16 | g.51138864G>T | CA395880503 | SALL1 | c.3358C>A (p.Pro1120Thr) c.3067C>A (p.Pro1023Thr) c.77-1312C>A (n.77-1312C>A) | |
16 | g.51138865G>A | CA495779803 | SALL1 | c.3357C>T (p.Ser1119=) c.3066C>T (p.Ser1022=) c.77-1313C>T (n.77-1313C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138865G>C | CA495779805 | SALL1 | c.3357C>G (p.Ser1119=) c.3066C>G (p.Ser1022=) c.77-1313C>G (n.77-1313C>G) | |
16 | g.51138865G= | CA2222016906 | SALL1 | c.3357C= (p.Ser1119=) c.3066C= (p.Ser1022=) c.77-1313C= (n.77-1313C=) | |
16 | g.51138865G>T | CA495779806 | SALL1 | c.3357C>A (p.Ser1119=) c.3066C>A (p.Ser1022=) c.77-1313C>A (n.77-1313C>A) | |
16 | g.51138866G>A | CA281300599 | SALL1 | c.3356C>T (p.Ser1119Phe) c.3065C>T (p.Ser1022Phe) c.77-1314C>T (n.77-1314C>T) | dbSNP |
16 | g.51138866G>C | CA395880513 | SALL1 | c.3356C>G (p.Ser1119Cys) c.3065C>G (p.Ser1022Cys) c.77-1314C>G (n.77-1314C>G) | |
16 | g.51138866G= | CA2222016910 | SALL1 | c.3356C= (p.Ser1119=) c.3065C= (p.Ser1022=) c.77-1314C= (n.77-1314C=) | |
16 | g.51138866G>T | CA395880516 | SALL1 | c.3356C>A (p.Ser1119Tyr) c.3065C>A (p.Ser1022Tyr) c.77-1314C>A (n.77-1314C>A) | gnomAD v4 |
16 | g.51138867A= | CA2222016913 | SALL1 | c.3355T= (p.Ser1119=) c.3064T= (p.Ser1022=) c.77-1315T= (n.77-1315T=) | |
16 | g.51138867A>C | CA395880518 | SALL1 | c.3355T>G (p.Ser1119Ala) c.3064T>G (p.Ser1022Ala) c.77-1315T>G (n.77-1315T>G) | gnomAD v4 |
16 | g.51138867A>G | CA8052943 | SALL1 | c.3355T>C (p.Ser1119Pro) c.3064T>C (p.Ser1022Pro) c.77-1315T>C (n.77-1315T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138867A>T | CA395880520 | SALL1 | c.3355T>A (p.Ser1119Thr) c.3064T>A (p.Ser1022Thr) c.77-1315T>A (n.77-1315T>A) | |
16 | g.51138868T>A | CA495779807 | SALL1 | c.3354A>T (p.Thr1118=) c.3063A>T (p.Thr1021=) c.77-1316A>T (n.77-1316A>T) | gnomAD v4 |
16 | g.51138868T>C | CA495779808 | SALL1 | c.3354A>G (p.Thr1118=) c.3063A>G (p.Thr1021=) c.77-1316A>G (n.77-1316A>G) | gnomAD v4 |
16 | g.51138868T>G | CA495779809 | SALL1 | c.3354A>C (p.Thr1118=) c.3063A>C (p.Thr1021=) c.77-1316A>C (n.77-1316A>C) | |
16 | g.51138869G>A | CA395880537 | SALL1 | c.3353C>T (p.Thr1118Ile) c.3062C>T (p.Thr1021Ile) c.77-1317C>T (n.77-1317C>T) | |
16 | g.51138869G>C | CA395880540 | SALL1 | c.3353C>G (p.Thr1118Arg) c.3062C>G (p.Thr1021Arg) c.77-1317C>G (n.77-1317C>G) | |
16 | g.51138869G>T | CA395880543 | SALL1 | c.3353C>A (p.Thr1118Lys) c.3062C>A (p.Thr1021Lys) c.77-1317C>A (n.77-1317C>A) | |
16 | g.51138870T>A | CA395880546 | SALL1 | c.3352A>T (p.Thr1118Ser) c.3061A>T (p.Thr1021Ser) c.77-1318A>T (n.77-1318A>T) | |
16 | g.51138870T>C | CA395880559 | SALL1 | c.3352A>G (p.Thr1118Ala) c.3061A>G (p.Thr1021Ala) c.77-1318A>G (n.77-1318A>G) | dbSNP |
16 | g.51138870T>G | CA395880563 | SALL1 | c.3352A>C (p.Thr1118Pro) c.3061A>C (p.Thr1021Pro) c.77-1318A>C (n.77-1318A>C) | |
16 | g.51138870T= | CA2222016918 | SALL1 | c.3352A= (p.Thr1118=) c.3061A= (p.Thr1021=) c.77-1318A= (n.77-1318A=) | |
16 | g.51138871G>A | CA495779813 | SALL1 | c.3351C>T (p.Ala1117=) c.3060C>T (p.Ala1020=) c.77-1319C>T (n.77-1319C>T) | dbSNP |
16 | g.51138871G>C | CA495779812 | SALL1 | c.3351C>G (p.Ala1117=) c.3060C>G (p.Ala1020=) c.77-1319C>G (n.77-1319C>G) | |
16 | g.51138871G= | CA2222016925 | SALL1 | c.3351C= (p.Ala1117=) c.3060C= (p.Ala1020=) c.77-1319C= (n.77-1319C=) | |
16 | g.51138871G>T | CA495779811 | SALL1 | c.3351C>A (p.Ala1117=) c.3060C>A (p.Ala1020=) c.77-1319C>A (n.77-1319C>A) | |
16 | g.51138871_51138873dup | CA2553379064 | SALL1 | c.3349_3351dup (p.Ala1117_Thr1118insAla) c.3058_3060dup (p.Ala1020_Thr1021insAla) c.77-1321_77-1319dup (n.77-1321_77-1319dup) | |
16 | g.51138872G>A | CA395880570 | SALL1 | c.3350C>T (p.Ala1117Val) c.3059C>T (p.Ala1020Val) c.77-1320C>T (n.77-1320C>T) | |
16 | g.51138872G>C | CA395880566 | SALL1 | c.3350C>G (p.Ala1117Gly) c.3059C>G (p.Ala1020Gly) c.77-1320C>G (n.77-1320C>G) | |
16 | g.51138872G>T | CA395880568 | SALL1 | c.3350C>A (p.Ala1117Asp) c.3059C>A (p.Ala1020Asp) c.77-1320C>A (n.77-1320C>A) | |
16 | g.51138873C>A | CA395880573 | SALL1 | c.3349G>T (p.Ala1117Ser) c.3058G>T (p.Ala1020Ser) c.77-1321G>T (n.77-1321G>T) | |
16 | g.51138873C= | CA2222016927 | SALL1 | c.3349G= (p.Ala1117=) c.3058G= (p.Ala1020=) c.77-1321G= (n.77-1321G=) | |
16 | g.51138873C>G | CA395880576 | SALL1 | c.3349G>C (p.Ala1117Pro) c.3058G>C (p.Ala1020Pro) c.77-1321G>C (n.77-1321G>C) | |
16 | g.51138873C>T | CA395880580 | SALL1 | c.3349G>A (p.Ala1117Thr) c.3058G>A (p.Ala1020Thr) c.77-1321G>A (n.77-1321G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138874A>C | CA495779815 | SALL1 | c.3348T>G (p.Ser1116=) c.3057T>G (p.Ser1019=) c.77-1322T>G (n.77-1322T>G) | |
16 | g.51138874A>G | CA495779816 | SALL1 | c.3348T>C (p.Ser1116=) c.3057T>C (p.Ser1019=) c.77-1322T>C (n.77-1322T>C) | |
16 | g.51138874A>T | CA495779817 | SALL1 | c.3348T>A (p.Ser1116=) c.3057T>A (p.Ser1019=) c.77-1322T>A (n.77-1322T>A) | |
16 | g.51138875G>A | CA8052944 | SALL1 | c.3347C>T (p.Ser1116Phe) c.3056C>T (p.Ser1019Phe) c.77-1323C>T (n.77-1323C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138875G>C | CA395880583 | SALL1 | c.3347C>G (p.Ser1116Cys) c.3056C>G (p.Ser1019Cys) c.77-1323C>G (n.77-1323C>G) | |
16 | g.51138875G= | CA2222016931 | SALL1 | c.3347C= (p.Ser1116=) c.3056C= (p.Ser1019=) c.77-1323C= (n.77-1323C=) | |
16 | g.51138875G>T | CA395880585 | SALL1 | c.3347C>A (p.Ser1116Tyr) c.3056C>A (p.Ser1019Tyr) c.77-1323C>A (n.77-1323C>A) | |
16 | g.51138876A>C | CA395880588 | SALL1 | c.3346T>G (p.Ser1116Ala) c.3055T>G (p.Ser1019Ala) c.77-1324T>G (n.77-1324T>G) | |
16 | g.51138876A>G | CA395880590 | SALL1 | c.3346T>C (p.Ser1116Pro) c.3055T>C (p.Ser1019Pro) c.77-1324T>C (n.77-1324T>C) | |
16 | g.51138876A>T | CA395880593 | SALL1 | c.3346T>A (p.Ser1116Thr) c.3055T>A (p.Ser1019Thr) c.77-1324T>A (n.77-1324T>A) | |
16 | g.51138877G>A | CA495779819 | SALL1 | c.3345C>T (p.Ser1115=) c.3054C>T (p.Ser1018=) c.77-1325C>T (n.77-1325C>T) | |
16 | g.51138877G>C | CA495779821 | SALL1 | c.3345C>G (p.Ser1115=) c.3054C>G (p.Ser1018=) c.77-1325C>G (n.77-1325C>G) | gnomAD v4 |
16 | g.51138877G>T | CA495779820 | SALL1 | c.3345C>A (p.Ser1115=) c.3054C>A (p.Ser1018=) c.77-1325C>A (n.77-1325C>A) | |
16 | g.51138878G>A | CA395880595 | SALL1 | c.3344C>T (p.Ser1115Phe) c.3053C>T (p.Ser1018Phe) c.77-1326C>T (n.77-1326C>T) | |
16 | g.51138878G>C | CA395880597 | SALL1 | c.3344C>G (p.Ser1115Cys) c.3053C>G (p.Ser1018Cys) c.77-1326C>G (n.77-1326C>G) | |
16 | g.51138878G>T | CA395880598 | SALL1 | c.3344C>A (p.Ser1115Tyr) c.3053C>A (p.Ser1018Tyr) c.77-1326C>A (n.77-1326C>A) | |
16 | g.51138879A>C | CA395880608 | SALL1 | c.3343T>G (p.Ser1115Ala) c.3052T>G (p.Ser1018Ala) c.77-1327T>G (n.77-1327T>G) | |
16 | g.51138879A>G | CA395880605 | SALL1 | c.3343T>C (p.Ser1115Pro) c.3052T>C (p.Ser1018Pro) c.77-1327T>C (n.77-1327T>C) | gnomAD v4 |
16 | g.51138879A>T | CA395880602 | SALL1 | c.3343T>A (p.Ser1115Thr) c.3052T>A (p.Ser1018Thr) c.77-1327T>A (n.77-1327T>A) | |
16 | g.51138880A>C | CA495779824 | SALL1 | c.3342T>G (p.Ser1114=) c.3051T>G (p.Ser1017=) c.77-1328T>G (n.77-1328T>G) | COSMIC |
16 | g.51138880A>G | CA495779826 | SALL1 | c.3342T>C (p.Ser1114=) c.3051T>C (p.Ser1017=) c.77-1328T>C (n.77-1328T>C) | |
16 | g.51138880A>T | CA495779827 | SALL1 | c.3342T>A (p.Ser1114=) c.3051T>A (p.Ser1017=) c.77-1328T>A (n.77-1328T>A) | |
16 | g.51138881G>A | CA395880611 | SALL1 | c.3341C>T (p.Ser1114Phe) c.3050C>T (p.Ser1017Phe) c.77-1329C>T (n.77-1329C>T) | |
16 | g.51138881G>C | CA395880616 | SALL1 | c.3341C>G (p.Ser1114Cys) c.3050C>G (p.Ser1017Cys) c.77-1329C>G (n.77-1329C>G) | |
16 | g.51138881G>T | CA395880614 | SALL1 | c.3341C>A (p.Ser1114Tyr) c.3050C>A (p.Ser1017Tyr) c.77-1329C>A (n.77-1329C>A) | gnomAD v4 |
16 | g.51138882A>C | CA395880618 | SALL1 | c.3340T>G (p.Ser1114Ala) c.3049T>G (p.Ser1017Ala) c.77-1330T>G (n.77-1330T>G) | |
16 | g.51138882A>G | CA395880621 | SALL1 | c.3340T>C (p.Ser1114Pro) c.3049T>C (p.Ser1017Pro) c.77-1330T>C (n.77-1330T>C) | |
16 | g.51138882A>T | CA395880620 | SALL1 | c.3340T>A (p.Ser1114Thr) c.3049T>A (p.Ser1017Thr) c.77-1330T>A (n.77-1330T>A) | |
16 | g.51138883C>A | CA495779828 | SALL1 | c.3339G>T (p.Leu1113=) c.3048G>T (p.Leu1016=) c.77-1331G>T (n.77-1331G>T) | |
16 | g.51138883C>G | CA495779829 | SALL1 | c.3339G>C (p.Leu1113=) c.3048G>C (p.Leu1016=) c.77-1331G>C (n.77-1331G>C) | |
16 | g.51138883C>T | CA495779830 | SALL1 | c.3339G>A (p.Leu1113=) c.3048G>A (p.Leu1016=) c.77-1331G>A (n.77-1331G>A) | |
16 | g.51138884A= | CA2222016934 | SALL1 | c.3338T= (p.Leu1113=) c.3047T= (p.Leu1016=) c.77-1332T= (n.77-1332T=) | |
16 | g.51138884A>C | CA395880624 | SALL1 | c.3338T>G (p.Leu1113Arg) c.3047T>G (p.Leu1016Arg) c.77-1332T>G (n.77-1332T>G) | |
16 | g.51138884A>G | CA395880626 | SALL1 | c.3338T>C (p.Leu1113Pro) c.3047T>C (p.Leu1016Pro) c.77-1332T>C (n.77-1332T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138884A>T | CA395880628 | SALL1 | c.3338T>A (p.Leu1113Gln) c.3047T>A (p.Leu1016Gln) c.77-1332T>A (n.77-1332T>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138885G>A | CA495779834 | SALL1 | c.3337C>T (p.Leu1113=) c.3046C>T (p.Leu1016=) c.77-1333C>T (n.77-1333C>T) | |
16 | g.51138885G>C | CA395880630 | SALL1 | c.3337C>G (p.Leu1113Val) c.3046C>G (p.Leu1016Val) c.77-1333C>G (n.77-1333C>G) | gnomAD v4 |
16 | g.51138885G>T | CA395880631 | SALL1 | c.3337C>A (p.Leu1113Met) c.3046C>A (p.Leu1016Met) c.77-1333C>A (n.77-1333C>A) | |
16 | g.51138886del | CA2695223339 | SALL1 | c.3336del (p.Leu1113CysfsTer?) c.3045del (p.Leu1016CysfsTer?) c.77-1334del (n.77-1334del) | |
16 | g.51138886A>C | CA495779836 | SALL1 | c.3336T>G (p.Pro1112=) c.3045T>G (p.Pro1015=) c.77-1334T>G (n.77-1334T>G) | |
16 | g.51138886A>G | CA495779837 | SALL1 | c.3336T>C (p.Pro1112=) c.3045T>C (p.Pro1015=) c.77-1334T>C (n.77-1334T>C) | |
16 | g.51138886A>T | CA495779835 | SALL1 | c.3336T>A (p.Pro1112=) c.3045T>A (p.Pro1015=) c.77-1334T>A (n.77-1334T>A) | |
16 | g.51138887G>A | CA8052945 | SALL1 | c.3335C>T (p.Pro1112Leu) c.3044C>T (p.Pro1015Leu) c.77-1335C>T (n.77-1335C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138887G>C | CA395880637 | SALL1 | c.3335C>G (p.Pro1112Arg) c.3044C>G (p.Pro1015Arg) c.77-1335C>G (n.77-1335C>G) | |
16 | g.51138887G= | CA2222016939 | SALL1 | c.3335C= (p.Pro1112=) c.3044C= (p.Pro1015=) c.77-1335C= (n.77-1335C=) | |
16 | g.51138887G>T | CA395880639 | SALL1 | c.3335C>A (p.Pro1112His) c.3044C>A (p.Pro1015His) c.77-1335C>A (n.77-1335C>A) | |
16 | g.51138888del | CA495779838 | SALL1 | c.3335del (p.Pro1112LeufsTer?) c.3044del (p.Pro1015LeufsTer?) c.77-1335del (n.77-1335del) | COSMIC |
16 | g.51138888G>A | CA395880643 | SALL1 | c.3334C>T (p.Pro1112Ser) c.3043C>T (p.Pro1015Ser) c.77-1336C>T (n.77-1336C>T) | |
16 | g.51138888G>C | CA395880646 | SALL1 | c.3334C>G (p.Pro1112Ala) c.3043C>G (p.Pro1015Ala) c.77-1336C>G (n.77-1336C>G) | |
16 | g.51138888G>T | CA395880649 | SALL1 | c.3334C>A (p.Pro1112Thr) c.3043C>A (p.Pro1015Thr) c.77-1336C>A (n.77-1336C>A) | |
16 | g.51138889C>A | CA495779841 | SALL1 | c.3333G>T (p.Gly1111=) c.3042G>T (p.Gly1014=) c.77-1337G>T (n.77-1337G>T) | |
16 | g.51138889C= | CA2222016949 | SALL1 | c.3333G= (p.Gly1111=) c.3042G= (p.Gly1014=) c.77-1337G= (n.77-1337G=) | |
16 | g.51138889C>G | CA8052946 | SALL1 | c.3333G>C (p.Gly1111=) c.3042G>C (p.Gly1014=) c.77-1337G>C (n.77-1337G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138889C>T | CA8052947 | SALL1 | c.3333G>A (p.Gly1111=) c.3042G>A (p.Gly1014=) c.77-1337G>A (n.77-1337G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138890C>A | CA395880657 | SALL1 | c.3332G>T (p.Gly1111Val) c.3041G>T (p.Gly1014Val) c.77-1338G>T (n.77-1338G>T) | |
16 | g.51138890C>G | CA395880659 | SALL1 | c.3332G>C (p.Gly1111Ala) c.3041G>C (p.Gly1014Ala) c.77-1338G>C (n.77-1338G>C) | |
16 | g.51138890C>T | CA395880661 | SALL1 | c.3332G>A (p.Gly1111Glu) c.3041G>A (p.Gly1014Glu) c.77-1338G>A (n.77-1338G>A) | gnomAD v4 |
16 | g.51138891C>A | CA395880663 | SALL1 | c.3331G>T (p.Gly1111Trp) c.3040G>T (p.Gly1014Trp) c.77-1339G>T (n.77-1339G>T) | |
16 | g.51138891C>G | CA395880664 | SALL1 | c.3331G>C (p.Gly1111Arg) c.3040G>C (p.Gly1014Arg) c.77-1339G>C (n.77-1339G>C) | |
16 | g.51138891C>T | CA395880666 | SALL1 | c.3331G>A (p.Gly1111Arg) c.3040G>A (p.Gly1014Arg) c.77-1339G>A (n.77-1339G>A) | |
16 | g.51138892A= | CA2222016952 | SALL1 | c.3330T= (p.Ser1110=) c.3039T= (p.Ser1013=) c.77-1340T= (n.77-1340T=) | |
16 | g.51138892A>C | CA495779843 | SALL1 | c.3330T>G (p.Ser1110=) c.3039T>G (p.Ser1013=) c.77-1340T>G (n.77-1340T>G) | |
16 | g.51138892A>G | CA8052948 | SALL1 | c.3330T>C (p.Ser1110=) c.3039T>C (p.Ser1013=) c.77-1340T>C (n.77-1340T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138892A>T | CA495779844 | SALL1 | c.3330T>A (p.Ser1110=) c.3039T>A (p.Ser1013=) c.77-1340T>A (n.77-1340T>A) | |
16 | g.51138893G>A | CA395880670 | SALL1 | c.3329C>T (p.Ser1110Phe) c.3038C>T (p.Ser1013Phe) c.77-1341C>T (n.77-1341C>T) | |
16 | g.51138893G>C | CA395880672 | SALL1 | c.3329C>G (p.Ser1110Cys) c.3038C>G (p.Ser1013Cys) c.77-1341C>G (n.77-1341C>G) | |
16 | g.51138893G>T | CA395880675 | SALL1 | c.3329C>A (p.Ser1110Tyr) c.3038C>A (p.Ser1013Tyr) c.77-1341C>A (n.77-1341C>A) | |
16 | g.51138894A= | CA2222016957 | SALL1 | c.3328T= (p.Ser1110=) c.3037T= (p.Ser1013=) c.77-1342T= (n.77-1342T=) | |
16 | g.51138894A>C | CA395880688 | SALL1 | c.3328T>G (p.Ser1110Ala) c.3037T>G (p.Ser1013Ala) c.77-1342T>G (n.77-1342T>G) | |
16 | g.51138894A>G | CA281300611 | SALL1 | c.3328T>C (p.Ser1110Pro) c.3037T>C (p.Ser1013Pro) c.77-1342T>C (n.77-1342T>C) | dbSNP |
16 | g.51138894A>T | CA395880685 | SALL1 | c.3328T>A (p.Ser1110Thr) c.3037T>A (p.Ser1013Thr) c.77-1342T>A (n.77-1342T>A) | |
16 | g.51138895C>A | CA495779846 | SALL1 | c.3327G>T (p.Pro1109=) c.3036G>T (p.Pro1012=) c.77-1343G>T (n.77-1343G>T) | gnomAD v4 |
16 | g.51138895C= | CA2222016962 | SALL1 | c.3327G= (p.Pro1109=) c.3036G= (p.Pro1012=) c.77-1343G= (n.77-1343G=) | |
16 | g.51138895C>G | CA495779847 | SALL1 | c.3327G>C (p.Pro1109=) c.3036G>C (p.Pro1012=) c.77-1343G>C (n.77-1343G>C) | |
16 | g.51138895C>T | CA8052949 | SALL1 | c.3327G>A (p.Pro1109=) c.3036G>A (p.Pro1012=) c.77-1343G>A (n.77-1343G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138896G>A | CA8052950 | SALL1 | c.3326C>T (p.Pro1109Leu) c.3035C>T (p.Pro1012Leu) c.77-1344C>T (n.77-1344C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138896G>C | CA395880696 | SALL1 | c.3326C>G (p.Pro1109Arg) c.3035C>G (p.Pro1012Arg) c.77-1344C>G (n.77-1344C>G) | |
16 | g.51138896G= | CA2222016969 | SALL1 | c.3326C= (p.Pro1109=) c.3035C= (p.Pro1012=) c.77-1344C= (n.77-1344C=) | |
16 | g.51138896G>T | CA395880698 | SALL1 | c.3326C>A (p.Pro1109Gln) c.3035C>A (p.Pro1012Gln) c.77-1344C>A (n.77-1344C>A) | |
16 | g.51138897G>A | CA395880706 | SALL1 | c.3325C>T (p.Pro1109Ser) c.3034C>T (p.Pro1012Ser) c.77-1345C>T (n.77-1345C>T) | gnomAD v4 COSMIC |
16 | g.51138897G>C | CA395880703 | SALL1 | c.3325C>G (p.Pro1109Ala) c.3034C>G (p.Pro1012Ala) c.77-1345C>G (n.77-1345C>G) | |
16 | g.51138897G>T | CA395880700 | SALL1 | c.3325C>A (p.Pro1109Thr) c.3034C>A (p.Pro1012Thr) c.77-1345C>A (n.77-1345C>A) | |
16 | g.51138898G>A | CA495779849 | SALL1 | c.3324C>T (p.Val1108=) c.3033C>T (p.Val1011=) c.77-1346C>T (n.77-1346C>T) | |
16 | g.51138898G>C | CA495779851 | SALL1 | c.3324C>G (p.Val1108=) c.3033C>G (p.Val1011=) c.77-1346C>G (n.77-1346C>G) | dbSNP |
16 | g.51138898G>T | CA495779852 | SALL1 | c.3324C>A (p.Val1108=) c.3033C>A (p.Val1011=) c.77-1346C>A (n.77-1346C>A) | |
16 | g.51138899A>C | CA395880709 | SALL1 | c.3323T>G (p.Val1108Gly) c.3032T>G (p.Val1011Gly) c.77-1347T>G (n.77-1347T>G) | |
16 | g.51138899A>G | CA395880711 | SALL1 | c.3323T>C (p.Val1108Ala) c.3032T>C (p.Val1011Ala) c.77-1347T>C (n.77-1347T>C) | |
16 | g.51138899A>T | CA395880712 | SALL1 | c.3323T>A (p.Val1108Asp) c.3032T>A (p.Val1011Asp) c.77-1347T>A (n.77-1347T>A) | |
16 | g.51138900C>A | CA8052953 | SALL1 | c.3322G>T (p.Val1108Phe) c.3031G>T (p.Val1011Phe) c.77-1348G>T (n.77-1348G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138900C= | CA2222016976 | SALL1 | c.3322G= (p.Val1108=) c.3031G= (p.Val1011=) c.77-1348G= (n.77-1348G=) | |
16 | g.51138900C>G | CA8052951 | SALL1 | c.3322G>C (p.Val1108Leu) c.3031G>C (p.Val1011Leu) c.77-1348G>C (n.77-1348G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138900C>T | CA8052952 | SALL1 | c.3322G>A (p.Val1108Ile) c.3031G>A (p.Val1011Ile) c.77-1348G>A (n.77-1348G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138901G>A | CA8052954 | SALL1 | c.3321C>T (p.His1107=) c.3030C>T (p.His1010=) c.77-1349C>T (n.77-1349C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138901G>C | CA395880722 | SALL1 | c.3321C>G (p.His1107Gln) c.3030C>G (p.His1010Gln) c.77-1349C>G (n.77-1349C>G) | COSMIC |
16 | g.51138901G= | CA2222016988 | SALL1 | c.3321C= (p.His1107=) c.3030C= (p.His1010=) c.77-1349C= (n.77-1349C=) | |
16 | g.51138901G>T | CA281300662 | SALL1 | c.3321C>A (p.His1107Gln) c.3030C>A (p.His1010Gln) c.77-1349C>A (n.77-1349C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51138902T>A | CA395880726 | SALL1 | c.3320A>T (p.His1107Leu) c.3029A>T (p.His1010Leu) c.77-1350A>T (n.77-1350A>T) | |
16 | g.51138902T>C | CA395880729 | SALL1 | c.3320A>G (p.His1107Arg) c.3029A>G (p.His1010Arg) c.77-1350A>G (n.77-1350A>G) | |
16 | g.51138902T>G | CA395880731 | SALL1 | c.3320A>C (p.His1107Pro) c.3029A>C (p.His1010Pro) c.77-1350A>C (n.77-1350A>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138902T= | CA2222016995 | SALL1 | c.3320A= (p.His1107=) c.3029A= (p.His1010=) c.77-1350A= (n.77-1350A=) | |
16 | g.51138903G>A | CA395880734 | SALL1 | c.3319C>T (p.His1107Tyr) c.3028C>T (p.His1010Tyr) c.77-1351C>T (n.77-1351C>T) | |
16 | g.51138903G>C | CA395880744 | SALL1 | c.3319C>G (p.His1107Asp) c.3028C>G (p.His1010Asp) c.77-1351C>G (n.77-1351C>G) | |
16 | g.51138903G>T | CA395880747 | SALL1 | c.3319C>A (p.His1107Asn) c.3028C>A (p.His1010Asn) c.77-1351C>A (n.77-1351C>A) | |
16 | g.51138904A>C | CA395880748 | SALL1 | c.3318T>G (p.Ser1106Arg) c.3027T>G (p.Ser1009Arg) c.77-1352T>G (n.77-1352T>G) | |
16 | g.51138904A>G | CA495779856 | SALL1 | c.3318T>C (p.Ser1106=) c.3027T>C (p.Ser1009=) c.77-1352T>C (n.77-1352T>C) | |
16 | g.51138904A>T | CA395880750 | SALL1 | c.3318T>A (p.Ser1106Arg) c.3027T>A (p.Ser1009Arg) c.77-1352T>A (n.77-1352T>A) | |
16 | g.51138905C>A | CA395880752 | SALL1 | c.3317G>T (p.Ser1106Ile) c.3026G>T (p.Ser1009Ile) c.77-1353G>T (n.77-1353G>T) | |
16 | g.51138905C= | CA2222016999 | SALL1 | c.3317G= (p.Ser1106=) c.3026G= (p.Ser1009=) c.77-1353G= (n.77-1353G=) | |
16 | g.51138905C>G | CA395880753 | SALL1 | c.3317G>C (p.Ser1106Thr) c.3026G>C (p.Ser1009Thr) c.77-1353G>C (n.77-1353G>C) | |
16 | g.51138905C>T | CA395880754 | SALL1 | c.3317G>A (p.Ser1106Asn) c.3026G>A (p.Ser1009Asn) c.77-1353G>A (n.77-1353G>A) | dbSNP |
16 | g.51138906T>A | CA395880756 | SALL1 | c.3316A>T (p.Ser1106Cys) c.3025A>T (p.Ser1009Cys) c.77-1354A>T (n.77-1354A>T) | |
16 | g.51138906T>C | CA395880758 | SALL1 | c.3316A>G (p.Ser1106Gly) c.3025A>G (p.Ser1009Gly) c.77-1354A>G (n.77-1354A>G) | |
16 | g.51138906T>G | CA395880755 | SALL1 | c.3316A>C (p.Ser1106Arg) c.3025A>C (p.Ser1009Arg) c.77-1354A>C (n.77-1354A>C) | |
16 | g.51138907G>A | CA495779858 | SALL1 | c.3315C>T (p.Thr1105=) c.3024C>T (p.Thr1008=) c.77-1355C>T (n.77-1355C>T) | gnomAD v4 |
16 | g.51138907G>C | CA495779860 | SALL1 | c.3315C>G (p.Thr1105=) c.3024C>G (p.Thr1008=) c.77-1355C>G (n.77-1355C>G) | |
16 | g.51138907G>T | CA495779859 | SALL1 | c.3315C>A (p.Thr1105=) c.3024C>A (p.Thr1008=) c.77-1355C>A (n.77-1355C>A) | |
16 | g.51138908G>A | CA395880759 | SALL1 | c.3314C>T (p.Thr1105Ile) c.3023C>T (p.Thr1008Ile) c.77-1356C>T (n.77-1356C>T) | gnomAD v4 |
16 | g.51138908G>C | CA395880761 | SALL1 | c.3314C>G (p.Thr1105Ser) c.3023C>G (p.Thr1008Ser) c.77-1356C>G (n.77-1356C>G) | |
16 | g.51138908G>T | CA395880763 | SALL1 | c.3314C>A (p.Thr1105Asn) c.3023C>A (p.Thr1008Asn) c.77-1356C>A (n.77-1356C>A) | |
16 | g.51138909T>A | CA395880765 | SALL1 | c.3313A>T (p.Thr1105Ser) c.3022A>T (p.Thr1008Ser) c.77-1357A>T (n.77-1357A>T) | |
16 | g.51138909T>C | CA395880767 | SALL1 | c.3313A>G (p.Thr1105Ala) c.3022A>G (p.Thr1008Ala) c.77-1357A>G (n.77-1357A>G) | |
16 | g.51138909T>G | CA395880770 | SALL1 | c.3313A>C (p.Thr1105Pro) c.3022A>C (p.Thr1008Pro) c.77-1357A>C (n.77-1357A>C) | dbSNP |
16 | g.51138909T= | CA2222017008 | SALL1 | c.3313A= (p.Thr1105=) c.3022A= (p.Thr1008=) c.77-1357A= (n.77-1357A=) | |
16 | g.51138910G>A | CA495779861 | SALL1 | c.3312C>T (p.Pro1104=) c.3021C>T (p.Pro1007=) c.77-1358C>T (n.77-1358C>T) | |
16 | g.51138910G>C | CA495779862 | SALL1 | c.3312C>G (p.Pro1104=) c.3021C>G (p.Pro1007=) c.77-1358C>G (n.77-1358C>G) | |
16 | g.51138910G= | CA2222017013 | SALL1 | c.3312C= (p.Pro1104=) c.3021C= (p.Pro1007=) c.77-1358C= (n.77-1358C=) | |
16 | g.51138910G>T | CA8052955 | SALL1 | c.3312C>A (p.Pro1104=) c.3021C>A (p.Pro1007=) c.77-1358C>A (n.77-1358C>A) | dbSNP ExAC gnomAD v4 |
16 | g.51138911G>A | CA395880775 | SALL1 | c.3311C>T (p.Pro1104Leu) c.3020C>T (p.Pro1007Leu) c.77-1359C>T (n.77-1359C>T) | |
16 | g.51138911G>C | CA395880779 | SALL1 | c.3311C>G (p.Pro1104Arg) c.3020C>G (p.Pro1007Arg) c.77-1359C>G (n.77-1359C>G) | |
16 | g.51138911G>T | CA395880777 | SALL1 | c.3311C>A (p.Pro1104His) c.3020C>A (p.Pro1007His) c.77-1359C>A (n.77-1359C>A) | |
16 | g.51138912G>A | CA395880783 | SALL1 | c.3310C>T (p.Pro1104Ser) c.3019C>T (p.Pro1007Ser) c.77-1360C>T (n.77-1360C>T) | gnomAD v4 |
16 | g.51138912G>C | CA8052956 | SALL1 | c.3310C>G (p.Pro1104Ala) c.3019C>G (p.Pro1007Ala) c.77-1360C>G (n.77-1360C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138912G= | CA2222017019 | SALL1 | c.3310C= (p.Pro1104=) c.3019C= (p.Pro1007=) c.77-1360C= (n.77-1360C=) | |
16 | g.51138912G>T | CA395880787 | SALL1 | c.3310C>A (p.Pro1104Thr) c.3019C>A (p.Pro1007Thr) c.77-1360C>A (n.77-1360C>A) | |
16 | g.51138913G>A | CA495779866 | SALL1 | c.3309C>T (p.Thr1103=) c.3018C>T (p.Thr1006=) c.77-1361C>T (n.77-1361C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51138913G>C | CA495779867 | SALL1 | c.3309C>G (p.Thr1103=) c.3018C>G (p.Thr1006=) c.77-1361C>G (n.77-1361C>G) | |
16 | g.51138913G= | CA2222017026 | SALL1 | c.3309C= (p.Thr1103=) c.3018C= (p.Thr1006=) c.77-1361C= (n.77-1361C=) | |
16 | g.51138913G>T | CA8052957 | SALL1 | c.3309C>A (p.Thr1103=) c.3018C>A (p.Thr1006=) c.77-1361C>A (n.77-1361C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138914G>A | CA395880795 | SALL1 | c.3308C>T (p.Thr1103Ile) c.3017C>T (p.Thr1006Ile) c.77-1362C>T (n.77-1362C>T) | |
16 | g.51138914G>C | CA395880791 | SALL1 | c.3308C>G (p.Thr1103Ser) c.3017C>G (p.Thr1006Ser) c.77-1362C>G (n.77-1362C>G) | |
16 | g.51138914G>T | CA395880794 | SALL1 | c.3308C>A (p.Thr1103Asn) c.3017C>A (p.Thr1006Asn) c.77-1362C>A (n.77-1362C>A) | gnomAD v4 |
16 | g.51138915T>A | CA395880798 | SALL1 | c.3307A>T (p.Thr1103Ser) c.3016A>T (p.Thr1006Ser) c.77-1363A>T (n.77-1363A>T) | |
16 | g.51138915T>C | CA395880801 | SALL1 | c.3307A>G (p.Thr1103Ala) c.3016A>G (p.Thr1006Ala) c.77-1363A>G (n.77-1363A>G) | |
16 | g.51138915T>G | CA395880804 | SALL1 | c.3307A>C (p.Thr1103Pro) c.3016A>C (p.Thr1006Pro) c.77-1363A>C (n.77-1363A>C) | dbSNP |
16 | g.51138915T= | CA2222017035 | SALL1 | c.3307A= (p.Thr1103=) c.3016A= (p.Thr1006=) c.77-1363A= (n.77-1363A=) | |
16 | g.51138916G>A | CA495779870 | SALL1 | c.3306C>T (p.Asp1102=) c.3015C>T (p.Asp1005=) c.77-1364C>T (n.77-1364C>T) | |
16 | g.51138916G>C | CA395880807 | SALL1 | c.3306C>G (p.Asp1102Glu) c.3015C>G (p.Asp1005Glu) c.77-1364C>G (n.77-1364C>G) | |
16 | g.51138916G>T | CA395880810 | SALL1 | c.3306C>A (p.Asp1102Glu) c.3015C>A (p.Asp1005Glu) c.77-1364C>A (n.77-1364C>A) | gnomAD v4 |
16 | g.51138917T>A | CA395880813 | SALL1 | c.3305A>T (p.Asp1102Val) c.3014A>T (p.Asp1005Val) c.77-1365A>T (n.77-1365A>T) | |
16 | g.51138917T>C | CA10605926 | SALL1 | c.3305A>G (p.Asp1102Gly) c.3014A>G (p.Asp1005Gly) c.77-1365A>G (n.77-1365A>G) | ClinVar dbSNP |
16 | g.51138917T>G | CA395880817 | SALL1 | c.3305A>C (p.Asp1102Ala) c.3014A>C (p.Asp1005Ala) c.77-1365A>C (n.77-1365A>C) | |
16 | g.51138917T= | CA2222017040 | SALL1 | c.3305A= (p.Asp1102=) c.3014A= (p.Asp1005=) c.77-1365A= (n.77-1365A=) | |
16 | g.51138918C>A | CA395880820 | SALL1 | c.3304G>T (p.Asp1102Tyr) c.3013G>T (p.Asp1005Tyr) c.77-1366G>T (n.77-1366G>T) | |
16 | g.51138918C>G | CA395880823 | SALL1 | c.3304G>C (p.Asp1102His) c.3013G>C (p.Asp1005His) c.77-1366G>C (n.77-1366G>C) | |
16 | g.51138918C>T | CA395880825 | SALL1 | c.3304G>A (p.Asp1102Asn) c.3013G>A (p.Asp1005Asn) c.77-1366G>A (n.77-1366G>A) | |
16 | g.51138919C>A | CA395880828 | SALL1 | c.3303G>T (p.Lys1101Asn) c.3012G>T (p.Lys1004Asn) c.77-1367G>T (n.77-1367G>T) | |
16 | g.51138919C>G | CA395880830 | SALL1 | c.3303G>C (p.Lys1101Asn) c.3012G>C (p.Lys1004Asn) c.77-1367G>C (n.77-1367G>C) | |
16 | g.51138919C>T | CA495779876 | SALL1 | c.3303G>A (p.Lys1101=) c.3012G>A (p.Lys1004=) c.77-1367G>A (n.77-1367G>A) |