Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51138969_51138971del | CA2633181090 | SALL1 | c.3254_3256del (p.Ile1085del) c.2963_2965del (p.Ile988del) c.77-1416_77-1414del (n.77-1416_77-1414del) | gnomAD v4 |
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.51138968A>C | CA395881109 | SALL1 | c.3254T>G (p.Ile1085Ser) c.2963T>G (p.Ile988Ser) c.77-1416T>G (n.77-1416T>G) | |
16 | g.51138968A>G | CA395881107 | SALL1 | c.3254T>C (p.Ile1085Thr) c.2963T>C (p.Ile988Thr) c.77-1416T>C (n.77-1416T>C) | |
16 | g.51138968A>T | CA395881102 | SALL1 | c.3254T>A (p.Ile1085Asn) c.2963T>A (p.Ile988Asn) c.77-1416T>A (n.77-1416T>A) | |
16 | g.51138969T>A | CA395881111 | SALL1 | c.3253A>T (p.Ile1085Phe) c.2962A>T (p.Ile988Phe) c.77-1417A>T (n.77-1417A>T) | gnomAD v4 |
16 | g.51138969T>C | CA395881121 | SALL1 | c.3253A>G (p.Ile1085Val) c.2962A>G (p.Ile988Val) c.77-1417A>G (n.77-1417A>G) | gnomAD v4 |
16 | g.51138969T>G | CA395881125 | SALL1 | c.3253A>C (p.Ile1085Leu) c.2962A>C (p.Ile988Leu) c.77-1417A>C (n.77-1417A>C) | |
16 | g.51138970G>A | CA495779944 | SALL1 | c.3252C>T (p.Leu1084=) c.2961C>T (p.Leu987=) c.77-1418C>T (n.77-1418C>T) | |
16 | g.51138970G>C | CA495779945 | SALL1 | c.3252C>G (p.Leu1084=) c.2961C>G (p.Leu987=) c.77-1418C>G (n.77-1418C>G) | |
16 | g.51138970G>T | CA495779947 | SALL1 | c.3252C>A (p.Leu1084=) c.2961C>A (p.Leu987=) c.77-1418C>A (n.77-1418C>A) | |
16 | g.51138971A>C | CA395881127 | SALL1 | c.3251T>G (p.Leu1084Arg) c.2960T>G (p.Leu987Arg) c.77-1419T>G (n.77-1419T>G) | |
16 | g.51138971A>G | CA395881130 | SALL1 | c.3251T>C (p.Leu1084Pro) c.2960T>C (p.Leu987Pro) c.77-1419T>C (n.77-1419T>C) | |
16 | g.51138971A>T | CA395881132 | SALL1 | c.3251T>A (p.Leu1084His) c.2960T>A (p.Leu987His) c.77-1419T>A (n.77-1419T>A) | |
16 | g.51138972G>A | CA395881135 | SALL1 | c.3250C>T (p.Leu1084Phe) c.2959C>T (p.Leu987Phe) c.77-1420C>T (n.77-1420C>T) | gnomAD v4 |
16 | g.51138972G>C | CA395881138 | SALL1 | c.3250C>G (p.Leu1084Val) c.2959C>G (p.Leu987Val) c.77-1420C>G (n.77-1420C>G) | gnomAD v4 |
16 | g.51138972G>T | CA395881141 | SALL1 | c.3250C>A (p.Leu1084Ile) c.2959C>A (p.Leu987Ile) c.77-1420C>A (n.77-1420C>A) | |
16 | g.51138973A>C | CA495779948 | SALL1 | c.3249T>G (p.Ser1083=) c.2958T>G (p.Ser986=) c.77-1421T>G (n.77-1421T>G) | |
16 | g.51138973A>G | CA495779949 | SALL1 | c.3249T>C (p.Ser1083=) c.2958T>C (p.Ser986=) c.77-1421T>C (n.77-1421T>C) | |
16 | g.51138973A>T | CA495779950 | SALL1 | c.3249T>A (p.Ser1083=) c.2958T>A (p.Ser986=) c.77-1421T>A (n.77-1421T>A) | |
16 | g.51138974G>A | CA395881143 | SALL1 | c.3248C>T (p.Ser1083Phe) c.2957C>T (p.Ser986Phe) c.77-1422C>T (n.77-1422C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138974G>C | CA395881146 | SALL1 | c.3248C>G (p.Ser1083Cys) c.2957C>G (p.Ser986Cys) c.77-1422C>G (n.77-1422C>G) | |
16 | g.51138974G= | CA2222017125 | SALL1 | c.3248C= (p.Ser1083=) c.2957C= (p.Ser986=) c.77-1422C= (n.77-1422C=) | |
16 | g.51138974G>T | CA395881148 | SALL1 | c.3248C>A (p.Ser1083Tyr) c.2957C>A (p.Ser986Tyr) c.77-1422C>A (n.77-1422C>A) | |
16 | g.51138975A= | CA2222017130 | SALL1 | c.3247T= (p.Ser1083=) c.2956T= (p.Ser986=) c.77-1423T= (n.77-1423T=) | |
16 | g.51138975A>C | CA395881158 | SALL1 | c.3247T>G (p.Ser1083Ala) c.2956T>G (p.Ser986Ala) c.77-1423T>G (n.77-1423T>G) | |
16 | g.51138975A>G | CA395881152 | SALL1 | c.3247T>C (p.Ser1083Pro) c.2956T>C (p.Ser986Pro) c.77-1423T>C (n.77-1423T>C) | |
16 | g.51138975A>T | CA395881150 | SALL1 | c.3247T>A (p.Ser1083Thr) c.2956T>A (p.Ser986Thr) c.77-1423T>A (n.77-1423T>A) | dbSNP |
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) | 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) |