| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101757236A= | CA2058952185 | GNPTAB | c.3410T= (p.Leu1137=) n.276T= c.161T= (p.Leu54=) c.222T= c.3329T= (p.Leu1110=) c.3194T= (p.Leu1065=) c.2183T= (p.Leu728=) | |
| 12 | g.101757236A>C | CA386293160 | GNPTAB | c.3410T>G (p.Leu1137Trp) n.276T>G c.161T>G (p.Leu54Trp) c.222T>G c.3329T>G (p.Leu1110Trp) c.3194T>G (p.Leu1065Trp) c.2183T>G (p.Leu728Trp) | |
| 12 | g.101757236A>G | CA386293161 | GNPTAB | c.3410T>C (p.Leu1137Ser) n.276T>C c.161T>C (p.Leu54Ser) c.222T>C c.3329T>C (p.Leu1110Ser) c.3194T>C (p.Leu1065Ser) c.2183T>C (p.Leu728Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757236A>T | CA343397 | GNPTAB | c.3410T>A (p.Leu1137Ter) n.276T>A c.161T>A (p.Leu54Ter) c.222T>A c.3329T>A (p.Leu1110Ter) c.3194T>A (p.Leu1065Ter) c.2183T>A (p.Leu728Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757237A= | CA2058952186 | GNPTAB | c.3409T= (p.Leu1137=) n.275T= c.160T= (p.Leu54=) c.221T= c.3328T= (p.Leu1110=) c.3193T= (p.Leu1065=) c.2182T= (p.Leu728=) | |
| 12 | g.101757237A>C | CA386293162 | GNPTAB | c.3409T>G (p.Leu1137Val) n.275T>G c.160T>G (p.Leu54Val) c.221T>G c.3328T>G (p.Leu1110Val) c.3193T>G (p.Leu1065Val) c.2182T>G (p.Leu728Val) | gnomAD v4 |
| 12 | g.101757237A>G | CA242450695 | GNPTAB | c.3409T>C (p.Leu1137=) n.275T>C c.160T>C (p.Leu54=) c.221T>C c.3328T>C (p.Leu1110=) c.3193T>C (p.Leu1065=) c.2182T>C (p.Leu728=) | dbSNP gnomAD v4 |
| 12 | g.101757237A>T | CA386293163 | GNPTAB | c.3409T>A (p.Leu1137Met) n.275T>A c.160T>A (p.Leu54Met) c.221T>A c.3328T>A (p.Leu1110Met) c.3193T>A (p.Leu1065Met) c.2182T>A (p.Leu728Met) | |
| 12 | g.101757238C>A | CA386293164 | GNPTAB | c.3408G>T (p.Gln1136His) n.274G>T c.159G>T (p.Gln53His) c.220G>T c.3327G>T (p.Gln1109His) c.3192G>T (p.Gln1064His) c.2181G>T (p.Gln727His) | |
| 12 | g.101757238C>G | CA386293165 | GNPTAB | c.3408G>C (p.Gln1136His) n.274G>C c.159G>C (p.Gln53His) c.220G>C c.3327G>C (p.Gln1109His) c.3192G>C (p.Gln1064His) c.2181G>C (p.Gln727His) | |
| 12 | g.101757238C>T | CA481317958 | GNPTAB | c.3408G>A (p.Gln1136=) n.274G>A c.159G>A (p.Gln53=) c.220G>A c.3327G>A (p.Gln1109=) c.3192G>A (p.Gln1064=) c.2181G>A (p.Gln727=) | |
| 12 | g.101757239T>A | CA386293166 | GNPTAB | c.3407A>T (p.Gln1136Leu) n.273A>T c.158A>T (p.Gln53Leu) c.219A>T c.3326A>T (p.Gln1109Leu) c.3191A>T (p.Gln1064Leu) c.2180A>T (p.Gln727Leu) | |
| 12 | g.101757239T>C | CA386293167 | GNPTAB | c.3407A>G (p.Gln1136Arg) n.273A>G c.158A>G (p.Gln53Arg) c.219A>G c.3326A>G (p.Gln1109Arg) c.3191A>G (p.Gln1064Arg) c.2180A>G (p.Gln727Arg) | |
| 12 | g.101757239T>G | CA386293168 | GNPTAB | c.3407A>C (p.Gln1136Pro) n.273A>C c.158A>C (p.Gln53Pro) c.219A>C c.3326A>C (p.Gln1109Pro) c.3191A>C (p.Gln1064Pro) c.2180A>C (p.Gln727Pro) | |
| 12 | g.101757240G>A | CA386293171 | GNPTAB | c.3406C>T (p.Gln1136Ter) n.272C>T c.157C>T (p.Gln53Ter) c.218C>T c.3325C>T (p.Gln1109Ter) c.3190C>T (p.Gln1064Ter) c.2179C>T (p.Gln727Ter) | |
| 12 | g.101757240G>C | CA386293169 | GNPTAB | c.3406C>G (p.Gln1136Glu) n.272C>G c.157C>G (p.Gln53Glu) c.218C>G c.3325C>G (p.Gln1109Glu) c.3190C>G (p.Gln1064Glu) c.2179C>G (p.Gln727Glu) | |
| 12 | g.101757240G>T | CA386293170 | GNPTAB | c.3406C>A (p.Gln1136Lys) n.272C>A c.157C>A (p.Gln53Lys) c.218C>A c.3325C>A (p.Gln1109Lys) c.3190C>A (p.Gln1064Lys) c.2179C>A (p.Gln727Lys) | gnomAD v4 |
| 12 | g.101757241G>A | CA6746163 | GNPTAB | c.3405C>T (p.Gly1135=) n.271C>T c.156C>T (p.Gly52=) c.217C>T c.3324C>T (p.Gly1108=) c.3189C>T (p.Gly1063=) c.2178C>T (p.Gly726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757241G>C | CA481317960 | GNPTAB | c.3405C>G (p.Gly1135=) n.271C>G c.156C>G (p.Gly52=) c.217C>G c.3324C>G (p.Gly1108=) c.3189C>G (p.Gly1063=) c.2178C>G (p.Gly726=) | |
| 12 | g.101757241G= | CA2058952187 | GNPTAB | c.3405C= (p.Gly1135=) n.271C= c.156C= (p.Gly52=) c.217C= c.3324C= (p.Gly1108=) c.3189C= (p.Gly1063=) c.2178C= (p.Gly726=) | |
| 12 | g.101757241G>T | CA481317961 | GNPTAB | c.3405C>A (p.Gly1135=) n.271C>A c.156C>A (p.Gly52=) c.217C>A c.3324C>A (p.Gly1108=) c.3189C>A (p.Gly1063=) c.2178C>A (p.Gly726=) | gnomAD v4 |
| 12 | g.101757242C>A | CA386293172 | GNPTAB | c.3404G>T (p.Gly1135Val) n.270G>T c.155G>T (p.Gly52Val) c.216G>T c.3323G>T (p.Gly1108Val) c.3188G>T (p.Gly1063Val) c.2177G>T (p.Gly726Val) | |
| 12 | g.101757242C>G | CA386293173 | GNPTAB | c.3404G>C (p.Gly1135Ala) n.270G>C c.155G>C (p.Gly52Ala) c.216G>C c.3323G>C (p.Gly1108Ala) c.3188G>C (p.Gly1063Ala) c.2177G>C (p.Gly726Ala) | |
| 12 | g.101757242C>T | CA386293174 | GNPTAB | c.3404G>A (p.Gly1135Asp) n.270G>A c.155G>A (p.Gly52Asp) c.216G>A c.3323G>A (p.Gly1108Asp) c.3188G>A (p.Gly1063Asp) c.2177G>A (p.Gly726Asp) | gnomAD v4 |
| 12 | g.101757243C>A | CA386293175 | GNPTAB | c.3403G>T (p.Gly1135Cys) n.269G>T c.154G>T (p.Gly52Cys) c.215G>T c.3322G>T (p.Gly1108Cys) c.3187G>T (p.Gly1063Cys) c.2176G>T (p.Gly726Cys) | |
| 12 | g.101757243C= | CA2058952188 | GNPTAB | c.3403G= (p.Gly1135=) n.269G= c.154G= (p.Gly52=) c.215G= c.3322G= (p.Gly1108=) c.3187G= (p.Gly1063=) c.2176G= (p.Gly726=) | |
| 12 | g.101757243C>G | CA386293176 | GNPTAB | c.3403G>C (p.Gly1135Arg) n.269G>C c.154G>C (p.Gly52Arg) c.215G>C c.3322G>C (p.Gly1108Arg) c.3187G>C (p.Gly1063Arg) c.2176G>C (p.Gly726Arg) | dbSNP |
| 12 | g.101757243C>T | CA386293177 | GNPTAB | c.3403G>A (p.Gly1135Ser) n.269G>A c.154G>A (p.Gly52Ser) c.215G>A c.3322G>A (p.Gly1108Ser) c.3187G>A (p.Gly1063Ser) c.2176G>A (p.Gly726Ser) | gnomAD v4 |
| 12 | g.101757244A>C | CA481317964 | GNPTAB | c.3402T>G (p.Val1134=) n.268T>G c.153T>G (p.Val51=) c.214T>G c.3321T>G (p.Val1107=) c.3186T>G (p.Val1062=) c.2175T>G (p.Val725=) | |
| 12 | g.101757244A>G | CA481317965 | GNPTAB | c.3402T>C (p.Val1134=) n.268T>C c.153T>C (p.Val51=) c.214T>C c.3321T>C (p.Val1107=) c.3186T>C (p.Val1062=) c.2175T>C (p.Val725=) | |
| 12 | g.101757244A>T | CA481317966 | GNPTAB | c.3402T>A (p.Val1134=) n.268T>A c.153T>A (p.Val51=) c.214T>A c.3321T>A (p.Val1107=) c.3186T>A (p.Val1062=) c.2175T>A (p.Val725=) | |
| 12 | g.101757245A>C | CA386293178 | GNPTAB | c.3401T>G (p.Val1134Gly) n.267T>G c.152T>G (p.Val51Gly) c.213T>G c.3320T>G (p.Val1107Gly) c.3185T>G (p.Val1062Gly) c.2174T>G (p.Val725Gly) | |
| 12 | g.101757245A>G | CA386293179 | GNPTAB | c.3401T>C (p.Val1134Ala) n.267T>C c.152T>C (p.Val51Ala) c.213T>C c.3320T>C (p.Val1107Ala) c.3185T>C (p.Val1062Ala) c.2174T>C (p.Val725Ala) | |
| 12 | g.101757245A>T | CA386293180 | GNPTAB | c.3401T>A (p.Val1134Asp) n.267T>A c.152T>A (p.Val51Asp) c.213T>A c.3320T>A (p.Val1107Asp) c.3185T>A (p.Val1062Asp) c.2174T>A (p.Val725Asp) | |
| 12 | g.101757246C>A | CA386293182 | GNPTAB | c.3400G>T (p.Val1134Phe) n.266G>T c.151G>T (p.Val51Phe) c.212G>T c.3319G>T (p.Val1107Phe) c.3184G>T (p.Val1062Phe) c.2173G>T (p.Val725Phe) | |
| 12 | g.101757246C>G | CA386293183 | GNPTAB | c.3400G>C (p.Val1134Leu) n.266G>C c.151G>C (p.Val51Leu) c.212G>C c.3319G>C (p.Val1107Leu) c.3184G>C (p.Val1062Leu) c.2173G>C (p.Val725Leu) | |
| 12 | g.101757246C>T | CA386293181 | GNPTAB | c.3400G>A (p.Val1134Ile) n.266G>A c.151G>A (p.Val51Ile) c.212G>A c.3319G>A (p.Val1107Ile) c.3184G>A (p.Val1062Ile) c.2173G>A (p.Val725Ile) | |
| 12 | g.101757247C>A | CA481317970 | GNPTAB | c.3399G>T (p.Val1133=) n.265G>T c.150G>T (p.Val50=) c.211G>T c.3318G>T (p.Val1106=) c.3183G>T (p.Val1061=) c.2172G>T (p.Val724=) | |
| 12 | g.101757247C>G | CA481317971 | GNPTAB | c.3399G>C (p.Val1133=) n.265G>C c.150G>C (p.Val50=) c.211G>C c.3318G>C (p.Val1106=) c.3183G>C (p.Val1061=) c.2172G>C (p.Val724=) | |
| 12 | g.101757247C>T | CA481317972 | GNPTAB | c.3399G>A (p.Val1133=) n.265G>A c.150G>A (p.Val50=) c.211G>A c.3318G>A (p.Val1106=) c.3183G>A (p.Val1061=) c.2172G>A (p.Val724=) | |
| 12 | g.101757248A>C | CA386293184 | GNPTAB | c.3398T>G (p.Val1133Gly) n.264T>G c.149T>G (p.Val50Gly) c.210T>G c.3317T>G (p.Val1106Gly) c.3182T>G (p.Val1061Gly) c.2171T>G (p.Val724Gly) | |
| 12 | g.101757248A>G | CA386293185 | GNPTAB | c.3398T>C (p.Val1133Ala) n.264T>C c.149T>C (p.Val50Ala) c.210T>C c.3317T>C (p.Val1106Ala) c.3182T>C (p.Val1061Ala) c.2171T>C (p.Val724Ala) | |
| 12 | g.101757248A>T | CA386293186 | GNPTAB | c.3398T>A (p.Val1133Glu) n.264T>A c.149T>A (p.Val50Glu) c.210T>A c.3317T>A (p.Val1106Glu) c.3182T>A (p.Val1061Glu) c.2171T>A (p.Val724Glu) | |
| 12 | g.101757249C>A | CA386293187 | GNPTAB | c.3397G>T (p.Val1133Leu) n.263G>T c.148G>T (p.Val50Leu) c.209G>T c.3316G>T (p.Val1106Leu) c.3181G>T (p.Val1061Leu) c.2170G>T (p.Val724Leu) | |
| 12 | g.101757249C>G | CA386293188 | GNPTAB | c.3397G>C (p.Val1133Leu) n.263G>C c.148G>C (p.Val50Leu) c.209G>C c.3316G>C (p.Val1106Leu) c.3181G>C (p.Val1061Leu) c.2170G>C (p.Val724Leu) | |
| 12 | g.101757249C>T | CA386293189 | GNPTAB | c.3397G>A (p.Val1133Met) n.263G>A c.148G>A (p.Val50Met) c.209G>A c.3316G>A (p.Val1106Met) c.3181G>A (p.Val1061Met) c.2170G>A (p.Val724Met) | gnomAD v4 |
| 12 | g.101757250A>C | CA386293190 | GNPTAB | c.3396T>G (p.His1132Gln) n.262T>G c.147T>G (p.His49Gln) c.208T>G c.3315T>G (p.His1105Gln) c.3180T>G (p.His1060Gln) c.2169T>G (p.His723Gln) | |
| 12 | g.101757250A>G | CA481317974 | GNPTAB | c.3396T>C (p.His1132=) n.262T>C c.147T>C (p.His49=) c.208T>C c.3315T>C (p.His1105=) c.3180T>C (p.His1060=) c.2169T>C (p.His723=) | |
| 12 | g.101757250A>T | CA386293191 | GNPTAB | c.3396T>A (p.His1132Gln) n.262T>A c.147T>A (p.His49Gln) c.208T>A c.3315T>A (p.His1105Gln) c.3180T>A (p.His1060Gln) c.2169T>A (p.His723Gln) | |
| 12 | g.101757250_101757251del | CA2620427203 | GNPTAB | c.3395_3396del (p.His1132ArgfsTer7) n.261_262del c.146_147del (p.His49ArgfsTer7) c.207_208del c.3314_3315del (p.His1105ArgfsTer7) c.3179_3180del (p.His1060ArgfsTer7) c.2168_2169del (p.His723ArgfsTer7) | gnomAD v4 |