| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21844779_21844790delinsGG | CA2580615150 | ABCC9 | c.3222_3233delinsCC (p.Lys1075LeufsTer4) n.799_810delinsCC c.*2320_*2331delinsCC (n.*2320_*2331delinsCC) n.2723_2734delinsCC c.3171_3182delinsCC (p.Lys1058LeufsTer4) c.2103_2114delinsCC (p.Lys702LeufsTer4) c.3183_3194delinsCC (p.Lys1062LeufsTer4) c.3081_3092delinsCC (p.Lys1028LeufsTer4) c.2355_2366delinsCC (p.Lys786LeufsTer4) | ClinVar |
| 12 | g.21844784T>A | CA478870442 | ABCC9 | c.3228A>T (p.Ile1076=) n.805A>T c.*2326A>T (n.*2326A>T) n.2729A>T c.3177A>T (p.Ile1059=) c.2109A>T (p.Ile703=) c.3189A>T (p.Ile1063=) c.3087A>T (p.Ile1029=) c.2361A>T (p.Ile787=) | |
| 12 | g.21844784T>C | CA384118349 | ABCC9 | c.3228A>G (p.Ile1076Met) n.805A>G c.*2326A>G (n.*2326A>G) n.2729A>G c.3177A>G (p.Ile1059Met) c.2109A>G (p.Ile703Met) c.3189A>G (p.Ile1063Met) c.3087A>G (p.Ile1029Met) c.2361A>G (p.Ile787Met) | |
| 12 | g.21844784T>G | CA478870443 | ABCC9 | c.3228A>C (p.Ile1076=) n.805A>C c.*2326A>C (n.*2326A>C) n.2729A>C c.3177A>C (p.Ile1059=) c.2109A>C (p.Ile703=) c.3189A>C (p.Ile1063=) c.3087A>C (p.Ile1029=) c.2361A>C (p.Ile787=) | |
| 12 | g.21844785A= | CA2021314544 | ABCC9 | c.3227T= (p.Ile1076=) n.804T= c.*2325T= (n.*2325T=) n.2728T= c.3176T= (p.Ile1059=) c.2108T= (p.Ile703=) c.3188T= (p.Ile1063=) c.3086T= (p.Ile1029=) c.2360T= (p.Ile787=) | |
| 12 | g.21844785A>C | CA384118351 | ABCC9 | c.3227T>G (p.Ile1076Arg) n.804T>G c.*2325T>G (n.*2325T>G) n.2728T>G c.3176T>G (p.Ile1059Arg) c.2108T>G (p.Ile703Arg) c.3188T>G (p.Ile1063Arg) c.3086T>G (p.Ile1029Arg) c.2360T>G (p.Ile787Arg) | |
| 12 | g.21844785A>G | CA384118352 | ABCC9 | c.3227T>C (p.Ile1076Thr) n.804T>C c.*2325T>C (n.*2325T>C) n.2728T>C c.3176T>C (p.Ile1059Thr) c.2108T>C (p.Ile703Thr) c.3188T>C (p.Ile1063Thr) c.3086T>C (p.Ile1029Thr) c.2360T>C (p.Ile787Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844785A>T | CA384118354 | ABCC9 | c.3227T>A (p.Ile1076Lys) n.804T>A c.*2325T>A (n.*2325T>A) n.2728T>A c.3176T>A (p.Ile1059Lys) c.2108T>A (p.Ile703Lys) c.3188T>A (p.Ile1063Lys) c.3086T>A (p.Ile1029Lys) c.2360T>A (p.Ile787Lys) | dbSNP gnomAD v2 |
| 12 | g.21844786T>A | CA384118356 | ABCC9 | c.3226A>T (p.Ile1076Leu) n.803A>T c.*2324A>T (n.*2324A>T) n.2727A>T c.3175A>T (p.Ile1059Leu) c.2107A>T (p.Ile703Leu) c.3187A>T (p.Ile1063Leu) c.3085A>T (p.Ile1029Leu) c.2359A>T (p.Ile787Leu) | |
| 12 | g.21844786T>C | CA384118358 | ABCC9 | c.3226A>G (p.Ile1076Val) n.803A>G c.*2324A>G (n.*2324A>G) n.2727A>G c.3175A>G (p.Ile1059Val) c.2107A>G (p.Ile703Val) c.3187A>G (p.Ile1063Val) c.3085A>G (p.Ile1029Val) c.2359A>G (p.Ile787Val) | |
| 12 | g.21844786T>G | CA384118359 | ABCC9 | c.3226A>C (p.Ile1076Leu) n.803A>C c.*2324A>C (n.*2324A>C) n.2727A>C c.3175A>C (p.Ile1059Leu) c.2107A>C (p.Ile703Leu) c.3187A>C (p.Ile1063Leu) c.3085A>C (p.Ile1029Leu) c.2359A>C (p.Ile787Leu) | |
| 12 | g.21844787C>A | CA384118361 | ABCC9 | c.3225G>T (p.Lys1075Asn) n.802G>T c.*2323G>T (n.*2323G>T) n.2726G>T c.3174G>T (p.Lys1058Asn) c.2106G>T (p.Lys702Asn) c.3186G>T (p.Lys1062Asn) c.3084G>T (p.Lys1028Asn) c.2358G>T (p.Lys786Asn) | |
| 12 | g.21844787C= | CA2021314546 | ABCC9 | c.3225G= (p.Lys1075=) n.802G= c.*2323G= (n.*2323G=) n.2726G= c.3174G= (p.Lys1058=) c.2106G= (p.Lys702=) c.3186G= (p.Lys1062=) c.3084G= (p.Lys1028=) c.2358G= (p.Lys786=) | |
| 12 | g.21844787C>G | CA384118362 | ABCC9 | c.3225G>C (p.Lys1075Asn) n.802G>C c.*2323G>C (n.*2323G>C) n.2726G>C c.3174G>C (p.Lys1058Asn) c.2106G>C (p.Lys702Asn) c.3186G>C (p.Lys1062Asn) c.3084G>C (p.Lys1028Asn) c.2358G>C (p.Lys786Asn) | |
| 12 | g.21844787C>T | CA478870446 | ABCC9 | c.3225G>A (p.Lys1075=) n.802G>A c.*2323G>A (n.*2323G>A) n.2726G>A c.3174G>A (p.Lys1058=) c.2106G>A (p.Lys702=) c.3186G>A (p.Lys1062=) c.3084G>A (p.Lys1028=) c.2358G>A (p.Lys786=) | dbSNP |
| 12 | g.21844788T>A | CA384118365 | ABCC9 | c.3224A>T (p.Lys1075Met) n.801A>T c.*2322A>T (n.*2322A>T) n.2725A>T c.3173A>T (p.Lys1058Met) c.2105A>T (p.Lys702Met) c.3185A>T (p.Lys1062Met) c.3083A>T (p.Lys1028Met) c.2357A>T (p.Lys786Met) | |
| 12 | g.21844788T>C | CA384118366 | ABCC9 | c.3224A>G (p.Lys1075Arg) n.801A>G c.*2322A>G (n.*2322A>G) n.2725A>G c.3173A>G (p.Lys1058Arg) c.2105A>G (p.Lys702Arg) c.3185A>G (p.Lys1062Arg) c.3083A>G (p.Lys1028Arg) c.2357A>G (p.Lys786Arg) | |
| 12 | g.21844788T>G | CA384118364 | ABCC9 | c.3224A>C (p.Lys1075Thr) n.801A>C c.*2322A>C (n.*2322A>C) n.2725A>C c.3173A>C (p.Lys1058Thr) c.2105A>C (p.Lys702Thr) c.3185A>C (p.Lys1062Thr) c.3083A>C (p.Lys1028Thr) c.2357A>C (p.Lys786Thr) | |
| 12 | g.21844789T>A | CA384118368 | ABCC9 | c.3223A>T (p.Lys1075Ter) n.800A>T c.*2321A>T (n.*2321A>T) n.2724A>T c.3172A>T (p.Lys1058Ter) c.2104A>T (p.Lys702Ter) c.3184A>T (p.Lys1062Ter) c.3082A>T (p.Lys1028Ter) c.2356A>T (p.Lys786Ter) | |
| 12 | g.21844789T>C | CA384118369 | ABCC9 | c.3223A>G (p.Lys1075Glu) n.800A>G c.*2321A>G (n.*2321A>G) n.2724A>G c.3172A>G (p.Lys1058Glu) c.2104A>G (p.Lys702Glu) c.3184A>G (p.Lys1062Glu) c.3082A>G (p.Lys1028Glu) c.2356A>G (p.Lys786Glu) | |
| 12 | g.21844789T>G | CA384118371 | ABCC9 | c.3223A>C (p.Lys1075Gln) n.800A>C c.*2321A>C (n.*2321A>C) n.2724A>C c.3172A>C (p.Lys1058Gln) c.2104A>C (p.Lys702Gln) c.3184A>C (p.Lys1062Gln) c.3082A>C (p.Lys1028Gln) c.2356A>C (p.Lys786Gln) | |
| 12 | g.21844790A>C | CA384118373 | ABCC9 | c.3222T>G (p.Asn1074Lys) n.799T>G c.*2320T>G (n.*2320T>G) n.2723T>G c.3171T>G (p.Asn1057Lys) c.2103T>G (p.Asn701Lys) c.3183T>G (p.Asn1061Lys) c.3081T>G (p.Asn1027Lys) c.2355T>G (p.Asn785Lys) | |
| 12 | g.21844790A>G | CA478870451 | ABCC9 | c.3222T>C (p.Asn1074=) n.799T>C c.*2320T>C (n.*2320T>C) n.2723T>C c.3171T>C (p.Asn1057=) c.2103T>C (p.Asn701=) c.3183T>C (p.Asn1061=) c.3081T>C (p.Asn1027=) c.2355T>C (p.Asn785=) | |
| 12 | g.21844790A>T | CA384118374 | ABCC9 | c.3222T>A (p.Asn1074Lys) n.799T>A c.*2320T>A (n.*2320T>A) n.2723T>A c.3171T>A (p.Asn1057Lys) c.2103T>A (p.Asn701Lys) c.3183T>A (p.Asn1061Lys) c.3081T>A (p.Asn1027Lys) c.2355T>A (p.Asn785Lys) | |
| 12 | g.21844791T>A | CA384118376 | ABCC9 | c.3221A>T (p.Asn1074Ile) n.798A>T c.*2319A>T (n.*2319A>T) n.2722A>T c.3170A>T (p.Asn1057Ile) c.2102A>T (p.Asn701Ile) c.3182A>T (p.Asn1061Ile) c.3080A>T (p.Asn1027Ile) c.2354A>T (p.Asn785Ile) | |
| 12 | g.21844791T>C | CA6481186 | ABCC9 | c.3221A>G (p.Asn1074Ser) n.798A>G c.*2319A>G (n.*2319A>G) n.2722A>G c.3170A>G (p.Asn1057Ser) c.2102A>G (p.Asn701Ser) c.3182A>G (p.Asn1061Ser) c.3080A>G (p.Asn1027Ser) c.2354A>G (p.Asn785Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844791T>G | CA384118375 | ABCC9 | c.3221A>C (p.Asn1074Thr) n.798A>C c.*2319A>C (n.*2319A>C) n.2722A>C c.3170A>C (p.Asn1057Thr) c.2102A>C (p.Asn701Thr) c.3182A>C (p.Asn1061Thr) c.3080A>C (p.Asn1027Thr) c.2354A>C (p.Asn785Thr) | |
| 12 | g.21844791T= | CA2021314551 | ABCC9 | c.3221A= (p.Asn1074=) n.798A= c.*2319A= (n.*2319A=) n.2722A= c.3170A= (p.Asn1057=) c.2102A= (p.Asn701=) c.3182A= (p.Asn1061=) c.3080A= (p.Asn1027=) c.2354A= (p.Asn785=) | |
| 12 | g.21844792T>A | CA384118377 | ABCC9 | c.3220A>T (p.Asn1074Tyr) n.797A>T c.*2318A>T (n.*2318A>T) n.2721A>T c.3169A>T (p.Asn1057Tyr) c.2101A>T (p.Asn701Tyr) c.3181A>T (p.Asn1061Tyr) c.3079A>T (p.Asn1027Tyr) c.2353A>T (p.Asn785Tyr) | |
| 12 | g.21844792T>C | CA6481187 | ABCC9 | c.3220A>G (p.Asn1074Asp) n.797A>G c.*2318A>G (n.*2318A>G) n.2721A>G c.3169A>G (p.Asn1057Asp) c.2101A>G (p.Asn701Asp) c.3181A>G (p.Asn1061Asp) c.3079A>G (p.Asn1027Asp) c.2353A>G (p.Asn785Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844792T>G | CA384118379 | ABCC9 | c.3220A>C (p.Asn1074His) n.797A>C c.*2318A>C (n.*2318A>C) n.2721A>C c.3169A>C (p.Asn1057His) c.2101A>C (p.Asn701His) c.3181A>C (p.Asn1061His) c.3079A>C (p.Asn1027His) c.2353A>C (p.Asn785His) | |
| 12 | g.21844792T= | CA2021314556 | ABCC9 | c.3220A= (p.Asn1074=) n.797A= c.*2318A= (n.*2318A=) n.2721A= c.3169A= (p.Asn1057=) c.2101A= (p.Asn701=) c.3181A= (p.Asn1061=) c.3079A= (p.Asn1027=) c.2353A= (p.Asn785=) | |
| 12 | g.21844793G>A | CA478870456 | ABCC9 | c.3219C>T (p.Leu1073=) n.796C>T c.*2317C>T (n.*2317C>T) n.2720C>T c.3168C>T (p.Leu1056=) c.2100C>T (p.Leu700=) c.3180C>T (p.Leu1060=) c.3078C>T (p.Leu1026=) c.2352C>T (p.Leu784=) | COSMIC COSMIC |
| 12 | g.21844793G>C | CA233594514 | ABCC9 | c.3219C>G (p.Leu1073=) n.796C>G c.*2317C>G (n.*2317C>G) n.2720C>G c.3168C>G (p.Leu1056=) c.2100C>G (p.Leu700=) c.3180C>G (p.Leu1060=) c.3078C>G (p.Leu1026=) c.2352C>G (p.Leu784=) | dbSNP |
| 12 | g.21844793G= | CA2021314561 | ABCC9 | c.3219C= (p.Leu1073=) n.796C= c.*2317C= (n.*2317C=) n.2720C= c.3168C= (p.Leu1056=) c.2100C= (p.Leu700=) c.3180C= (p.Leu1060=) c.3078C= (p.Leu1026=) c.2352C= (p.Leu784=) | |
| 12 | g.21844793G>T | CA478870457 | ABCC9 | c.3219C>A (p.Leu1073=) n.796C>A c.*2317C>A (n.*2317C>A) n.2720C>A c.3168C>A (p.Leu1056=) c.2100C>A (p.Leu700=) c.3180C>A (p.Leu1060=) c.3078C>A (p.Leu1026=) c.2352C>A (p.Leu784=) | |
| 12 | g.21844794A>C | CA384118381 | ABCC9 | c.3218T>G (p.Leu1073Arg) n.795T>G c.*2316T>G (n.*2316T>G) n.2719T>G c.3167T>G (p.Leu1056Arg) c.2099T>G (p.Leu700Arg) c.3179T>G (p.Leu1060Arg) c.3077T>G (p.Leu1026Arg) c.2351T>G (p.Leu784Arg) | |
| 12 | g.21844794A>G | CA384118383 | ABCC9 | c.3218T>C (p.Leu1073Pro) n.795T>C c.*2316T>C (n.*2316T>C) n.2719T>C c.3167T>C (p.Leu1056Pro) c.2099T>C (p.Leu700Pro) c.3179T>C (p.Leu1060Pro) c.3077T>C (p.Leu1026Pro) c.2351T>C (p.Leu784Pro) | |
| 12 | g.21844794A>T | CA384118384 | ABCC9 | c.3218T>A (p.Leu1073His) n.795T>A c.*2316T>A (n.*2316T>A) n.2719T>A c.3167T>A (p.Leu1056His) c.2099T>A (p.Leu700His) c.3179T>A (p.Leu1060His) c.3077T>A (p.Leu1026His) c.2351T>A (p.Leu784His) | |
| 12 | g.21844795G>A | CA384118386 | ABCC9 | c.3217C>T (p.Leu1073Phe) n.794C>T c.*2315C>T (n.*2315C>T) n.2718C>T c.3166C>T (p.Leu1056Phe) c.2098C>T (p.Leu700Phe) c.3178C>T (p.Leu1060Phe) c.3076C>T (p.Leu1026Phe) c.2350C>T (p.Leu784Phe) | |
| 12 | g.21844795G>C | CA384118389 | ABCC9 | c.3217C>G (p.Leu1073Val) n.794C>G c.*2315C>G (n.*2315C>G) n.2718C>G c.3166C>G (p.Leu1056Val) c.2098C>G (p.Leu700Val) c.3178C>G (p.Leu1060Val) c.3076C>G (p.Leu1026Val) c.2350C>G (p.Leu784Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844795G= | CA2021314564 | ABCC9 | c.3217C= (p.Leu1073=) n.794C= c.*2315C= (n.*2315C=) n.2718C= c.3166C= (p.Leu1056=) c.2098C= (p.Leu700=) c.3178C= (p.Leu1060=) c.3076C= (p.Leu1026=) c.2350C= (p.Leu784=) | |
| 12 | g.21844795G>T | CA384118387 | ABCC9 | c.3217C>A (p.Leu1073Ile) n.794C>A c.*2315C>A (n.*2315C>A) n.2718C>A c.3166C>A (p.Leu1056Ile) c.2098C>A (p.Leu700Ile) c.3178C>A (p.Leu1060Ile) c.3076C>A (p.Leu1026Ile) c.2350C>A (p.Leu784Ile) | |
| 12 | g.21844796A>C | CA478870464 | ABCC9 | c.3216T>G (p.Leu1072=) n.793T>G c.*2314T>G (n.*2314T>G) n.2717T>G c.3165T>G (p.Leu1055=) c.2097T>G (p.Leu699=) c.3177T>G (p.Leu1059=) c.3075T>G (p.Leu1025=) c.2349T>G (p.Leu783=) | |
| 12 | g.21844796A>G | CA478870465 | ABCC9 | c.3216T>C (p.Leu1072=) n.793T>C c.*2314T>C (n.*2314T>C) n.2717T>C c.3165T>C (p.Leu1055=) c.2097T>C (p.Leu699=) c.3177T>C (p.Leu1059=) c.3075T>C (p.Leu1025=) c.2349T>C (p.Leu783=) | |
| 12 | g.21844796A>T | CA478870466 | ABCC9 | c.3216T>A (p.Leu1072=) n.793T>A c.*2314T>A (n.*2314T>A) n.2717T>A c.3165T>A (p.Leu1055=) c.2097T>A (p.Leu699=) c.3177T>A (p.Leu1059=) c.3075T>A (p.Leu1025=) c.2349T>A (p.Leu783=) | |
| 12 | g.21844797A>C | CA384118390 | ABCC9 | c.3215T>G (p.Leu1072Arg) n.792T>G c.*2313T>G (n.*2313T>G) n.2716T>G c.3164T>G (p.Leu1055Arg) c.2096T>G (p.Leu699Arg) c.3176T>G (p.Leu1059Arg) c.3074T>G (p.Leu1025Arg) c.2348T>G (p.Leu783Arg) | |
| 12 | g.21844797A>G | CA384118391 | ABCC9 | c.3215T>C (p.Leu1072Pro) n.792T>C c.*2313T>C (n.*2313T>C) n.2716T>C c.3164T>C (p.Leu1055Pro) c.2096T>C (p.Leu699Pro) c.3176T>C (p.Leu1059Pro) c.3074T>C (p.Leu1025Pro) c.2348T>C (p.Leu783Pro) | |
| 12 | g.21844797A>T | CA384118393 | ABCC9 | c.3215T>A (p.Leu1072His) n.792T>A c.*2313T>A (n.*2313T>A) n.2716T>A c.3164T>A (p.Leu1055His) c.2096T>A (p.Leu699His) c.3176T>A (p.Leu1059His) c.3074T>A (p.Leu1025His) c.2348T>A (p.Leu783His) | |
| 12 | g.21844798G>A | CA384118395 | ABCC9 | c.3214C>T (p.Leu1072Phe) n.791C>T c.*2312C>T (n.*2312C>T) n.2715C>T c.3163C>T (p.Leu1055Phe) c.2095C>T (p.Leu699Phe) c.3175C>T (p.Leu1059Phe) c.3073C>T (p.Leu1025Phe) c.2347C>T (p.Leu783Phe) | dbSNP gnomAD v3 gnomAD v4 |