UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 12 | g.21844798G>C | CA384118396 | ABCC9 | c.3214C>G (p.Leu1072Val) n.791C>G c.*2312C>G (n.*2312C>G) n.2715C>G c.3163C>G (p.Leu1055Val) c.2095C>G (p.Leu699Val) c.3175C>G (p.Leu1059Val) c.3073C>G (p.Leu1025Val) c.2347C>G (p.Leu783Val) | |
| 12 | g.21844798G= | CA2021314568 | ABCC9 | c.3214C= (p.Leu1072=) n.791C= c.*2312C= (n.*2312C=) n.2715C= c.3163C= (p.Leu1055=) c.2095C= (p.Leu699=) c.3175C= (p.Leu1059=) c.3073C= (p.Leu1025=) c.2347C= (p.Leu783=) | |
| 12 | g.21844798G>T | CA384118397 | ABCC9 | c.3214C>A (p.Leu1072Ile) n.791C>A c.*2312C>A (n.*2312C>A) n.2715C>A c.3163C>A (p.Leu1055Ile) c.2095C>A (p.Leu699Ile) c.3175C>A (p.Leu1059Ile) c.3073C>A (p.Leu1025Ile) c.2347C>A (p.Leu783Ile) | |
| 12 | g.21844799G>A | CA478870472 | ABCC9 | c.3213C>T (p.Asn1071=) n.790C>T c.*2311C>T (n.*2311C>T) n.2714C>T c.3162C>T (p.Asn1054=) c.2094C>T (p.Asn698=) c.3174C>T (p.Asn1058=) c.3072C>T (p.Asn1024=) c.2346C>T (p.Asn782=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21844799G>C | CA384118399 | ABCC9 | c.3213C>G (p.Asn1071Lys) n.790C>G c.*2311C>G (n.*2311C>G) n.2714C>G c.3162C>G (p.Asn1054Lys) c.2094C>G (p.Asn698Lys) c.3174C>G (p.Asn1058Lys) c.3072C>G (p.Asn1024Lys) c.2346C>G (p.Asn782Lys) | |
| 12 | g.21844799G= | CA2021314572 | ABCC9 | c.3213C= (p.Asn1071=) n.790C= c.*2311C= (n.*2311C=) n.2714C= c.3162C= (p.Asn1054=) c.2094C= (p.Asn698=) c.3174C= (p.Asn1058=) c.3072C= (p.Asn1024=) c.2346C= (p.Asn782=) | |
| 12 | g.21844799G>T | CA384118400 | ABCC9 | c.3213C>A (p.Asn1071Lys) n.790C>A c.*2311C>A (n.*2311C>A) n.2714C>A c.3162C>A (p.Asn1054Lys) c.2094C>A (p.Asn698Lys) c.3174C>A (p.Asn1058Lys) c.3072C>A (p.Asn1024Lys) c.2346C>A (p.Asn782Lys) | |
| 12 | g.21844800T>A | CA384118402 | ABCC9 | c.3212A>T (p.Asn1071Ile) n.789A>T c.*2310A>T (n.*2310A>T) n.2713A>T c.3161A>T (p.Asn1054Ile) c.2093A>T (p.Asn698Ile) c.3173A>T (p.Asn1058Ile) c.3071A>T (p.Asn1024Ile) c.2345A>T (p.Asn782Ile) | |
| 12 | g.21844800T>C | CA384118404 | ABCC9 | c.3212A>G (p.Asn1071Ser) n.789A>G c.*2310A>G (n.*2310A>G) n.2713A>G c.3161A>G (p.Asn1054Ser) c.2093A>G (p.Asn698Ser) c.3173A>G (p.Asn1058Ser) c.3071A>G (p.Asn1024Ser) c.2345A>G (p.Asn782Ser) | |
| 12 | g.21844800T>G | CA384118405 | ABCC9 | c.3212A>C (p.Asn1071Thr) n.789A>C c.*2310A>C (n.*2310A>C) n.2713A>C c.3161A>C (p.Asn1054Thr) c.2093A>C (p.Asn698Thr) c.3173A>C (p.Asn1058Thr) c.3071A>C (p.Asn1024Thr) c.2345A>C (p.Asn782Thr) | |
| 12 | g.21844801T>A | CA384118410 | ABCC9 | c.3211A>T (p.Asn1071Tyr) n.788A>T c.*2309A>T (n.*2309A>T) n.2712A>T c.3160A>T (p.Asn1054Tyr) c.2092A>T (p.Asn698Tyr) c.3172A>T (p.Asn1058Tyr) c.3070A>T (p.Asn1024Tyr) c.2344A>T (p.Asn782Tyr) | |
| 12 | g.21844801T>C | CA384118409 | ABCC9 | c.3211A>G (p.Asn1071Asp) n.788A>G c.*2309A>G (n.*2309A>G) n.2712A>G c.3160A>G (p.Asn1054Asp) c.2092A>G (p.Asn698Asp) c.3172A>G (p.Asn1058Asp) c.3070A>G (p.Asn1024Asp) c.2344A>G (p.Asn782Asp) | |
| 12 | g.21844801T>G | CA384118407 | ABCC9 | c.3211A>C (p.Asn1071His) n.788A>C c.*2309A>C (n.*2309A>C) n.2712A>C c.3160A>C (p.Asn1054His) c.2092A>C (p.Asn698His) c.3172A>C (p.Asn1058His) c.3070A>C (p.Asn1024His) c.2344A>C (p.Asn782His) | |
| 12 | g.21844802G>A | CA478870479 | ABCC9 | c.3210C>T (p.His1070=) n.787C>T c.*2308C>T (n.*2308C>T) n.2711C>T c.3159C>T (p.His1053=) c.2091C>T (p.His697=) c.3171C>T (p.His1057=) c.3069C>T (p.His1023=) c.2343C>T (p.His781=) | ClinVar |
| 12 | g.21844802G>C | CA384118411 | ABCC9 | c.3210C>G (p.His1070Gln) n.787C>G c.*2308C>G (n.*2308C>G) n.2711C>G c.3159C>G (p.His1053Gln) c.2091C>G (p.His697Gln) c.3171C>G (p.His1057Gln) c.3069C>G (p.His1023Gln) c.2343C>G (p.His781Gln) | |
| 12 | g.21844802G>T | CA384118412 | ABCC9 | c.3210C>A (p.His1070Gln) n.787C>A c.*2308C>A (n.*2308C>A) n.2711C>A c.3159C>A (p.His1053Gln) c.2091C>A (p.His697Gln) c.3171C>A (p.His1057Gln) c.3069C>A (p.His1023Gln) c.2343C>A (p.His781Gln) | |
| 12 | g.21844803T>A | CA384118414 | ABCC9 | c.3209A>T (p.His1070Leu) n.786A>T c.*2307A>T (n.*2307A>T) n.2710A>T c.3158A>T (p.His1053Leu) c.2090A>T (p.His697Leu) c.3170A>T (p.His1057Leu) c.3068A>T (p.His1023Leu) c.2342A>T (p.His781Leu) | |
| 12 | g.21844803T>C | CA384118416 | ABCC9 | c.3209A>G (p.His1070Arg) n.786A>G c.*2307A>G (n.*2307A>G) n.2710A>G c.3158A>G (p.His1053Arg) c.2090A>G (p.His697Arg) c.3170A>G (p.His1057Arg) c.3068A>G (p.His1023Arg) c.2342A>G (p.His781Arg) | gnomAD v4 |
| 12 | g.21844803T>G | CA384118417 | ABCC9 | c.3209A>C (p.His1070Pro) n.786A>C c.*2307A>C (n.*2307A>C) n.2710A>C c.3158A>C (p.His1053Pro) c.2090A>C (p.His697Pro) c.3170A>C (p.His1057Pro) c.3068A>C (p.His1023Pro) c.2342A>C (p.His781Pro) | |
| 12 | g.21844804G>A | CA384118419 | ABCC9 | c.3208C>T (p.His1070Tyr) n.785C>T c.*2306C>T (n.*2306C>T) n.2709C>T c.3157C>T (p.His1053Tyr) c.2089C>T (p.His697Tyr) c.3169C>T (p.His1057Tyr) c.3067C>T (p.His1023Tyr) c.2341C>T (p.His781Tyr) | gnomAD v4 |
| 12 | g.21844804G>C | CA384118420 | ABCC9 | c.3208C>G (p.His1070Asp) n.785C>G c.*2306C>G (n.*2306C>G) n.2709C>G c.3157C>G (p.His1053Asp) c.2089C>G (p.His697Asp) c.3169C>G (p.His1057Asp) c.3067C>G (p.His1023Asp) c.2341C>G (p.His781Asp) | |
| 12 | g.21844804G>T | CA384118422 | ABCC9 | c.3208C>A (p.His1070Asn) n.785C>A c.*2306C>A (n.*2306C>A) n.2709C>A c.3157C>A (p.His1053Asn) c.2089C>A (p.His697Asn) c.3169C>A (p.His1057Asn) c.3067C>A (p.His1023Asn) c.2341C>A (p.His781Asn) | |
| 12 | g.21844805G>A | CA478870484 | ABCC9 | c.3207C>T (p.His1069=) n.784C>T c.*2305C>T (n.*2305C>T) n.2708C>T c.3156C>T (p.His1052=) c.2088C>T (p.His696=) c.3168C>T (p.His1056=) c.3066C>T (p.His1022=) c.2340C>T (p.His780=) | |
| 12 | g.21844805G>C | CA384118425 | ABCC9 | c.3207C>G (p.His1069Gln) n.784C>G c.*2305C>G (n.*2305C>G) n.2708C>G c.3156C>G (p.His1052Gln) c.2088C>G (p.His696Gln) c.3168C>G (p.His1056Gln) c.3066C>G (p.His1022Gln) c.2340C>G (p.His780Gln) | |
| 12 | g.21844805G>T | CA384118424 | ABCC9 | c.3207C>A (p.His1069Gln) n.784C>A c.*2305C>A (n.*2305C>A) n.2708C>A c.3156C>A (p.His1052Gln) c.2088C>A (p.His696Gln) c.3168C>A (p.His1056Gln) c.3066C>A (p.His1022Gln) c.2340C>A (p.His780Gln) | gnomAD v4 |
| 12 | g.21844806T>A | CA384118427 | ABCC9 | c.3206A>T (p.His1069Leu) n.783A>T c.*2304A>T (n.*2304A>T) n.2707A>T c.3155A>T (p.His1052Leu) c.2087A>T (p.His696Leu) c.3167A>T (p.His1056Leu) c.3065A>T (p.His1022Leu) c.2339A>T (p.His780Leu) | |
| 12 | g.21844806T>C | CA384118429 | ABCC9 | c.3206A>G (p.His1069Arg) n.783A>G c.*2304A>G (n.*2304A>G) n.2707A>G c.3155A>G (p.His1052Arg) c.2087A>G (p.His696Arg) c.3167A>G (p.His1056Arg) c.3065A>G (p.His1022Arg) c.2339A>G (p.His780Arg) | |
| 12 | g.21844806T>G | CA384118430 | ABCC9 | c.3206A>C (p.His1069Pro) n.783A>C c.*2304A>C (n.*2304A>C) n.2707A>C c.3155A>C (p.His1052Pro) c.2087A>C (p.His696Pro) c.3167A>C (p.His1056Pro) c.3065A>C (p.His1022Pro) c.2339A>C (p.His780Pro) | |
| 12 | g.21844807G>A | CA384118432 | ABCC9 | c.3205C>T (p.His1069Tyr) n.782C>T c.*2303C>T (n.*2303C>T) n.2706C>T c.3154C>T (p.His1052Tyr) c.2086C>T (p.His696Tyr) c.3166C>T (p.His1056Tyr) c.3064C>T (p.His1022Tyr) c.2338C>T (p.His780Tyr) | |
| 12 | g.21844807G>C | CA384118433 | ABCC9 | c.3205C>G (p.His1069Asp) n.782C>G c.*2303C>G (n.*2303C>G) n.2706C>G c.3154C>G (p.His1052Asp) c.2086C>G (p.His696Asp) c.3166C>G (p.His1056Asp) c.3064C>G (p.His1022Asp) c.2338C>G (p.His780Asp) | |
| 12 | g.21844807G>T | CA384118435 | ABCC9 | c.3205C>A (p.His1069Asn) n.782C>A c.*2303C>A (n.*2303C>A) n.2706C>A c.3154C>A (p.His1052Asn) c.2086C>A (p.His696Asn) c.3166C>A (p.His1056Asn) c.3064C>A (p.His1022Asn) c.2338C>A (p.His780Asn) | |
| 12 | g.21844808A>C | CA478870491 | ABCC9 | c.3204T>G (p.Leu1068=) n.781T>G c.*2302T>G (n.*2302T>G) n.2705T>G c.3153T>G (p.Leu1051=) c.2085T>G (p.Leu695=) c.3165T>G (p.Leu1055=) c.3063T>G (p.Leu1021=) c.2337T>G (p.Leu779=) | |
| 12 | g.21844808A>G | CA478870492 | ABCC9 | c.3204T>C (p.Leu1068=) n.781T>C c.*2302T>C (n.*2302T>C) n.2705T>C c.3153T>C (p.Leu1051=) c.2085T>C (p.Leu695=) c.3165T>C (p.Leu1055=) c.3063T>C (p.Leu1021=) c.2337T>C (p.Leu779=) | ClinVar dbSNP |
| 12 | g.21844808A>T | CA478870493 | ABCC9 | c.3204T>A (p.Leu1068=) n.781T>A c.*2302T>A (n.*2302T>A) n.2705T>A c.3153T>A (p.Leu1051=) c.2085T>A (p.Leu695=) c.3165T>A (p.Leu1055=) c.3063T>A (p.Leu1021=) c.2337T>A (p.Leu779=) | |
| 12 | g.21844809A>C | CA384118438 | ABCC9 | c.3203T>G (p.Leu1068Arg) n.780T>G c.*2301T>G (n.*2301T>G) n.2704T>G c.3152T>G (p.Leu1051Arg) c.2084T>G (p.Leu695Arg) c.3164T>G (p.Leu1055Arg) c.3062T>G (p.Leu1021Arg) c.2336T>G (p.Leu779Arg) | |
| 12 | g.21844809A>G | CA384118440 | ABCC9 | c.3203T>C (p.Leu1068Pro) n.780T>C c.*2301T>C (n.*2301T>C) n.2704T>C c.3152T>C (p.Leu1051Pro) c.2084T>C (p.Leu695Pro) c.3164T>C (p.Leu1055Pro) c.3062T>C (p.Leu1021Pro) c.2336T>C (p.Leu779Pro) | ClinVar dbSNP |
| 12 | g.21844809A>T | CA384118439 | ABCC9 | c.3203T>A (p.Leu1068His) n.780T>A c.*2301T>A (n.*2301T>A) n.2704T>A c.3152T>A (p.Leu1051His) c.2084T>A (p.Leu695His) c.3164T>A (p.Leu1055His) c.3062T>A (p.Leu1021His) c.2336T>A (p.Leu779His) | |
| 12 | g.21844810G>A | CA384118442 | ABCC9 | c.3202C>T (p.Leu1068Phe) n.779C>T c.*2300C>T (n.*2300C>T) n.2703C>T c.3151C>T (p.Leu1051Phe) c.2083C>T (p.Leu695Phe) c.3163C>T (p.Leu1055Phe) c.3061C>T (p.Leu1021Phe) c.2335C>T (p.Leu779Phe) | gnomAD v4 |
| 12 | g.21844810G>C | CA384118444 | ABCC9 | c.3202C>G (p.Leu1068Val) n.779C>G c.*2300C>G (n.*2300C>G) n.2703C>G c.3151C>G (p.Leu1051Val) c.2083C>G (p.Leu695Val) c.3163C>G (p.Leu1055Val) c.3061C>G (p.Leu1021Val) c.2335C>G (p.Leu779Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844810G= | CA2021314579 | ABCC9 | c.3202C= (p.Leu1068=) n.779C= c.*2300C= (n.*2300C=) n.2703C= c.3151C= (p.Leu1051=) c.2083C= (p.Leu695=) c.3163C= (p.Leu1055=) c.3061C= (p.Leu1021=) c.2335C= (p.Leu779=) | |
| 12 | g.21844810G>T | CA384118446 | ABCC9 | c.3202C>A (p.Leu1068Ile) n.779C>A c.*2300C>A (n.*2300C>A) n.2703C>A c.3151C>A (p.Leu1051Ile) c.2083C>A (p.Leu695Ile) c.3163C>A (p.Leu1055Ile) c.3061C>A (p.Leu1021Ile) c.2335C>A (p.Leu779Ile) | |
| 12 | g.21844810_21844811delinsGA | CA2021314577 | ABCC9 | c.3201_3202delinsTC (p.Asn1067=) n.778_779delinsTC c.*2299_*2300delinsTC (n.*2299_*2300delinsTC) n.2702_2703delinsTC c.3150_3151delinsTC (p.Asn1050=) c.2082_2083delinsTC (p.Asn694=) c.3162_3163delinsTC (p.Asn1054=) c.3060_3061delinsTC (p.Asn1020=) c.2334_2335delinsTC (p.Asn778=) | |
| 12 | g.21844811del | CA308211 | ABCC9 | c.3201del (p.Leu1068PhefsTer9) n.778del c.*2299del (n.*2299del) n.2702del c.3150del (p.Leu1051PhefsTer9) c.2082del (p.Leu695PhefsTer9) c.3162del (p.Leu1055PhefsTer9) c.3060del (p.Leu1021PhefsTer9) c.2334del (p.Leu779PhefsTer9) | ClinVar dbSNP |
| 12 | g.21844811A= | CA2021314585 | ABCC9 | c.3201T= (p.Asn1067=) n.778T= c.*2299T= (n.*2299T=) n.2702T= c.3150T= (p.Asn1050=) c.2082T= (p.Asn694=) c.3162T= (p.Asn1054=) c.3060T= (p.Asn1020=) c.2334T= (p.Asn778=) | |
| 12 | g.21844811A>C | CA384118448 | ABCC9 | c.3201T>G (p.Asn1067Lys) n.778T>G c.*2299T>G (n.*2299T>G) n.2702T>G c.3150T>G (p.Asn1050Lys) c.2082T>G (p.Asn694Lys) c.3162T>G (p.Asn1054Lys) c.3060T>G (p.Asn1020Lys) c.2334T>G (p.Asn778Lys) | |
| 12 | g.21844811A>G | CA6481188 | ABCC9 | c.3201T>C (p.Asn1067=) n.778T>C c.*2299T>C (n.*2299T>C) n.2702T>C c.3150T>C (p.Asn1050=) c.2082T>C (p.Asn694=) c.3162T>C (p.Asn1054=) c.3060T>C (p.Asn1020=) c.2334T>C (p.Asn778=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844811A>T | CA384118451 | ABCC9 | c.3201T>A (p.Asn1067Lys) n.778T>A c.*2299T>A (n.*2299T>A) n.2702T>A c.3150T>A (p.Asn1050Lys) c.2082T>A (p.Asn694Lys) c.3162T>A (p.Asn1054Lys) c.3060T>A (p.Asn1020Lys) c.2334T>A (p.Asn778Lys) | |
| 12 | g.21844811dup | CA2617930558 | ABCC9 | c.3201dup (p.Leu1068SerfsTer8) n.778dup c.*2299dup (n.*2299dup) n.2702dup c.3150dup (p.Leu1051SerfsTer8) c.2082dup (p.Leu695SerfsTer8) c.3162dup (p.Leu1055SerfsTer8) c.3060dup (p.Leu1021SerfsTer8) c.2334dup (p.Leu779SerfsTer8) | gnomAD v4 |
| 12 | g.21844812T>A | CA384118453 | ABCC9 | c.3200A>T (p.Asn1067Ile) n.777A>T c.*2298A>T (n.*2298A>T) n.2701A>T c.3149A>T (p.Asn1050Ile) c.2081A>T (p.Asn694Ile) c.3161A>T (p.Asn1054Ile) c.3059A>T (p.Asn1020Ile) c.2333A>T (p.Asn778Ile) | |
| 12 | g.21844812T>C | CA384118454 | ABCC9 | c.3200A>G (p.Asn1067Ser) n.777A>G c.*2298A>G (n.*2298A>G) n.2701A>G c.3149A>G (p.Asn1050Ser) c.2081A>G (p.Asn694Ser) c.3161A>G (p.Asn1054Ser) c.3059A>G (p.Asn1020Ser) c.2333A>G (p.Asn778Ser) | dbSNP |
| 12 | g.21844812T>G | CA384118457 | ABCC9 | c.3200A>C (p.Asn1067Thr) n.777A>C c.*2298A>C (n.*2298A>C) n.2701A>C c.3149A>C (p.Asn1050Thr) c.2081A>C (p.Asn694Thr) c.3161A>C (p.Asn1054Thr) c.3059A>C (p.Asn1020Thr) c.2333A>C (p.Asn778Thr) | |
| 12 | g.21844812T= | CA2021314588 | ABCC9 | c.3200A= (p.Asn1067=) n.777A= c.*2298A= (n.*2298A=) n.2701A= c.3149A= (p.Asn1050=) c.2081A= (p.Asn694=) c.3161A= (p.Asn1054=) c.3059A= (p.Asn1020=) c.2333A= (p.Asn778=) | |
| 12 | g.21844813T>A | CA384118465 | ABCC9 | c.3199A>T (p.Asn1067Tyr) n.776A>T c.*2297A>T (n.*2297A>T) n.2700A>T c.3148A>T (p.Asn1050Tyr) c.2080A>T (p.Asn694Tyr) c.3160A>T (p.Asn1054Tyr) c.3058A>T (p.Asn1020Tyr) c.2332A>T (p.Asn778Tyr) | |
| 12 | g.21844813T>C | CA384118463 | ABCC9 | c.3199A>G (p.Asn1067Asp) n.776A>G c.*2297A>G (n.*2297A>G) n.2700A>G c.3148A>G (p.Asn1050Asp) c.2080A>G (p.Asn694Asp) c.3160A>G (p.Asn1054Asp) c.3058A>G (p.Asn1020Asp) c.2332A>G (p.Asn778Asp) | |
| 12 | g.21844813T>G | CA384118460 | ABCC9 | c.3199A>C (p.Asn1067His) n.776A>C c.*2297A>C (n.*2297A>C) n.2700A>C c.3148A>C (p.Asn1050His) c.2080A>C (p.Asn694His) c.3160A>C (p.Asn1054His) c.3058A>C (p.Asn1020His) c.2332A>C (p.Asn778His) | |
| 12 | g.21844814T>A | CA384118468 | ABCC9 | c.3198A>T (p.Lys1066Asn) n.775A>T c.*2296A>T (n.*2296A>T) n.2699A>T c.3147A>T (p.Lys1049Asn) c.2079A>T (p.Lys693Asn) c.3159A>T (p.Lys1053Asn) c.3057A>T (p.Lys1019Asn) c.2331A>T (p.Lys777Asn) | |
| 12 | g.21844814T>C | CA478870500 | ABCC9 | c.3198A>G (p.Lys1066=) n.775A>G c.*2296A>G (n.*2296A>G) n.2699A>G c.3147A>G (p.Lys1049=) c.2079A>G (p.Lys693=) c.3159A>G (p.Lys1053=) c.3057A>G (p.Lys1019=) c.2331A>G (p.Lys777=) | |
| 12 | g.21844814T>G | CA384118471 | ABCC9 | c.3198A>C (p.Lys1066Asn) n.775A>C c.*2296A>C (n.*2296A>C) n.2699A>C c.3147A>C (p.Lys1049Asn) c.2079A>C (p.Lys693Asn) c.3159A>C (p.Lys1053Asn) c.3057A>C (p.Lys1019Asn) c.2331A>C (p.Lys777Asn) | |
| 12 | g.21844815T>A | CA384118474 | ABCC9 | c.3197A>T (p.Lys1066Ile) n.774A>T c.*2295A>T (n.*2295A>T) n.2698A>T c.3146A>T (p.Lys1049Ile) c.2078A>T (p.Lys693Ile) c.3158A>T (p.Lys1053Ile) c.3056A>T (p.Lys1019Ile) c.2330A>T (p.Lys777Ile) | |
| 12 | g.21844815T>C | CA384118477 | ABCC9 | c.3197A>G (p.Lys1066Arg) n.774A>G c.*2295A>G (n.*2295A>G) n.2698A>G c.3146A>G (p.Lys1049Arg) c.2078A>G (p.Lys693Arg) c.3158A>G (p.Lys1053Arg) c.3056A>G (p.Lys1019Arg) c.2330A>G (p.Lys777Arg) | COSMIC COSMIC |
| 12 | g.21844815T>G | CA384118479 | ABCC9 | c.3197A>C (p.Lys1066Thr) n.774A>C c.*2295A>C (n.*2295A>C) n.2698A>C c.3146A>C (p.Lys1049Thr) c.2078A>C (p.Lys693Thr) c.3158A>C (p.Lys1053Thr) c.3056A>C (p.Lys1019Thr) c.2330A>C (p.Lys777Thr) | COSMIC COSMIC |
| 12 | g.21844816T>A | CA384118481 | ABCC9 | c.3196A>T (p.Lys1066Ter) n.773A>T c.*2294A>T (n.*2294A>T) n.2697A>T c.3145A>T (p.Lys1049Ter) c.2077A>T (p.Lys693Ter) c.3157A>T (p.Lys1053Ter) c.3055A>T (p.Lys1019Ter) c.2329A>T (p.Lys777Ter) | |
| 12 | g.21844816T>C | CA384118484 | ABCC9 | c.3196A>G (p.Lys1066Glu) n.773A>G c.*2294A>G (n.*2294A>G) n.2697A>G c.3145A>G (p.Lys1049Glu) c.2077A>G (p.Lys693Glu) c.3157A>G (p.Lys1053Glu) c.3055A>G (p.Lys1019Glu) c.2329A>G (p.Lys777Glu) | |
| 12 | g.21844816T>G | CA384118486 | ABCC9 | c.3196A>C (p.Lys1066Gln) n.773A>C c.*2294A>C (n.*2294A>C) n.2697A>C c.3145A>C (p.Lys1049Gln) c.2077A>C (p.Lys693Gln) c.3157A>C (p.Lys1053Gln) c.3055A>C (p.Lys1019Gln) c.2329A>C (p.Lys777Gln) | |
| 12 | g.21844817G>A | CA478870503 | ABCC9 | c.3195C>T (p.Ala1065=) n.772C>T c.*2293C>T (n.*2293C>T) n.2696C>T c.3144C>T (p.Ala1048=) c.2076C>T (p.Ala692=) c.3156C>T (p.Ala1052=) c.3054C>T (p.Ala1018=) c.2328C>T (p.Ala776=) | gnomAD v4 |
| 12 | g.21844817G>C | CA478870505 | ABCC9 | c.3195C>G (p.Ala1065=) n.772C>G c.*2293C>G (n.*2293C>G) n.2696C>G c.3144C>G (p.Ala1048=) c.2076C>G (p.Ala692=) c.3156C>G (p.Ala1052=) c.3054C>G (p.Ala1018=) c.2328C>G (p.Ala776=) | dbSNP COSMIC COSMIC |
| 12 | g.21844817G= | CA2021314589 | ABCC9 | c.3195C= (p.Ala1065=) n.772C= c.*2293C= (n.*2293C=) n.2696C= c.3144C= (p.Ala1048=) c.2076C= (p.Ala692=) c.3156C= (p.Ala1052=) c.3054C= (p.Ala1018=) c.2328C= (p.Ala776=) | |
| 12 | g.21844817G>T | CA478870507 | ABCC9 | c.3195C>A (p.Ala1065=) n.772C>A c.*2293C>A (n.*2293C>A) n.2696C>A c.3144C>A (p.Ala1048=) c.2076C>A (p.Ala692=) c.3156C>A (p.Ala1052=) c.3054C>A (p.Ala1018=) c.2328C>A (p.Ala776=) | dbSNP |
| 12 | g.21844818G>A | CA384118487 | ABCC9 | c.3194C>T (p.Ala1065Val) n.771C>T c.*2292C>T (n.*2292C>T) n.2695C>T c.3143C>T (p.Ala1048Val) c.2075C>T (p.Ala692Val) c.3155C>T (p.Ala1052Val) c.3053C>T (p.Ala1018Val) c.2327C>T (p.Ala776Val) | |
| 12 | g.21844818G>C | CA384118490 | ABCC9 | c.3194C>G (p.Ala1065Gly) n.771C>G c.*2292C>G (n.*2292C>G) n.2695C>G c.3143C>G (p.Ala1048Gly) c.2075C>G (p.Ala692Gly) c.3155C>G (p.Ala1052Gly) c.3053C>G (p.Ala1018Gly) c.2327C>G (p.Ala776Gly) | |
| 12 | g.21844818G>T | CA384118491 | ABCC9 | c.3194C>A (p.Ala1065Asp) n.771C>A c.*2292C>A (n.*2292C>A) n.2695C>A c.3143C>A (p.Ala1048Asp) c.2075C>A (p.Ala692Asp) c.3155C>A (p.Ala1052Asp) c.3053C>A (p.Ala1018Asp) c.2327C>A (p.Ala776Asp) | |
| 12 | g.21844819C>A | CA384118494 | ABCC9 | c.3193G>T (p.Ala1065Ser) n.770G>T c.*2291G>T (n.*2291G>T) n.2694G>T c.3142G>T (p.Ala1048Ser) c.2074G>T (p.Ala692Ser) c.3154G>T (p.Ala1052Ser) c.3052G>T (p.Ala1018Ser) c.2326G>T (p.Ala776Ser) | |
| 12 | g.21844819C>G | CA384118496 | ABCC9 | c.3193G>C (p.Ala1065Pro) n.770G>C c.*2291G>C (n.*2291G>C) n.2694G>C c.3142G>C (p.Ala1048Pro) c.2074G>C (p.Ala692Pro) c.3154G>C (p.Ala1052Pro) c.3052G>C (p.Ala1018Pro) c.2326G>C (p.Ala776Pro) | |
| 12 | g.21844819C>T | CA384118498 | ABCC9 | c.3193G>A (p.Ala1065Thr) n.770G>A c.*2291G>A (n.*2291G>A) n.2694G>A c.3142G>A (p.Ala1048Thr) c.2074G>A (p.Ala692Thr) c.3154G>A (p.Ala1052Thr) c.3052G>A (p.Ala1018Thr) c.2326G>A (p.Ala776Thr) | |
| 12 | g.21844820A= | CA2021314590 | ABCC9 | c.3192T= (p.Ala1064=) n.769T= c.*2290T= (n.*2290T=) n.2693T= c.3141T= (p.Ala1047=) c.2073T= (p.Ala691=) c.3153T= (p.Ala1051=) c.3051T= (p.Ala1017=) c.2325T= (p.Ala775=) | |
| 12 | g.21844820A>C | CA478870510 | ABCC9 | c.3192T>G (p.Ala1064=) n.769T>G c.*2290T>G (n.*2290T>G) n.2693T>G c.3141T>G (p.Ala1047=) c.2073T>G (p.Ala691=) c.3153T>G (p.Ala1051=) c.3051T>G (p.Ala1017=) c.2325T>G (p.Ala775=) | |
| 12 | g.21844820A>G | CA478870511 | ABCC9 | c.3192T>C (p.Ala1064=) n.769T>C c.*2290T>C (n.*2290T>C) n.2693T>C c.3141T>C (p.Ala1047=) c.2073T>C (p.Ala691=) c.3153T>C (p.Ala1051=) c.3051T>C (p.Ala1017=) c.2325T>C (p.Ala775=) | |
| 12 | g.21844820A>T | CA233594522 | ABCC9 | c.3192T>A (p.Ala1064=) n.769T>A c.*2290T>A (n.*2290T>A) n.2693T>A c.3141T>A (p.Ala1047=) c.2073T>A (p.Ala691=) c.3153T>A (p.Ala1051=) c.3051T>A (p.Ala1017=) c.2325T>A (p.Ala775=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844821G>A | CA384118502 | ABCC9 | c.3191C>T (p.Ala1064Val) n.768C>T c.*2289C>T (n.*2289C>T) n.2692C>T c.3140C>T (p.Ala1047Val) c.2072C>T (p.Ala691Val) c.3152C>T (p.Ala1051Val) c.3050C>T (p.Ala1017Val) c.2324C>T (p.Ala775Val) | |
| 12 | g.21844821G>C | CA384118504 | ABCC9 | c.3191C>G (p.Ala1064Gly) n.768C>G c.*2289C>G (n.*2289C>G) n.2692C>G c.3140C>G (p.Ala1047Gly) c.2072C>G (p.Ala691Gly) c.3152C>G (p.Ala1051Gly) c.3050C>G (p.Ala1017Gly) c.2324C>G (p.Ala775Gly) | |
| 12 | g.21844821G= | CA2021314591 | ABCC9 | c.3191C= (p.Ala1064=) n.768C= c.*2289C= (n.*2289C=) n.2692C= c.3140C= (p.Ala1047=) c.2072C= (p.Ala691=) c.3152C= (p.Ala1051=) c.3050C= (p.Ala1017=) c.2324C= (p.Ala775=) | |
| 12 | g.21844821G>T | CA384118506 | ABCC9 | c.3191C>A (p.Ala1064Asp) n.768C>A c.*2289C>A (n.*2289C>A) n.2692C>A c.3140C>A (p.Ala1047Asp) c.2072C>A (p.Ala691Asp) c.3152C>A (p.Ala1051Asp) c.3050C>A (p.Ala1017Asp) c.2324C>A (p.Ala775Asp) | dbSNP |
| 12 | g.21844822C>A | CA384118508 | ABCC9 | c.3190G>T (p.Ala1064Ser) n.767G>T c.*2288G>T (n.*2288G>T) n.2691G>T c.3139G>T (p.Ala1047Ser) c.2071G>T (p.Ala691Ser) c.3151G>T (p.Ala1051Ser) c.3049G>T (p.Ala1017Ser) c.2323G>T (p.Ala775Ser) | |
| 12 | g.21844822C= | CA2021314592 | ABCC9 | c.3190G= (p.Ala1064=) n.767G= c.*2288G= (n.*2288G=) n.2691G= c.3139G= (p.Ala1047=) c.2071G= (p.Ala691=) c.3151G= (p.Ala1051=) c.3049G= (p.Ala1017=) c.2323G= (p.Ala775=) | |
| 12 | g.21844822C>G | CA384118511 | ABCC9 | c.3190G>C (p.Ala1064Pro) n.767G>C c.*2288G>C (n.*2288G>C) n.2691G>C c.3139G>C (p.Ala1047Pro) c.2071G>C (p.Ala691Pro) c.3151G>C (p.Ala1051Pro) c.3049G>C (p.Ala1017Pro) c.2323G>C (p.Ala775Pro) | ClinVar dbSNP |
| 12 | g.21844822C>T | CA384118517 | ABCC9 | c.3190G>A (p.Ala1064Thr) n.767G>A c.*2288G>A (n.*2288G>A) n.2691G>A c.3139G>A (p.Ala1047Thr) c.2071G>A (p.Ala691Thr) c.3151G>A (p.Ala1051Thr) c.3049G>A (p.Ala1017Thr) c.2323G>A (p.Ala775Thr) | |
| 12 | g.21844823T>A | CA478870517 | ABCC9 | c.3189A>T (p.Thr1063=) n.766A>T c.*2287A>T (n.*2287A>T) n.2690A>T c.3138A>T (p.Thr1046=) c.2070A>T (p.Thr690=) c.3150A>T (p.Thr1050=) c.3048A>T (p.Thr1016=) c.2322A>T (p.Thr774=) | |
| 12 | g.21844823T>C | CA478870520 | ABCC9 | c.3189A>G (p.Thr1063=) n.766A>G c.*2287A>G (n.*2287A>G) n.2690A>G c.3138A>G (p.Thr1046=) c.2070A>G (p.Thr690=) c.3150A>G (p.Thr1050=) c.3048A>G (p.Thr1016=) c.2322A>G (p.Thr774=) | |
| 12 | g.21844823T>G | CA478870519 | ABCC9 | c.3189A>C (p.Thr1063=) n.766A>C c.*2287A>C (n.*2287A>C) n.2690A>C c.3138A>C (p.Thr1046=) c.2070A>C (p.Thr690=) c.3150A>C (p.Thr1050=) c.3048A>C (p.Thr1016=) c.2322A>C (p.Thr774=) | |
| 12 | g.21844824G>A | CA6481189 | ABCC9 | c.3188C>T (p.Thr1063Ile) n.765C>T c.*2286C>T (n.*2286C>T) n.2689C>T c.3137C>T (p.Thr1046Ile) c.2069C>T (p.Thr690Ile) c.3149C>T (p.Thr1050Ile) c.3047C>T (p.Thr1016Ile) c.2321C>T (p.Thr774Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844824G>C | CA384118522 | ABCC9 | c.3188C>G (p.Thr1063Arg) n.765C>G c.*2286C>G (n.*2286C>G) n.2689C>G c.3137C>G (p.Thr1046Arg) c.2069C>G (p.Thr690Arg) c.3149C>G (p.Thr1050Arg) c.3047C>G (p.Thr1016Arg) c.2321C>G (p.Thr774Arg) | gnomAD v4 |
| 12 | g.21844824G= | CA2021314595 | ABCC9 | c.3188C= (p.Thr1063=) n.765C= c.*2286C= (n.*2286C=) n.2689C= c.3137C= (p.Thr1046=) c.2069C= (p.Thr690=) c.3149C= (p.Thr1050=) c.3047C= (p.Thr1016=) c.2321C= (p.Thr774=) | |
| 12 | g.21844824G>T | CA384118523 | ABCC9 | c.3188C>A (p.Thr1063Lys) n.765C>A c.*2286C>A (n.*2286C>A) n.2689C>A c.3137C>A (p.Thr1046Lys) c.2069C>A (p.Thr690Lys) c.3149C>A (p.Thr1050Lys) c.3047C>A (p.Thr1016Lys) c.2321C>A (p.Thr774Lys) | |
| 12 | g.21844825T>A | CA384118526 | ABCC9 | c.3187A>T (p.Thr1063Ser) n.764A>T c.*2285A>T (n.*2285A>T) n.2688A>T c.3136A>T (p.Thr1046Ser) c.2068A>T (p.Thr690Ser) c.3148A>T (p.Thr1050Ser) c.3046A>T (p.Thr1016Ser) c.2320A>T (p.Thr774Ser) | gnomAD v4 |
| 12 | g.21844825T>C | CA384118528 | ABCC9 | c.3187A>G (p.Thr1063Ala) n.764A>G c.*2285A>G (n.*2285A>G) n.2688A>G c.3136A>G (p.Thr1046Ala) c.2068A>G (p.Thr690Ala) c.3148A>G (p.Thr1050Ala) c.3046A>G (p.Thr1016Ala) c.2320A>G (p.Thr774Ala) | |
| 12 | g.21844825T>G | CA384118531 | ABCC9 | c.3187A>C (p.Thr1063Pro) n.764A>C c.*2285A>C (n.*2285A>C) n.2688A>C c.3136A>C (p.Thr1046Pro) c.2068A>C (p.Thr690Pro) c.3148A>C (p.Thr1050Pro) c.3046A>C (p.Thr1016Pro) c.2320A>C (p.Thr774Pro) | |
| 12 | g.21844826G>A | CA478870527 | ABCC9 | c.3186C>T (p.Leu1062=) n.763C>T c.*2284C>T (n.*2284C>T) n.2687C>T c.3135C>T (p.Leu1045=) c.2067C>T (p.Leu689=) c.3147C>T (p.Leu1049=) c.3045C>T (p.Leu1015=) c.2319C>T (p.Leu773=) | |
| 12 | g.21844826G>C | CA478870528 | ABCC9 | c.3186C>G (p.Leu1062=) n.763C>G c.*2284C>G (n.*2284C>G) n.2687C>G c.3135C>G (p.Leu1045=) c.2067C>G (p.Leu689=) c.3147C>G (p.Leu1049=) c.3045C>G (p.Leu1015=) c.2319C>G (p.Leu773=) | gnomAD v4 |
| 12 | g.21844826G= | CA2021314598 | ABCC9 | c.3186C= (p.Leu1062=) n.763C= c.*2284C= (n.*2284C=) n.2687C= c.3135C= (p.Leu1045=) c.2067C= (p.Leu689=) c.3147C= (p.Leu1049=) c.3045C= (p.Leu1015=) c.2319C= (p.Leu773=) | |
| 12 | g.21844826G>T | CA478870529 | ABCC9 | c.3186C>A (p.Leu1062=) n.763C>A c.*2284C>A (n.*2284C>A) n.2687C>A c.3135C>A (p.Leu1045=) c.2067C>A (p.Leu689=) c.3147C>A (p.Leu1049=) c.3045C>A (p.Leu1015=) c.2319C>A (p.Leu773=) | dbSNP |
| 12 | g.21844827A>C | CA384118536 | ABCC9 | c.3185T>G (p.Leu1062Arg) n.762T>G c.*2283T>G (n.*2283T>G) n.2686T>G c.3134T>G (p.Leu1045Arg) c.2066T>G (p.Leu689Arg) c.3146T>G (p.Leu1049Arg) c.3044T>G (p.Leu1015Arg) c.2318T>G (p.Leu773Arg) | |
| 12 | g.21844827A>G | CA384118535 | ABCC9 | c.3185T>C (p.Leu1062Pro) n.762T>C c.*2283T>C (n.*2283T>C) n.2686T>C c.3134T>C (p.Leu1045Pro) c.2066T>C (p.Leu689Pro) c.3146T>C (p.Leu1049Pro) c.3044T>C (p.Leu1015Pro) c.2318T>C (p.Leu773Pro) | |
| 12 | g.21844827A>T | CA384118533 | ABCC9 | c.3185T>A (p.Leu1062His) n.762T>A c.*2283T>A (n.*2283T>A) n.2686T>A c.3134T>A (p.Leu1045His) c.2066T>A (p.Leu689His) c.3146T>A (p.Leu1049His) c.3044T>A (p.Leu1015His) c.2318T>A (p.Leu773His) | |
| 12 | g.21844828G>A | CA384118537 | ABCC9 | c.3184C>T (p.Leu1062Phe) n.761C>T c.*2282C>T (n.*2282C>T) n.2685C>T c.3133C>T (p.Leu1045Phe) c.2065C>T (p.Leu689Phe) c.3145C>T (p.Leu1049Phe) c.3043C>T (p.Leu1015Phe) c.2317C>T (p.Leu773Phe) | |
| 12 | g.21844828G>C | CA384118543 | ABCC9 | c.3184C>G (p.Leu1062Val) n.761C>G c.*2282C>G (n.*2282C>G) n.2685C>G c.3133C>G (p.Leu1045Val) c.2065C>G (p.Leu689Val) c.3145C>G (p.Leu1049Val) c.3043C>G (p.Leu1015Val) c.2317C>G (p.Leu773Val) | gnomAD v4 |
| 12 | g.21844828G>T | CA384118540 | ABCC9 | c.3184C>A (p.Leu1062Ile) n.761C>A c.*2282C>A (n.*2282C>A) n.2685C>A c.3133C>A (p.Leu1045Ile) c.2065C>A (p.Leu689Ile) c.3145C>A (p.Leu1049Ile) c.3043C>A (p.Leu1015Ile) c.2317C>A (p.Leu773Ile) | |
| 12 | g.21844829A>C | CA478870536 | ABCC9 | c.3183T>G (p.Gly1061=) n.760T>G c.*2281T>G (n.*2281T>G) n.2684T>G c.3132T>G (p.Gly1044=) c.2064T>G (p.Gly688=) c.3144T>G (p.Gly1048=) c.3042T>G (p.Gly1014=) c.2316T>G (p.Gly772=) | |
| 12 | g.21844829A>G | CA478870537 | ABCC9 | c.3183T>C (p.Gly1061=) n.760T>C c.*2281T>C (n.*2281T>C) n.2684T>C c.3132T>C (p.Gly1044=) c.2064T>C (p.Gly688=) c.3144T>C (p.Gly1048=) c.3042T>C (p.Gly1014=) c.2316T>C (p.Gly772=) | |
| 12 | g.21844829A>T | CA478870538 | ABCC9 | c.3183T>A (p.Gly1061=) n.760T>A c.*2281T>A (n.*2281T>A) n.2684T>A c.3132T>A (p.Gly1044=) c.2064T>A (p.Gly688=) c.3144T>A (p.Gly1048=) c.3042T>A (p.Gly1014=) c.2316T>A (p.Gly772=) | |
| 12 | g.21844830C>A | CA384118545 | ABCC9 | c.3182G>T (p.Gly1061Val) n.759G>T c.*2280G>T (n.*2280G>T) n.2683G>T c.3131G>T (p.Gly1044Val) c.2063G>T (p.Gly688Val) c.3143G>T (p.Gly1048Val) c.3041G>T (p.Gly1014Val) c.2315G>T (p.Gly772Val) | |
| 12 | g.21844830C>G | CA384118549 | ABCC9 | c.3182G>C (p.Gly1061Ala) n.759G>C c.*2280G>C (n.*2280G>C) n.2683G>C c.3131G>C (p.Gly1044Ala) c.2063G>C (p.Gly688Ala) c.3143G>C (p.Gly1048Ala) c.3041G>C (p.Gly1014Ala) c.2315G>C (p.Gly772Ala) | |
| 12 | g.21844830C>T | CA384118547 | ABCC9 | c.3182G>A (p.Gly1061Asp) n.759G>A c.*2280G>A (n.*2280G>A) n.2683G>A c.3131G>A (p.Gly1044Asp) c.2063G>A (p.Gly688Asp) c.3143G>A (p.Gly1048Asp) c.3041G>A (p.Gly1014Asp) c.2315G>A (p.Gly772Asp) | COSMIC COSMIC |
| 12 | g.21844831C>A | CA384118551 | ABCC9 | c.3181G>T (p.Gly1061Cys) n.758G>T c.*2279G>T (n.*2279G>T) n.2682G>T c.3130G>T (p.Gly1044Cys) c.2062G>T (p.Gly688Cys) c.3142G>T (p.Gly1048Cys) c.3040G>T (p.Gly1014Cys) c.2314G>T (p.Gly772Cys) | |
| 12 | g.21844831C= | CA2021314600 | ABCC9 | c.3181G= (p.Gly1061=) n.758G= c.*2279G= (n.*2279G=) n.2682G= c.3130G= (p.Gly1044=) c.2062G= (p.Gly688=) c.3142G= (p.Gly1048=) c.3040G= (p.Gly1014=) c.2314G= (p.Gly772=) | |
| 12 | g.21844831C>G | CA384118556 | ABCC9 | c.3181G>C (p.Gly1061Arg) n.758G>C c.*2279G>C (n.*2279G>C) n.2682G>C c.3130G>C (p.Gly1044Arg) c.2062G>C (p.Gly688Arg) c.3142G>C (p.Gly1048Arg) c.3040G>C (p.Gly1014Arg) c.2314G>C (p.Gly772Arg) | |
| 12 | g.21844831C>T | CA384118554 | ABCC9 | c.3181G>A (p.Gly1061Ser) n.758G>A c.*2279G>A (n.*2279G>A) n.2682G>A c.3130G>A (p.Gly1044Ser) c.2062G>A (p.Gly688Ser) c.3142G>A (p.Gly1048Ser) c.3040G>A (p.Gly1014Ser) c.2314G>A (p.Gly772Ser) | dbSNP |
| 12 | g.21844832C>A | CA384118559 | ABCC9 | c.3180G>T (p.Met1060Ile) n.757G>T c.*2278G>T (n.*2278G>T) n.2681G>T c.3129G>T (p.Met1043Ile) c.2061G>T (p.Met687Ile) c.3141G>T (p.Met1047Ile) c.3039G>T (p.Met1013Ile) c.2313G>T (p.Met771Ile) | |
| 12 | g.21844832C>G | CA384118562 | ABCC9 | c.3180G>C (p.Met1060Ile) n.757G>C c.*2278G>C (n.*2278G>C) n.2681G>C c.3129G>C (p.Met1043Ile) c.2061G>C (p.Met687Ile) c.3141G>C (p.Met1047Ile) c.3039G>C (p.Met1013Ile) c.2313G>C (p.Met771Ile) | |
| 12 | g.21844832C>T | CA384118560 | ABCC9 | c.3180G>A (p.Met1060Ile) n.757G>A c.*2278G>A (n.*2278G>A) n.2681G>A c.3129G>A (p.Met1043Ile) c.2061G>A (p.Met687Ile) c.3141G>A (p.Met1047Ile) c.3039G>A (p.Met1013Ile) c.2313G>A (p.Met771Ile) | |
| 12 | g.21844833A= | CA2021314602 | ABCC9 | c.3179T= (p.Met1060=) n.756T= c.*2277T= (n.*2277T=) n.2680T= c.3128T= (p.Met1043=) c.2060T= (p.Met687=) c.3140T= (p.Met1047=) c.3038T= (p.Met1013=) c.2312T= (p.Met771=) | |
| 12 | g.21844833A>C | CA384118565 | ABCC9 | c.3179T>G (p.Met1060Arg) n.756T>G c.*2277T>G (n.*2277T>G) n.2680T>G c.3128T>G (p.Met1043Arg) c.2060T>G (p.Met687Arg) c.3140T>G (p.Met1047Arg) c.3038T>G (p.Met1013Arg) c.2312T>G (p.Met771Arg) | |
| 12 | g.21844833A>G | CA384118568 | ABCC9 | c.3179T>C (p.Met1060Thr) n.756T>C c.*2277T>C (n.*2277T>C) n.2680T>C c.3128T>C (p.Met1043Thr) c.2060T>C (p.Met687Thr) c.3140T>C (p.Met1047Thr) c.3038T>C (p.Met1013Thr) c.2312T>C (p.Met771Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844833A>T | CA384118566 | ABCC9 | c.3179T>A (p.Met1060Lys) n.756T>A c.*2277T>A (n.*2277T>A) n.2680T>A c.3128T>A (p.Met1043Lys) c.2060T>A (p.Met687Lys) c.3140T>A (p.Met1047Lys) c.3038T>A (p.Met1013Lys) c.2312T>A (p.Met771Lys) | |
| 12 | g.21844834T>A | CA384118573 | ABCC9 | c.3178A>T (p.Met1060Leu) n.755A>T c.*2276A>T (n.*2276A>T) n.2679A>T c.3127A>T (p.Met1043Leu) c.2059A>T (p.Met687Leu) c.3139A>T (p.Met1047Leu) c.3037A>T (p.Met1013Leu) c.2311A>T (p.Met771Leu) | COSMIC COSMIC |
| 12 | g.21844834T>C | CA384118575 | ABCC9 | c.3178A>G (p.Met1060Val) n.755A>G c.*2276A>G (n.*2276A>G) n.2679A>G c.3127A>G (p.Met1043Val) c.2059A>G (p.Met687Val) c.3139A>G (p.Met1047Val) c.3037A>G (p.Met1013Val) c.2311A>G (p.Met771Val) | |
| 12 | g.21844834T>G | CA384118577 | ABCC9 | c.3178A>C (p.Met1060Leu) n.755A>C c.*2276A>C (n.*2276A>C) n.2679A>C c.3127A>C (p.Met1043Leu) c.2059A>C (p.Met687Leu) c.3139A>C (p.Met1047Leu) c.3037A>C (p.Met1013Leu) c.2311A>C (p.Met771Leu) | |
| 12 | g.21844835C>A | CA384118579 | ABCC9 | c.3177G>T (p.Trp1059Cys) n.754G>T c.*2275G>T (n.*2275G>T) n.2678G>T c.3126G>T (p.Trp1042Cys) c.2058G>T (p.Trp686Cys) c.3138G>T (p.Trp1046Cys) c.3036G>T (p.Trp1012Cys) c.2310G>T (p.Trp770Cys) | |
| 12 | g.21844835C= | CA2021314604 | ABCC9 | c.3177G= (p.Trp1059=) n.754G= c.*2275G= (n.*2275G=) n.2678G= c.3126G= (p.Trp1042=) c.2058G= (p.Trp686=) c.3138G= (p.Trp1046=) c.3036G= (p.Trp1012=) c.2310G= (p.Trp770=) | |
| 12 | g.21844835C>G | CA6481190 | ABCC9 | c.3177G>C (p.Trp1059Cys) n.754G>C c.*2275G>C (n.*2275G>C) n.2678G>C c.3126G>C (p.Trp1042Cys) c.2058G>C (p.Trp686Cys) c.3138G>C (p.Trp1046Cys) c.3036G>C (p.Trp1012Cys) c.2310G>C (p.Trp770Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844835C>T | CA384118584 | ABCC9 | c.3177G>A (p.Trp1059Ter) n.754G>A c.*2275G>A (n.*2275G>A) n.2678G>A c.3126G>A (p.Trp1042Ter) c.2058G>A (p.Trp686Ter) c.3138G>A (p.Trp1046Ter) c.3036G>A (p.Trp1012Ter) c.2310G>A (p.Trp770Ter) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21844836C>A | CA384118592 | ABCC9 | c.3176G>T (p.Trp1059Leu) n.753G>T c.*2274G>T (n.*2274G>T) n.2677G>T c.3125G>T (p.Trp1042Leu) c.2057G>T (p.Trp686Leu) c.3137G>T (p.Trp1046Leu) c.3035G>T (p.Trp1012Leu) c.2309G>T (p.Trp770Leu) | |
| 12 | g.21844836C= | CA2021314606 | ABCC9 | c.3176G= (p.Trp1059=) n.753G= c.*2274G= (n.*2274G=) n.2677G= c.3125G= (p.Trp1042=) c.2057G= (p.Trp686=) c.3137G= (p.Trp1046=) c.3035G= (p.Trp1012=) c.2309G= (p.Trp770=) | |
| 12 | g.21844836C>G | CA384118587 | ABCC9 | c.3176G>C (p.Trp1059Ser) n.753G>C c.*2274G>C (n.*2274G>C) n.2677G>C c.3125G>C (p.Trp1042Ser) c.2057G>C (p.Trp686Ser) c.3137G>C (p.Trp1046Ser) c.3035G>C (p.Trp1012Ser) c.2309G>C (p.Trp770Ser) | |
| 12 | g.21844836C>T | CA384118589 | ABCC9 | c.3176G>A (p.Trp1059Ter) n.753G>A c.*2274G>A (n.*2274G>A) n.2677G>A c.3125G>A (p.Trp1042Ter) c.2057G>A (p.Trp686Ter) c.3137G>A (p.Trp1046Ter) c.3035G>A (p.Trp1012Ter) c.2309G>A (p.Trp770Ter) | dbSNP |
| 12 | g.21844837A>C | CA384118595 | ABCC9 | c.3175T>G (p.Trp1059Gly) n.752T>G c.*2273T>G (n.*2273T>G) n.2676T>G c.3124T>G (p.Trp1042Gly) c.2056T>G (p.Trp686Gly) c.3136T>G (p.Trp1046Gly) c.3034T>G (p.Trp1012Gly) c.2308T>G (p.Trp770Gly) | |
| 12 | g.21844837A>G | CA384118597 | ABCC9 | c.3175T>C (p.Trp1059Arg) n.752T>C c.*2273T>C (n.*2273T>C) n.2676T>C c.3124T>C (p.Trp1042Arg) c.2056T>C (p.Trp686Arg) c.3136T>C (p.Trp1046Arg) c.3034T>C (p.Trp1012Arg) c.2308T>C (p.Trp770Arg) | ClinVar |
| 12 | g.21844837A>T | CA384118599 | ABCC9 | c.3175T>A (p.Trp1059Arg) n.752T>A c.*2273T>A (n.*2273T>A) n.2676T>A c.3124T>A (p.Trp1042Arg) c.2056T>A (p.Trp686Arg) c.3136T>A (p.Trp1046Arg) c.3034T>A (p.Trp1012Arg) c.2308T>A (p.Trp770Arg) | |
| 12 | g.21844838T>A | CA384118602 | ABCC9 | c.3174A>T (p.Glu1058Asp) n.751A>T c.*2272A>T (n.*2272A>T) n.2675A>T c.3123A>T (p.Glu1041Asp) c.2055A>T (p.Glu685Asp) c.3135A>T (p.Glu1045Asp) c.3033A>T (p.Glu1011Asp) c.2307A>T (p.Glu769Asp) | |
| 12 | g.21844838T>C | CA478870547 | ABCC9 | c.3174A>G (p.Glu1058=) n.751A>G c.*2272A>G (n.*2272A>G) n.2675A>G c.3123A>G (p.Glu1041=) c.2055A>G (p.Glu685=) c.3135A>G (p.Glu1045=) c.3033A>G (p.Glu1011=) c.2307A>G (p.Glu769=) | |
| 12 | g.21844838T>G | CA384118603 | ABCC9 | c.3174A>C (p.Glu1058Asp) n.751A>C c.*2272A>C (n.*2272A>C) n.2675A>C c.3123A>C (p.Glu1041Asp) c.2055A>C (p.Glu685Asp) c.3135A>C (p.Glu1045Asp) c.3033A>C (p.Glu1011Asp) c.2307A>C (p.Glu769Asp) | |
| 12 | g.21844839T>A | CA384118612 | ABCC9 | c.3173A>T (p.Glu1058Val) n.750A>T c.*2271A>T (n.*2271A>T) n.2674A>T c.3122A>T (p.Glu1041Val) c.2054A>T (p.Glu685Val) c.3134A>T (p.Glu1045Val) c.3032A>T (p.Glu1011Val) c.2306A>T (p.Glu769Val) | |
| 12 | g.21844839T>C | CA384118607 | ABCC9 | c.3173A>G (p.Glu1058Gly) n.750A>G c.*2271A>G (n.*2271A>G) n.2674A>G c.3122A>G (p.Glu1041Gly) c.2054A>G (p.Glu685Gly) c.3134A>G (p.Glu1045Gly) c.3032A>G (p.Glu1011Gly) c.2306A>G (p.Glu769Gly) | |
| 12 | g.21844839T>G | CA384118610 | ABCC9 | c.3173A>C (p.Glu1058Ala) n.750A>C c.*2271A>C (n.*2271A>C) n.2674A>C c.3122A>C (p.Glu1041Ala) c.2054A>C (p.Glu685Ala) c.3134A>C (p.Glu1045Ala) c.3032A>C (p.Glu1011Ala) c.2306A>C (p.Glu769Ala) | |
| 12 | g.21844839_21844848delinsG | CA2739291613 | ABCC9 | c.3164_3173delinsC (p.Leu1055_Glu1058delinsPro) n.741_750delinsC c.*2262_*2271delinsC (n.*2262_*2271delinsC) n.2665_2674delinsC c.3113_3122delinsC (p.Leu1038_Glu1041delinsPro) c.2045_2054delinsC (p.Leu682_Glu685delinsPro) c.3125_3134delinsC (p.Leu1042_Glu1045delinsPro) c.3023_3032delinsC (p.Leu1008_Glu1011delinsPro) c.2297_2306delinsC (p.Leu766_Glu769delinsPro) | |
| 12 | g.21844840C>A | CA384118616 | ABCC9 | c.3172G>T (p.Glu1058Ter) n.749G>T c.*2270G>T (n.*2270G>T) n.2673G>T c.3121G>T (p.Glu1041Ter) c.2053G>T (p.Glu685Ter) c.3133G>T (p.Glu1045Ter) c.3031G>T (p.Glu1011Ter) c.2305G>T (p.Glu769Ter) | |
| 12 | g.21844840C>G | CA384118618 | ABCC9 | c.3172G>C (p.Glu1058Gln) n.749G>C c.*2270G>C (n.*2270G>C) n.2673G>C c.3121G>C (p.Glu1041Gln) c.2053G>C (p.Glu685Gln) c.3133G>C (p.Glu1045Gln) c.3031G>C (p.Glu1011Gln) c.2305G>C (p.Glu769Gln) | |
| 12 | g.21844840C>T | CA384118620 | ABCC9 | c.3172G>A (p.Glu1058Lys) n.749G>A c.*2270G>A (n.*2270G>A) n.2673G>A c.3121G>A (p.Glu1041Lys) c.2053G>A (p.Glu685Lys) c.3133G>A (p.Glu1045Lys) c.3031G>A (p.Glu1011Lys) c.2305G>A (p.Glu769Lys) | |
| 12 | g.21844841T>A | CA478870553 | ABCC9 | c.3171A>T (p.Val1057=) n.748A>T c.*2269A>T (n.*2269A>T) n.2672A>T c.3120A>T (p.Val1040=) c.2052A>T (p.Val684=) c.3132A>T (p.Val1044=) c.3030A>T (p.Val1010=) c.2304A>T (p.Val768=) | |
| 12 | g.21844841T>C | CA478870555 | ABCC9 | c.3171A>G (p.Val1057=) n.748A>G c.*2269A>G (n.*2269A>G) n.2672A>G c.3120A>G (p.Val1040=) c.2052A>G (p.Val684=) c.3132A>G (p.Val1044=) c.3030A>G (p.Val1010=) c.2304A>G (p.Val768=) | |
| 12 | g.21844841T>G | CA478870554 | ABCC9 | c.3171A>C (p.Val1057=) n.748A>C c.*2269A>C (n.*2269A>C) n.2672A>C c.3120A>C (p.Val1040=) c.2052A>C (p.Val684=) c.3132A>C (p.Val1044=) c.3030A>C (p.Val1010=) c.2304A>C (p.Val768=) | |
| 12 | g.21844842A>C | CA384118623 | ABCC9 | c.3170T>G (p.Val1057Gly) n.747T>G c.*2268T>G (n.*2268T>G) n.2671T>G c.3119T>G (p.Val1040Gly) c.2051T>G (p.Val684Gly) c.3131T>G (p.Val1044Gly) c.3029T>G (p.Val1010Gly) c.2303T>G (p.Val768Gly) | |
| 12 | g.21844842A>G | CA384118624 | ABCC9 | c.3170T>C (p.Val1057Ala) n.747T>C c.*2268T>C (n.*2268T>C) n.2671T>C c.3119T>C (p.Val1040Ala) c.2051T>C (p.Val684Ala) c.3131T>C (p.Val1044Ala) c.3029T>C (p.Val1010Ala) c.2303T>C (p.Val768Ala) | gnomAD v4 |
| 12 | g.21844842A>T | CA384118627 | ABCC9 | c.3170T>A (p.Val1057Glu) n.747T>A c.*2268T>A (n.*2268T>A) n.2671T>A c.3119T>A (p.Val1040Glu) c.2051T>A (p.Val684Glu) c.3131T>A (p.Val1044Glu) c.3029T>A (p.Val1010Glu) c.2303T>A (p.Val768Glu) | |
| 12 | g.21844843C>A | CA384118629 | ABCC9 | c.3169G>T (p.Val1057Leu) n.746G>T c.*2267G>T (n.*2267G>T) n.2670G>T c.3118G>T (p.Val1040Leu) c.2050G>T (p.Val684Leu) c.3130G>T (p.Val1044Leu) c.3028G>T (p.Val1010Leu) c.2302G>T (p.Val768Leu) | |
| 12 | g.21844843C>G | CA384118632 | ABCC9 | c.3169G>C (p.Val1057Leu) n.746G>C c.*2267G>C (n.*2267G>C) n.2670G>C c.3118G>C (p.Val1040Leu) c.2050G>C (p.Val684Leu) c.3130G>C (p.Val1044Leu) c.3028G>C (p.Val1010Leu) c.2302G>C (p.Val768Leu) | |
| 12 | g.21844843C>T | CA384118634 | ABCC9 | c.3169G>A (p.Val1057Ile) n.746G>A c.*2267G>A (n.*2267G>A) n.2670G>A c.3118G>A (p.Val1040Ile) c.2050G>A (p.Val684Ile) c.3130G>A (p.Val1044Ile) c.3028G>A (p.Val1010Ile) c.2302G>A (p.Val768Ile) | ClinVar gnomAD v4 |
| 12 | g.21844844A>C | CA478870563 | ABCC9 | c.3168T>G (p.Thr1056=) n.745T>G c.*2266T>G (n.*2266T>G) n.2669T>G c.3117T>G (p.Thr1039=) c.2049T>G (p.Thr683=) c.3129T>G (p.Thr1043=) c.3027T>G (p.Thr1009=) c.2301T>G (p.Thr767=) | gnomAD v4 |
| 12 | g.21844844A>G | CA478870565 | ABCC9 | c.3168T>C (p.Thr1056=) n.745T>C c.*2266T>C (n.*2266T>C) n.2669T>C c.3117T>C (p.Thr1039=) c.2049T>C (p.Thr683=) c.3129T>C (p.Thr1043=) c.3027T>C (p.Thr1009=) c.2301T>C (p.Thr767=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.21844844A>T | CA478870567 | ABCC9 | c.3168T>A (p.Thr1056=) n.745T>A c.*2266T>A (n.*2266T>A) n.2669T>A c.3117T>A (p.Thr1039=) c.2049T>A (p.Thr683=) c.3129T>A (p.Thr1043=) c.3027T>A (p.Thr1009=) c.2301T>A (p.Thr767=) | |
| 12 | g.21844845G>A | CA384118636 | ABCC9 | c.3167C>T (p.Thr1056Ile) n.744C>T c.*2265C>T (n.*2265C>T) n.2668C>T c.3116C>T (p.Thr1039Ile) c.2048C>T (p.Thr683Ile) c.3128C>T (p.Thr1043Ile) c.3026C>T (p.Thr1009Ile) c.2300C>T (p.Thr767Ile) | |
| 12 | g.21844845G>C | CA384118638 | ABCC9 | c.3167C>G (p.Thr1056Ser) n.744C>G c.*2265C>G (n.*2265C>G) n.2668C>G c.3116C>G (p.Thr1039Ser) c.2048C>G (p.Thr683Ser) c.3128C>G (p.Thr1043Ser) c.3026C>G (p.Thr1009Ser) c.2300C>G (p.Thr767Ser) | |
| 12 | g.21844845G>T | CA384118639 | ABCC9 | c.3167C>A (p.Thr1056Asn) n.744C>A c.*2265C>A (n.*2265C>A) n.2668C>A c.3116C>A (p.Thr1039Asn) c.2048C>A (p.Thr683Asn) c.3128C>A (p.Thr1043Asn) c.3026C>A (p.Thr1009Asn) c.2300C>A (p.Thr767Asn) | |
| 12 | g.21844846T>A | CA384118647 | ABCC9 | c.3166A>T (p.Thr1056Ser) n.743A>T c.*2264A>T (n.*2264A>T) n.2667A>T c.3115A>T (p.Thr1039Ser) c.2047A>T (p.Thr683Ser) c.3127A>T (p.Thr1043Ser) c.3025A>T (p.Thr1009Ser) c.2299A>T (p.Thr767Ser) | |
| 12 | g.21844846T>C | CA384118642 | ABCC9 | c.3166A>G (p.Thr1056Ala) n.743A>G c.*2264A>G (n.*2264A>G) n.2667A>G c.3115A>G (p.Thr1039Ala) c.2047A>G (p.Thr683Ala) c.3127A>G (p.Thr1043Ala) c.3025A>G (p.Thr1009Ala) c.2299A>G (p.Thr767Ala) | |
| 12 | g.21844846T>G | CA384118645 | ABCC9 | c.3166A>C (p.Thr1056Pro) n.743A>C c.*2264A>C (n.*2264A>C) n.2667A>C c.3115A>C (p.Thr1039Pro) c.2047A>C (p.Thr683Pro) c.3127A>C (p.Thr1043Pro) c.3025A>C (p.Thr1009Pro) c.2299A>C (p.Thr767Pro) | |
| 12 | g.21844847G>A | CA478870573 | ABCC9 | c.3165C>T (p.Leu1055=) n.742C>T c.*2263C>T (n.*2263C>T) n.2666C>T c.3114C>T (p.Leu1038=) c.2046C>T (p.Leu682=) c.3126C>T (p.Leu1042=) c.3024C>T (p.Leu1008=) c.2298C>T (p.Leu766=) | COSMIC COSMIC |
| 12 | g.21844847G>C | CA478870574 | ABCC9 | c.3165C>G (p.Leu1055=) n.742C>G c.*2263C>G (n.*2263C>G) n.2666C>G c.3114C>G (p.Leu1038=) c.2046C>G (p.Leu682=) c.3126C>G (p.Leu1042=) c.3024C>G (p.Leu1008=) c.2298C>G (p.Leu766=) | |
| 12 | g.21844847G>T | CA478870576 | ABCC9 | c.3165C>A (p.Leu1055=) n.742C>A c.*2263C>A (n.*2263C>A) n.2666C>A c.3114C>A (p.Leu1038=) c.2046C>A (p.Leu682=) c.3126C>A (p.Leu1042=) c.3024C>A (p.Leu1008=) c.2298C>A (p.Leu766=) | |
| 12 | g.21844848A>C | CA384118650 | ABCC9 | c.3164T>G (p.Leu1055Arg) n.741T>G c.*2262T>G (n.*2262T>G) n.2665T>G c.3113T>G (p.Leu1038Arg) c.2045T>G (p.Leu682Arg) c.3125T>G (p.Leu1042Arg) c.3023T>G (p.Leu1008Arg) c.2297T>G (p.Leu766Arg) | |
| 12 | g.21844848A>G | CA384118652 | ABCC9 | c.3164T>C (p.Leu1055Pro) n.741T>C c.*2262T>C (n.*2262T>C) n.2665T>C c.3113T>C (p.Leu1038Pro) c.2045T>C (p.Leu682Pro) c.3125T>C (p.Leu1042Pro) c.3023T>C (p.Leu1008Pro) c.2297T>C (p.Leu766Pro) | |
| 12 | g.21844848A>T | CA384118655 | ABCC9 | c.3164T>A (p.Leu1055His) n.741T>A c.*2262T>A (n.*2262T>A) n.2665T>A c.3113T>A (p.Leu1038His) c.2045T>A (p.Leu682His) c.3125T>A (p.Leu1042His) c.3023T>A (p.Leu1008His) c.2297T>A (p.Leu766His) | |
| 12 | g.21844849G>A | CA384118658 | ABCC9 | c.3163C>T (p.Leu1055Phe) n.740C>T c.*2261C>T (n.*2261C>T) n.2664C>T c.3112C>T (p.Leu1038Phe) c.2044C>T (p.Leu682Phe) c.3124C>T (p.Leu1042Phe) c.3022C>T (p.Leu1008Phe) c.2296C>T (p.Leu766Phe) | |
| 12 | g.21844849G>C | CA384118660 | ABCC9 | c.3163C>G (p.Leu1055Val) n.740C>G c.*2261C>G (n.*2261C>G) n.2664C>G c.3112C>G (p.Leu1038Val) c.2044C>G (p.Leu682Val) c.3124C>G (p.Leu1042Val) c.3022C>G (p.Leu1008Val) c.2296C>G (p.Leu766Val) | |
| 12 | g.21844849G>T | CA384118665 | ABCC9 | c.3163C>A (p.Leu1055Ile) n.740C>A c.*2261C>A (n.*2261C>A) n.2664C>A c.3112C>A (p.Leu1038Ile) c.2044C>A (p.Leu682Ile) c.3124C>A (p.Leu1042Ile) c.3022C>A (p.Leu1008Ile) c.2296C>A (p.Leu766Ile) | |
| 12 | g.21844850G>A | CA478870580 | ABCC9 | c.3162C>T (p.Ser1054=) n.739C>T c.*2260C>T (n.*2260C>T) n.2663C>T c.3111C>T (p.Ser1037=) c.2043C>T (p.Ser681=) c.3123C>T (p.Ser1041=) c.3021C>T (p.Ser1007=) c.2295C>T (p.Ser765=) | |
| 12 | g.21844850G>C | CA478870581 | ABCC9 | c.3162C>G (p.Ser1054=) n.739C>G c.*2260C>G (n.*2260C>G) n.2663C>G c.3111C>G (p.Ser1037=) c.2043C>G (p.Ser681=) c.3123C>G (p.Ser1041=) c.3021C>G (p.Ser1007=) c.2295C>G (p.Ser765=) | |
| 12 | g.21844850G>T | CA478870582 | ABCC9 | c.3162C>A (p.Ser1054=) n.739C>A c.*2260C>A (n.*2260C>A) n.2663C>A c.3111C>A (p.Ser1037=) c.2043C>A (p.Ser681=) c.3123C>A (p.Ser1041=) c.3021C>A (p.Ser1007=) c.2295C>A (p.Ser765=) | |
| 12 | g.21844851G>A | CA233594536 | ABCC9 | c.3161C>T (p.Ser1054Phe) n.738C>T c.*2259C>T (n.*2259C>T) n.2662C>T c.3110C>T (p.Ser1037Phe) c.2042C>T (p.Ser681Phe) c.3122C>T (p.Ser1041Phe) c.3020C>T (p.Ser1007Phe) c.2294C>T (p.Ser765Phe) | dbSNP COSMIC COSMIC |
| 12 | g.21844851G>C | CA384118672 | ABCC9 | c.3161C>G (p.Ser1054Cys) n.738C>G c.*2259C>G (n.*2259C>G) n.2662C>G c.3110C>G (p.Ser1037Cys) c.2042C>G (p.Ser681Cys) c.3122C>G (p.Ser1041Cys) c.3020C>G (p.Ser1007Cys) c.2294C>G (p.Ser765Cys) | |
| 12 | g.21844851G= | CA2021314608 | ABCC9 | c.3161C= (p.Ser1054=) n.738C= c.*2259C= (n.*2259C=) n.2662C= c.3110C= (p.Ser1037=) c.2042C= (p.Ser681=) c.3122C= (p.Ser1041=) c.3020C= (p.Ser1007=) c.2294C= (p.Ser765=) | |
| 12 | g.21844851G>T | CA384118676 | ABCC9 | c.3161C>A (p.Ser1054Tyr) n.738C>A c.*2259C>A (n.*2259C>A) n.2662C>A c.3110C>A (p.Ser1037Tyr) c.2042C>A (p.Ser681Tyr) c.3122C>A (p.Ser1041Tyr) c.3020C>A (p.Ser1007Tyr) c.2294C>A (p.Ser765Tyr) | |
| 12 | g.21844852A>C | CA384118684 | ABCC9 | c.3160T>G (p.Ser1054Ala) n.737T>G c.*2258T>G (n.*2258T>G) n.2661T>G c.3109T>G (p.Ser1037Ala) c.2041T>G (p.Ser681Ala) c.3121T>G (p.Ser1041Ala) c.3019T>G (p.Ser1007Ala) c.2293T>G (p.Ser765Ala) | |
| 12 | g.21844852A>G | CA384118686 | ABCC9 | c.3160T>C (p.Ser1054Pro) n.737T>C c.*2258T>C (n.*2258T>C) n.2661T>C c.3109T>C (p.Ser1037Pro) c.2041T>C (p.Ser681Pro) c.3121T>C (p.Ser1041Pro) c.3019T>C (p.Ser1007Pro) c.2293T>C (p.Ser765Pro) | |
| 12 | g.21844852A>T | CA384118688 | ABCC9 | c.3160T>A (p.Ser1054Thr) n.737T>A c.*2258T>A (n.*2258T>A) n.2661T>A c.3109T>A (p.Ser1037Thr) c.2041T>A (p.Ser681Thr) c.3121T>A (p.Ser1041Thr) c.3019T>A (p.Ser1007Thr) c.2293T>A (p.Ser765Thr) | |
| 12 | g.21844853T>A | CA478870587 | ABCC9 | c.3159A>T (p.Thr1053=) n.736A>T c.*2257A>T (n.*2257A>T) n.2660A>T c.3108A>T (p.Thr1036=) c.2040A>T (p.Thr680=) c.3120A>T (p.Thr1040=) c.3018A>T (p.Thr1006=) c.2292A>T (p.Thr764=) | |
| 12 | g.21844853T>C | CA6481191 | ABCC9 | c.3159A>G (p.Thr1053=) n.736A>G c.*2257A>G (n.*2257A>G) n.2660A>G c.3108A>G (p.Thr1036=) c.2040A>G (p.Thr680=) c.3120A>G (p.Thr1040=) c.3018A>G (p.Thr1006=) c.2292A>G (p.Thr764=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844853T>G | CA478870589 | ABCC9 | c.3159A>C (p.Thr1053=) n.736A>C c.*2257A>C (n.*2257A>C) n.2660A>C c.3108A>C (p.Thr1036=) c.2040A>C (p.Thr680=) c.3120A>C (p.Thr1040=) c.3018A>C (p.Thr1006=) c.2292A>C (p.Thr764=) | |
| 12 | g.21844853T= | CA2021314611 | ABCC9 | c.3159A= (p.Thr1053=) n.736A= c.*2257A= (n.*2257A=) n.2660A= c.3108A= (p.Thr1036=) c.2040A= (p.Thr680=) c.3120A= (p.Thr1040=) c.3018A= (p.Thr1006=) c.2292A= (p.Thr764=) | |
| 12 | g.21844854G>A | CA384118702 | ABCC9 | c.3158C>T (p.Thr1053Ile) n.735C>T c.*2256C>T (n.*2256C>T) n.2659C>T c.3107C>T (p.Thr1036Ile) c.2039C>T (p.Thr680Ile) c.3119C>T (p.Thr1040Ile) c.3017C>T (p.Thr1006Ile) c.2291C>T (p.Thr764Ile) | |
| 12 | g.21844854G>C | CA384118699 | ABCC9 | c.3158C>G (p.Thr1053Arg) n.735C>G c.*2256C>G (n.*2256C>G) n.2659C>G c.3107C>G (p.Thr1036Arg) c.2039C>G (p.Thr680Arg) c.3119C>G (p.Thr1040Arg) c.3017C>G (p.Thr1006Arg) c.2291C>G (p.Thr764Arg) | |
| 12 | g.21844854G= | CA2021314615 | ABCC9 | c.3158C= (p.Thr1053=) n.735C= c.*2256C= (n.*2256C=) n.2659C= c.3107C= (p.Thr1036=) c.2039C= (p.Thr680=) c.3119C= (p.Thr1040=) c.3017C= (p.Thr1006=) c.2291C= (p.Thr764=) | |
| 12 | g.21844854G>T | CA384118701 | ABCC9 | c.3158C>A (p.Thr1053Lys) n.735C>A c.*2256C>A (n.*2256C>A) n.2659C>A c.3107C>A (p.Thr1036Lys) c.2039C>A (p.Thr680Lys) c.3119C>A (p.Thr1040Lys) c.3017C>A (p.Thr1006Lys) c.2291C>A (p.Thr764Lys) | dbSNP |
| 12 | g.21844855T>A | CA384118706 | ABCC9 | c.3157A>T (p.Thr1053Ser) n.734A>T c.*2255A>T (n.*2255A>T) n.2658A>T c.3106A>T (p.Thr1036Ser) c.2038A>T (p.Thr680Ser) c.3118A>T (p.Thr1040Ser) c.3016A>T (p.Thr1006Ser) c.2290A>T (p.Thr764Ser) | |
| 12 | g.21844855T>C | CA384118708 | ABCC9 | c.3157A>G (p.Thr1053Ala) n.734A>G c.*2255A>G (n.*2255A>G) n.2658A>G c.3106A>G (p.Thr1036Ala) c.2038A>G (p.Thr680Ala) c.3118A>G (p.Thr1040Ala) c.3016A>G (p.Thr1006Ala) c.2290A>G (p.Thr764Ala) | |
| 12 | g.21844855T>G | CA384118709 | ABCC9 | c.3157A>C (p.Thr1053Pro) n.734A>C c.*2255A>C (n.*2255A>C) n.2658A>C c.3106A>C (p.Thr1036Pro) c.2038A>C (p.Thr680Pro) c.3118A>C (p.Thr1040Pro) c.3016A>C (p.Thr1006Pro) c.2290A>C (p.Thr764Pro) | ClinVar |
| 12 | g.21844856A>C | CA478870594 | ABCC9 | c.3156T>G (p.Val1052=) n.733T>G c.*2254T>G (n.*2254T>G) n.2657T>G c.3105T>G (p.Val1035=) c.2037T>G (p.Val679=) c.3117T>G (p.Val1039=) c.3015T>G (p.Val1005=) c.2289T>G (p.Val763=) | |
| 12 | g.21844856A>G | CA478870597 | ABCC9 | c.3156T>C (p.Val1052=) n.733T>C c.*2254T>C (n.*2254T>C) n.2657T>C c.3105T>C (p.Val1035=) c.2037T>C (p.Val679=) c.3117T>C (p.Val1039=) c.3015T>C (p.Val1005=) c.2289T>C (p.Val763=) | |
| 12 | g.21844856A>T | CA478870595 | ABCC9 | c.3156T>A (p.Val1052=) n.733T>A c.*2254T>A (n.*2254T>A) n.2657T>A c.3105T>A (p.Val1035=) c.2037T>A (p.Val679=) c.3117T>A (p.Val1039=) c.3015T>A (p.Val1005=) c.2289T>A (p.Val763=) | |
| 12 | g.21844857A>C | CA384118712 | ABCC9 | c.3155T>G (p.Val1052Gly) n.732T>G c.*2253T>G (n.*2253T>G) n.2656T>G c.3104T>G (p.Val1035Gly) c.2036T>G (p.Val679Gly) c.3116T>G (p.Val1039Gly) c.3014T>G (p.Val1005Gly) c.2288T>G (p.Val763Gly) | |
| 12 | g.21844857A>G | CA384118715 | ABCC9 | c.3155T>C (p.Val1052Ala) n.732T>C c.*2253T>C (n.*2253T>C) n.2656T>C c.3104T>C (p.Val1035Ala) c.2036T>C (p.Val679Ala) c.3116T>C (p.Val1039Ala) c.3014T>C (p.Val1005Ala) c.2288T>C (p.Val763Ala) | |
| 12 | g.21844857A>T | CA384118717 | ABCC9 | c.3155T>A (p.Val1052Asp) n.732T>A c.*2253T>A (n.*2253T>A) n.2656T>A c.3104T>A (p.Val1035Asp) c.2036T>A (p.Val679Asp) c.3116T>A (p.Val1039Asp) c.3014T>A (p.Val1005Asp) c.2288T>A (p.Val763Asp) | |
| 12 | g.21844858C>A | CA384118722 | ABCC9 | c.3154G>T (p.Val1052Phe) n.731G>T c.*2252G>T (n.*2252G>T) n.2655G>T c.3103G>T (p.Val1035Phe) c.2035G>T (p.Val679Phe) c.3115G>T (p.Val1039Phe) c.3013G>T (p.Val1005Phe) c.2287G>T (p.Val763Phe) | |
| 12 | g.21844858C>G | CA384118728 | ABCC9 | c.3154G>C (p.Val1052Leu) n.731G>C c.*2252G>C (n.*2252G>C) n.2655G>C c.3103G>C (p.Val1035Leu) c.2035G>C (p.Val679Leu) c.3115G>C (p.Val1039Leu) c.3013G>C (p.Val1005Leu) c.2287G>C (p.Val763Leu) | |
| 12 | g.21844858C>T | CA384118732 | ABCC9 | c.3154G>A (p.Val1052Ile) n.731G>A c.*2252G>A (n.*2252G>A) n.2655G>A c.3103G>A (p.Val1035Ile) c.2035G>A (p.Val679Ile) c.3115G>A (p.Val1039Ile) c.3013G>A (p.Val1005Ile) c.2287G>A (p.Val763Ile) | |
| 12 | g.21844859A>C | CA478870602 | ABCC9 | c.3153T>G (p.Leu1051=) n.730T>G c.*2251T>G (n.*2251T>G) n.2654T>G c.3102T>G (p.Leu1034=) c.2034T>G (p.Leu678=) c.3114T>G (p.Leu1038=) c.3012T>G (p.Leu1004=) c.2286T>G (p.Leu762=) | |
| 12 | g.21844859A>G | CA478870603 | ABCC9 | c.3153T>C (p.Leu1051=) n.730T>C c.*2251T>C (n.*2251T>C) n.2654T>C c.3102T>C (p.Leu1034=) c.2034T>C (p.Leu678=) c.3114T>C (p.Leu1038=) c.3012T>C (p.Leu1004=) c.2286T>C (p.Leu762=) | ClinVar gnomAD v4 |
| 12 | g.21844859A>T | CA478870604 | ABCC9 | c.3153T>A (p.Leu1051=) n.730T>A c.*2251T>A (n.*2251T>A) n.2654T>A c.3102T>A (p.Leu1034=) c.2034T>A (p.Leu678=) c.3114T>A (p.Leu1038=) c.3012T>A (p.Leu1004=) c.2286T>A (p.Leu762=) | |
| 12 | g.21844860A>C | CA384118734 | ABCC9 | c.3152T>G (p.Leu1051Arg) n.729T>G c.*2250T>G (n.*2250T>G) n.2653T>G c.3101T>G (p.Leu1034Arg) c.2033T>G (p.Leu678Arg) c.3113T>G (p.Leu1038Arg) c.3011T>G (p.Leu1004Arg) c.2285T>G (p.Leu762Arg) | |
| 12 | g.21844860A>G | CA384118735 | ABCC9 | c.3152T>C (p.Leu1051Pro) n.729T>C c.*2250T>C (n.*2250T>C) n.2653T>C c.3101T>C (p.Leu1034Pro) c.2033T>C (p.Leu678Pro) c.3113T>C (p.Leu1038Pro) c.3011T>C (p.Leu1004Pro) c.2285T>C (p.Leu762Pro) | |
| 12 | g.21844860A>T | CA384118739 | ABCC9 | c.3152T>A (p.Leu1051His) n.729T>A c.*2250T>A (n.*2250T>A) n.2653T>A c.3101T>A (p.Leu1034His) c.2033T>A (p.Leu678His) c.3113T>A (p.Leu1038His) c.3011T>A (p.Leu1004His) c.2285T>A (p.Leu762His) | |
| 12 | g.21844861G>A | CA384118742 | ABCC9 | c.3151C>T (p.Leu1051Phe) n.728C>T c.*2249C>T (n.*2249C>T) n.2652C>T c.3100C>T (p.Leu1034Phe) c.2032C>T (p.Leu678Phe) c.3112C>T (p.Leu1038Phe) c.3010C>T (p.Leu1004Phe) c.2284C>T (p.Leu762Phe) | gnomAD v4 |
| 12 | g.21844861G>C | CA384118748 | ABCC9 | c.3151C>G (p.Leu1051Val) n.728C>G c.*2249C>G (n.*2249C>G) n.2652C>G c.3100C>G (p.Leu1034Val) c.2032C>G (p.Leu678Val) c.3112C>G (p.Leu1038Val) c.3010C>G (p.Leu1004Val) c.2284C>G (p.Leu762Val) | |
| 12 | g.21844861G>T | CA384118745 | ABCC9 | c.3151C>A (p.Leu1051Ile) n.728C>A c.*2249C>A (n.*2249C>A) n.2652C>A c.3100C>A (p.Leu1034Ile) c.2032C>A (p.Leu678Ile) c.3112C>A (p.Leu1038Ile) c.3010C>A (p.Leu1004Ile) c.2284C>A (p.Leu762Ile) | |
| 12 | g.21844862G>A | CA478870612 | ABCC9 | c.3150C>T (p.Cys1050=) n.727C>T c.*2248C>T (n.*2248C>T) n.2651C>T c.3099C>T (p.Cys1033=) c.2031C>T (p.Cys677=) c.3111C>T (p.Cys1037=) c.3009C>T (p.Cys1003=) c.2283C>T (p.Cys761=) | |
| 12 | g.21844862G>C | CA384118749 | ABCC9 | c.3150C>G (p.Cys1050Trp) n.727C>G c.*2248C>G (n.*2248C>G) n.2651C>G c.3099C>G (p.Cys1033Trp) c.2031C>G (p.Cys677Trp) c.3111C>G (p.Cys1037Trp) c.3009C>G (p.Cys1003Trp) c.2283C>G (p.Cys761Trp) | |
| 12 | g.21844862G= | CA2021314618 | ABCC9 | c.3150C= (p.Cys1050=) n.727C= c.*2248C= (n.*2248C=) n.2651C= c.3099C= (p.Cys1033=) c.2031C= (p.Cys677=) c.3111C= (p.Cys1037=) c.3009C= (p.Cys1003=) c.2283C= (p.Cys761=) | |
| 12 | g.21844862G>T | CA384118752 | ABCC9 | c.3150C>A (p.Cys1050Ter) n.727C>A c.*2248C>A (n.*2248C>A) n.2651C>A c.3099C>A (p.Cys1033Ter) c.2031C>A (p.Cys677Ter) c.3111C>A (p.Cys1037Ter) c.3009C>A (p.Cys1003Ter) c.2283C>A (p.Cys761Ter) | dbSNP |
| 12 | g.21844863C>A | CA384118756 | ABCC9 | c.3149G>T (p.Cys1050Phe) n.726G>T c.*2247G>T (n.*2247G>T) n.2650G>T c.3098G>T (p.Cys1033Phe) c.2030G>T (p.Cys677Phe) c.3110G>T (p.Cys1037Phe) c.3008G>T (p.Cys1003Phe) c.2282G>T (p.Cys761Phe) | |
| 12 | g.21844863C= | CA2021314622 | ABCC9 | c.3149G= (p.Cys1050=) n.726G= c.*2247G= (n.*2247G=) n.2650G= c.3098G= (p.Cys1033=) c.2030G= (p.Cys677=) c.3110G= (p.Cys1037=) c.3008G= (p.Cys1003=) c.2282G= (p.Cys761=) | |
| 12 | g.21844863C>G | CA384118758 | ABCC9 | c.3149G>C (p.Cys1050Ser) n.726G>C c.*2247G>C (n.*2247G>C) n.2650G>C c.3098G>C (p.Cys1033Ser) c.2030G>C (p.Cys677Ser) c.3110G>C (p.Cys1037Ser) c.3008G>C (p.Cys1003Ser) c.2282G>C (p.Cys761Ser) | |
| 12 | g.21844863C>T | CA384118760 | ABCC9 | c.3149G>A (p.Cys1050Tyr) n.726G>A c.*2247G>A (n.*2247G>A) n.2650G>A c.3098G>A (p.Cys1033Tyr) c.2030G>A (p.Cys677Tyr) c.3110G>A (p.Cys1037Tyr) c.3008G>A (p.Cys1003Tyr) c.2282G>A (p.Cys761Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844864A>C | CA384118763 | ABCC9 | c.3148T>G (p.Cys1050Gly) n.725T>G c.*2246T>G (n.*2246T>G) n.2649T>G c.3097T>G (p.Cys1033Gly) c.2029T>G (p.Cys677Gly) c.3109T>G (p.Cys1037Gly) c.3007T>G (p.Cys1003Gly) c.2281T>G (p.Cys761Gly) | |
| 12 | g.21844864A>G | CA384118766 | ABCC9 | c.3148T>C (p.Cys1050Arg) n.725T>C c.*2246T>C (n.*2246T>C) n.2649T>C c.3097T>C (p.Cys1033Arg) c.2029T>C (p.Cys677Arg) c.3109T>C (p.Cys1037Arg) c.3007T>C (p.Cys1003Arg) c.2281T>C (p.Cys761Arg) | |
| 12 | g.21844864A>T | CA384118769 | ABCC9 | c.3148T>A (p.Cys1050Ser) n.725T>A c.*2246T>A (n.*2246T>A) n.2649T>A c.3097T>A (p.Cys1033Ser) c.2029T>A (p.Cys677Ser) c.3109T>A (p.Cys1037Ser) c.3007T>A (p.Cys1003Ser) c.2281T>A (p.Cys761Ser) | |
| 12 | g.21844865A= | CA2021314626 | ABCC9 | c.3147T= (p.Leu1049=) n.724T= c.*2245T= (n.*2245T=) n.2648T= c.3096T= (p.Leu1032=) c.2028T= (p.Leu676=) c.3108T= (p.Leu1036=) c.3006T= (p.Leu1002=) c.2280T= (p.Leu760=) | |
| 12 | g.21844865A>C | CA478870619 | ABCC9 | c.3147T>G (p.Leu1049=) n.724T>G c.*2245T>G (n.*2245T>G) n.2648T>G c.3096T>G (p.Leu1032=) c.2028T>G (p.Leu676=) c.3108T>G (p.Leu1036=) c.3006T>G (p.Leu1002=) c.2280T>G (p.Leu760=) | gnomAD v4 |
| 12 | g.21844865A>G | CA6481192 | ABCC9 | c.3147T>C (p.Leu1049=) n.724T>C c.*2245T>C (n.*2245T>C) n.2648T>C c.3096T>C (p.Leu1032=) c.2028T>C (p.Leu676=) c.3108T>C (p.Leu1036=) c.3006T>C (p.Leu1002=) c.2280T>C (p.Leu760=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844865A>T | CA478870621 | ABCC9 | c.3147T>A (p.Leu1049=) n.724T>A c.*2245T>A (n.*2245T>A) n.2648T>A c.3096T>A (p.Leu1032=) c.2028T>A (p.Leu676=) c.3108T>A (p.Leu1036=) c.3006T>A (p.Leu1002=) c.2280T>A (p.Leu760=) | |
| 12 | g.21844866A>C | CA384118773 | ABCC9 | c.3146T>G (p.Leu1049Arg) n.723T>G c.*2244T>G (n.*2244T>G) n.2647T>G c.3095T>G (p.Leu1032Arg) c.2027T>G (p.Leu676Arg) c.3107T>G (p.Leu1036Arg) c.3005T>G (p.Leu1002Arg) c.2279T>G (p.Leu760Arg) | |
| 12 | g.21844866A>G | CA384118776 | ABCC9 | c.3146T>C (p.Leu1049Pro) n.723T>C c.*2244T>C (n.*2244T>C) n.2647T>C c.3095T>C (p.Leu1032Pro) c.2027T>C (p.Leu676Pro) c.3107T>C (p.Leu1036Pro) c.3005T>C (p.Leu1002Pro) c.2279T>C (p.Leu760Pro) | |
| 12 | g.21844866A>T | CA384118778 | ABCC9 | c.3146T>A (p.Leu1049His) n.723T>A c.*2244T>A (n.*2244T>A) n.2647T>A c.3095T>A (p.Leu1032His) c.2027T>A (p.Leu676His) c.3107T>A (p.Leu1036His) c.3005T>A (p.Leu1002His) c.2279T>A (p.Leu760His) | |
| 12 | g.21844867G>A | CA384118786 | ABCC9 | c.3145C>T (p.Leu1049Phe) n.722C>T c.*2243C>T (n.*2243C>T) n.2646C>T c.3094C>T (p.Leu1032Phe) c.2026C>T (p.Leu676Phe) c.3106C>T (p.Leu1036Phe) c.3004C>T (p.Leu1002Phe) c.2278C>T (p.Leu760Phe) | |
| 12 | g.21844867G>C | CA384118782 | ABCC9 | c.3145C>G (p.Leu1049Val) n.722C>G c.*2243C>G (n.*2243C>G) n.2646C>G c.3094C>G (p.Leu1032Val) c.2026C>G (p.Leu676Val) c.3106C>G (p.Leu1036Val) c.3004C>G (p.Leu1002Val) c.2278C>G (p.Leu760Val) | |
| 12 | g.21844867G>T | CA384118780 | ABCC9 | c.3145C>A (p.Leu1049Ile) n.722C>A c.*2243C>A (n.*2243C>A) n.2646C>A c.3094C>A (p.Leu1032Ile) c.2026C>A (p.Leu676Ile) c.3106C>A (p.Leu1036Ile) c.3004C>A (p.Leu1002Ile) c.2278C>A (p.Leu760Ile) | COSMIC COSMIC |
| 12 | g.21844868G>A | CA478870626 | ABCC9 | c.3144C>T (p.Phe1048=) n.721C>T c.*2242C>T (n.*2242C>T) n.2645C>T c.3093C>T (p.Phe1031=) c.2025C>T (p.Phe675=) c.3105C>T (p.Phe1035=) c.3003C>T (p.Phe1001=) c.2277C>T (p.Phe759=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21844868G>C | CA384118791 | ABCC9 | c.3144C>G (p.Phe1048Leu) n.721C>G c.*2242C>G (n.*2242C>G) n.2645C>G c.3093C>G (p.Phe1031Leu) c.2025C>G (p.Phe675Leu) c.3105C>G (p.Phe1035Leu) c.3003C>G (p.Phe1001Leu) c.2277C>G (p.Phe759Leu) | |
| 12 | g.21844868G>T | CA384118801 | ABCC9 | c.3144C>A (p.Phe1048Leu) n.721C>A c.*2242C>A (n.*2242C>A) n.2645C>A c.3093C>A (p.Phe1031Leu) c.2025C>A (p.Phe675Leu) c.3105C>A (p.Phe1035Leu) c.3003C>A (p.Phe1001Leu) c.2277C>A (p.Phe759Leu) | |
| 12 | g.21844869A>C | CA384118806 | ABCC9 | c.3143T>G (p.Phe1048Cys) n.720T>G c.*2241T>G (n.*2241T>G) n.2644T>G c.3092T>G (p.Phe1031Cys) c.2024T>G (p.Phe675Cys) c.3104T>G (p.Phe1035Cys) c.3002T>G (p.Phe1001Cys) c.2276T>G (p.Phe759Cys) | |
| 12 | g.21844869A>G | CA384118814 | ABCC9 | c.3143T>C (p.Phe1048Ser) n.720T>C c.*2241T>C (n.*2241T>C) n.2644T>C c.3092T>C (p.Phe1031Ser) c.2024T>C (p.Phe675Ser) c.3104T>C (p.Phe1035Ser) c.3002T>C (p.Phe1001Ser) c.2276T>C (p.Phe759Ser) | |
| 12 | g.21844869A>T | CA384118817 | ABCC9 | c.3143T>A (p.Phe1048Tyr) n.720T>A c.*2241T>A (n.*2241T>A) n.2644T>A c.3092T>A (p.Phe1031Tyr) c.2024T>A (p.Phe675Tyr) c.3104T>A (p.Phe1035Tyr) c.3002T>A (p.Phe1001Tyr) c.2276T>A (p.Phe759Tyr) | |
| 12 | g.21844870A>C | CA384118820 | ABCC9 | c.3142T>G (p.Phe1048Val) n.719T>G c.*2240T>G (n.*2240T>G) n.2643T>G c.3091T>G (p.Phe1031Val) c.2023T>G (p.Phe675Val) c.3103T>G (p.Phe1035Val) c.3001T>G (p.Phe1001Val) c.2275T>G (p.Phe759Val) | |
| 12 | g.21844870A>G | CA384118822 | ABCC9 | c.3142T>C (p.Phe1048Leu) n.719T>C c.*2240T>C (n.*2240T>C) n.2643T>C c.3091T>C (p.Phe1031Leu) c.2023T>C (p.Phe675Leu) c.3103T>C (p.Phe1035Leu) c.3001T>C (p.Phe1001Leu) c.2275T>C (p.Phe759Leu) | |
| 12 | g.21844870A>T | CA384118824 | ABCC9 | c.3142T>A (p.Phe1048Ile) n.719T>A c.*2240T>A (n.*2240T>A) n.2643T>A c.3091T>A (p.Phe1031Ile) c.2023T>A (p.Phe675Ile) c.3103T>A (p.Phe1035Ile) c.3001T>A (p.Phe1001Ile) c.2275T>A (p.Phe759Ile) | |
| 12 | g.21844871A= | CA2021314631 | ABCC9 | c.3141T= (p.Ile1047=) n.718T= c.*2239T= (n.*2239T=) n.2642T= c.3090T= (p.Ile1030=) c.2022T= (p.Ile674=) c.3102T= (p.Ile1034=) c.3000T= (p.Ile1000=) c.2274T= (p.Ile758=) | |
| 12 | g.21844871A>C | CA384118828 | ABCC9 | c.3141T>G (p.Ile1047Met) n.718T>G c.*2239T>G (n.*2239T>G) n.2642T>G c.3090T>G (p.Ile1030Met) c.2022T>G (p.Ile674Met) c.3102T>G (p.Ile1034Met) c.3000T>G (p.Ile1000Met) c.2274T>G (p.Ile758Met) | |
| 12 | g.21844871A>G | CA478870633 | ABCC9 | c.3141T>C (p.Ile1047=) n.718T>C c.*2239T>C (n.*2239T>C) n.2642T>C c.3090T>C (p.Ile1030=) c.2022T>C (p.Ile674=) c.3102T>C (p.Ile1034=) c.3000T>C (p.Ile1000=) c.2274T>C (p.Ile758=) | ClinVar dbSNP |
| 12 | g.21844871A>T | CA478870634 | ABCC9 | c.3141T>A (p.Ile1047=) n.718T>A c.*2239T>A (n.*2239T>A) n.2642T>A c.3090T>A (p.Ile1030=) c.2022T>A (p.Ile674=) c.3102T>A (p.Ile1034=) c.3000T>A (p.Ile1000=) c.2274T>A (p.Ile758=) | |
| 12 | g.21844872A= | CA2021314634 | ABCC9 | c.3140T= (p.Ile1047=) n.717T= c.*2238T= (n.*2238T=) n.2641T= c.3089T= (p.Ile1030=) c.2021T= (p.Ile674=) c.3101T= (p.Ile1034=) c.2999T= (p.Ile1000=) c.2273T= (p.Ile758=) | |
| 12 | g.21844872A>C | CA384118835 | ABCC9 | c.3140T>G (p.Ile1047Ser) n.717T>G c.*2238T>G (n.*2238T>G) n.2641T>G c.3089T>G (p.Ile1030Ser) c.2021T>G (p.Ile674Ser) c.3101T>G (p.Ile1034Ser) c.2999T>G (p.Ile1000Ser) c.2273T>G (p.Ile758Ser) | |
| 12 | g.21844872A>G | CA384118837 | ABCC9 | c.3140T>C (p.Ile1047Thr) n.717T>C c.*2238T>C (n.*2238T>C) n.2641T>C c.3089T>C (p.Ile1030Thr) c.2021T>C (p.Ile674Thr) c.3101T>C (p.Ile1034Thr) c.2999T>C (p.Ile1000Thr) c.2273T>C (p.Ile758Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844872A>T | CA384118839 | ABCC9 | c.3140T>A (p.Ile1047Asn) n.717T>A c.*2238T>A (n.*2238T>A) n.2641T>A c.3089T>A (p.Ile1030Asn) c.2021T>A (p.Ile674Asn) c.3101T>A (p.Ile1034Asn) c.2999T>A (p.Ile1000Asn) c.2273T>A (p.Ile758Asn) | |
| 12 | g.21844873T>A | CA384118842 | ABCC9 | c.3139A>T (p.Ile1047Phe) n.716A>T c.*2237A>T (n.*2237A>T) n.2640A>T c.3088A>T (p.Ile1030Phe) c.2020A>T (p.Ile674Phe) c.3100A>T (p.Ile1034Phe) c.2998A>T (p.Ile1000Phe) c.2272A>T (p.Ile758Phe) | |
| 12 | g.21844873T>C | CA384118843 | ABCC9 | c.3139A>G (p.Ile1047Val) n.716A>G c.*2237A>G (n.*2237A>G) n.2640A>G c.3088A>G (p.Ile1030Val) c.2020A>G (p.Ile674Val) c.3100A>G (p.Ile1034Val) c.2998A>G (p.Ile1000Val) c.2272A>G (p.Ile758Val) | |
| 12 | g.21844873T>G | CA384118841 | ABCC9 | c.3139A>C (p.Ile1047Leu) n.716A>C c.*2237A>C (n.*2237A>C) n.2640A>C c.3088A>C (p.Ile1030Leu) c.2020A>C (p.Ile674Leu) c.3100A>C (p.Ile1034Leu) c.2998A>C (p.Ile1000Leu) c.2272A>C (p.Ile758Leu) | |
| 12 | g.21844874G>A | CA478870637 | ABCC9 | c.3138C>T (p.Gly1046=) n.715C>T c.*2236C>T (n.*2236C>T) n.2639C>T c.3087C>T (p.Gly1029=) c.2019C>T (p.Gly673=) c.3099C>T (p.Gly1033=) c.2997C>T (p.Gly999=) c.2271C>T (p.Gly757=) | |
| 12 | g.21844874G>C | CA478870639 | ABCC9 | c.3138C>G (p.Gly1046=) n.715C>G c.*2236C>G (n.*2236C>G) n.2639C>G c.3087C>G (p.Gly1029=) c.2019C>G (p.Gly673=) c.3099C>G (p.Gly1033=) c.2997C>G (p.Gly999=) c.2271C>G (p.Gly757=) | |
| 12 | g.21844874G= | CA2021314639 | ABCC9 | c.3138C= (p.Gly1046=) n.715C= c.*2236C= (n.*2236C=) n.2639C= c.3087C= (p.Gly1029=) c.2019C= (p.Gly673=) c.3099C= (p.Gly1033=) c.2997C= (p.Gly999=) c.2271C= (p.Gly757=) | |
| 12 | g.21844874G>T | CA233594553 | ABCC9 | c.3138C>A (p.Gly1046=) n.715C>A c.*2236C>A (n.*2236C>A) n.2639C>A c.3087C>A (p.Gly1029=) c.2019C>A (p.Gly673=) c.3099C>A (p.Gly1033=) c.2997C>A (p.Gly999=) c.2271C>A (p.Gly757=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844875C>A | CA384118844 | ABCC9 | c.3137G>T (p.Gly1046Val) n.714G>T c.*2235G>T (n.*2235G>T) n.2638G>T c.3086G>T (p.Gly1029Val) c.2018G>T (p.Gly673Val) c.3098G>T (p.Gly1033Val) c.2996G>T (p.Gly999Val) c.2270G>T (p.Gly757Val) | |
| 12 | g.21844875C= | CA2021314643 | ABCC9 | c.3137G= (p.Gly1046=) n.714G= c.*2235G= (n.*2235G=) n.2638G= c.3086G= (p.Gly1029=) c.2018G= (p.Gly673=) c.3098G= (p.Gly1033=) c.2996G= (p.Gly999=) c.2270G= (p.Gly757=) | |
| 12 | g.21844875C>G | CA384118845 | ABCC9 | c.3137G>C (p.Gly1046Ala) n.714G>C c.*2235G>C (n.*2235G>C) n.2638G>C c.3086G>C (p.Gly1029Ala) c.2018G>C (p.Gly673Ala) c.3098G>C (p.Gly1033Ala) c.2996G>C (p.Gly999Ala) c.2270G>C (p.Gly757Ala) | dbSNP gnomAD v4 |
| 12 | g.21844875C>T | CA384118846 | ABCC9 | c.3137G>A (p.Gly1046Asp) n.714G>A c.*2235G>A (n.*2235G>A) n.2638G>A c.3086G>A (p.Gly1029Asp) c.2018G>A (p.Gly673Asp) c.3098G>A (p.Gly1033Asp) c.2996G>A (p.Gly999Asp) c.2270G>A (p.Gly757Asp) | |
| 12 | g.21844876C>A | CA384118848 | ABCC9 | c.3136G>T (p.Gly1046Cys) n.713G>T c.*2234G>T (n.*2234G>T) n.2637G>T c.3085G>T (p.Gly1029Cys) c.2017G>T (p.Gly673Cys) c.3097G>T (p.Gly1033Cys) c.2995G>T (p.Gly999Cys) c.2269G>T (p.Gly757Cys) | |
| 12 | g.21844876C>G | CA384118849 | ABCC9 | c.3136G>C (p.Gly1046Arg) n.713G>C c.*2234G>C (n.*2234G>C) n.2637G>C c.3085G>C (p.Gly1029Arg) c.2017G>C (p.Gly673Arg) c.3097G>C (p.Gly1033Arg) c.2995G>C (p.Gly999Arg) c.2269G>C (p.Gly757Arg) | |
| 12 | g.21844876C>T | CA384118851 | ABCC9 | c.3136G>A (p.Gly1046Ser) n.713G>A c.*2234G>A (n.*2234G>A) n.2637G>A c.3085G>A (p.Gly1029Ser) c.2017G>A (p.Gly673Ser) c.3097G>A (p.Gly1033Ser) c.2995G>A (p.Gly999Ser) c.2269G>A (p.Gly757Ser) | COSMIC COSMIC |
| 12 | g.21844877T>A | CA478870642 | ABCC9 | c.3135A>T (p.Ala1045=) n.712A>T c.*2233A>T (n.*2233A>T) n.2636A>T c.3084A>T (p.Ala1028=) c.2016A>T (p.Ala672=) c.3096A>T (p.Ala1032=) c.2994A>T (p.Ala998=) c.2268A>T (p.Ala756=) | |
| 12 | g.21844877T>C | CA478870640 | ABCC9 | c.3135A>G (p.Ala1045=) n.712A>G c.*2233A>G (n.*2233A>G) n.2636A>G c.3084A>G (p.Ala1028=) c.2016A>G (p.Ala672=) c.3096A>G (p.Ala1032=) c.2994A>G (p.Ala998=) c.2268A>G (p.Ala756=) | |
| 12 | g.21844877T>G | CA478870645 | ABCC9 | c.3135A>C (p.Ala1045=) n.712A>C c.*2233A>C (n.*2233A>C) n.2636A>C c.3084A>C (p.Ala1028=) c.2016A>C (p.Ala672=) c.3096A>C (p.Ala1032=) c.2994A>C (p.Ala998=) c.2268A>C (p.Ala756=) | |
| 12 | g.21844878G>A | CA384118855 | ABCC9 | c.3134C>T (p.Ala1045Val) n.711C>T c.*2232C>T (n.*2232C>T) n.2635C>T c.3083C>T (p.Ala1028Val) c.2015C>T (p.Ala672Val) c.3095C>T (p.Ala1032Val) c.2993C>T (p.Ala998Val) c.2267C>T (p.Ala756Val) | |
| 12 | g.21844878G>C | CA384118856 | ABCC9 | c.3134C>G (p.Ala1045Gly) n.711C>G c.*2232C>G (n.*2232C>G) n.2635C>G c.3083C>G (p.Ala1028Gly) c.2015C>G (p.Ala672Gly) c.3095C>G (p.Ala1032Gly) c.2993C>G (p.Ala998Gly) c.2267C>G (p.Ala756Gly) | gnomAD v4 |
| 12 | g.21844878G>T | CA384118858 | ABCC9 | c.3134C>A (p.Ala1045Glu) n.711C>A c.*2232C>A (n.*2232C>A) n.2635C>A c.3083C>A (p.Ala1028Glu) c.2015C>A (p.Ala672Glu) c.3095C>A (p.Ala1032Glu) c.2993C>A (p.Ala998Glu) c.2267C>A (p.Ala756Glu) | |
| 12 | g.21844879C>A | CA384118861 | ABCC9 | c.3133G>T (p.Ala1045Ser) n.710G>T c.*2231G>T (n.*2231G>T) n.2634G>T c.3082G>T (p.Ala1028Ser) c.2014G>T (p.Ala672Ser) c.3094G>T (p.Ala1032Ser) c.2992G>T (p.Ala998Ser) c.2266G>T (p.Ala756Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21844879C= | CA2021314646 | ABCC9 | c.3133G= (p.Ala1045=) n.710G= c.*2231G= (n.*2231G=) n.2634G= c.3082G= (p.Ala1028=) c.2014G= (p.Ala672=) c.3094G= (p.Ala1032=) c.2992G= (p.Ala998=) c.2266G= (p.Ala756=) | |
| 12 | g.21844879C>G | CA384118863 | ABCC9 | c.3133G>C (p.Ala1045Pro) n.710G>C c.*2231G>C (n.*2231G>C) n.2634G>C c.3082G>C (p.Ala1028Pro) c.2014G>C (p.Ala672Pro) c.3094G>C (p.Ala1032Pro) c.2992G>C (p.Ala998Pro) c.2266G>C (p.Ala756Pro) | |
| 12 | g.21844879C>T | CA384118865 | ABCC9 | c.3133G>A (p.Ala1045Thr) n.710G>A c.*2231G>A (n.*2231G>A) n.2634G>A c.3082G>A (p.Ala1028Thr) c.2014G>A (p.Ala672Thr) c.3094G>A (p.Ala1032Thr) c.2992G>A (p.Ala998Thr) c.2266G>A (p.Ala756Thr) | |
| 12 | g.21844880T>A | CA478870651 | ABCC9 | c.3132A>T (p.Gly1044=) n.709A>T c.*2230A>T (n.*2230A>T) n.2633A>T c.3081A>T (p.Gly1027=) c.2013A>T (p.Gly671=) c.3093A>T (p.Gly1031=) c.2991A>T (p.Gly997=) c.2265A>T (p.Gly755=) | |
| 12 | g.21844880T>C | CA478870652 | ABCC9 | c.3132A>G (p.Gly1044=) n.709A>G c.*2230A>G (n.*2230A>G) n.2633A>G c.3081A>G (p.Gly1027=) c.2013A>G (p.Gly671=) c.3093A>G (p.Gly1031=) c.2991A>G (p.Gly997=) c.2265A>G (p.Gly755=) | gnomAD v4 |
| 12 | g.21844880T>G | CA478870653 | ABCC9 | c.3132A>C (p.Gly1044=) n.709A>C c.*2230A>C (n.*2230A>C) n.2633A>C c.3081A>C (p.Gly1027=) c.2013A>C (p.Gly671=) c.3093A>C (p.Gly1031=) c.2991A>C (p.Gly997=) c.2265A>C (p.Gly755=) | |
| 12 | g.21844881C>A | CA384118877 | ABCC9 | c.3131G>T (p.Gly1044Val) n.708G>T c.*2229G>T (n.*2229G>T) n.2632G>T c.3080G>T (p.Gly1027Val) c.2012G>T (p.Gly671Val) c.3092G>T (p.Gly1031Val) c.2990G>T (p.Gly997Val) c.2264G>T (p.Gly755Val) | |
| 12 | g.21844881C= | CA2021314649 | ABCC9 | c.3131G= (p.Gly1044=) n.708G= c.*2229G= (n.*2229G=) n.2632G= c.3080G= (p.Gly1027=) c.2012G= (p.Gly671=) c.3092G= (p.Gly1031=) c.2990G= (p.Gly997=) c.2264G= (p.Gly755=) | |
| 12 | g.21844881C>G | CA384118867 | ABCC9 | c.3131G>C (p.Gly1044Ala) n.708G>C c.*2229G>C (n.*2229G>C) n.2632G>C c.3080G>C (p.Gly1027Ala) c.2012G>C (p.Gly671Ala) c.3092G>C (p.Gly1031Ala) c.2990G>C (p.Gly997Ala) c.2264G>C (p.Gly755Ala) | |
| 12 | g.21844881C>T | CA384118874 | ABCC9 | c.3131G>A (p.Gly1044Glu) n.708G>A c.*2229G>A (n.*2229G>A) n.2632G>A c.3080G>A (p.Gly1027Glu) c.2012G>A (p.Gly671Glu) c.3092G>A (p.Gly1031Glu) c.2990G>A (p.Gly997Glu) c.2264G>A (p.Gly755Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.21844882C>A | CA384118878 | ABCC9 | c.3130G>T (p.Gly1044Ter) n.707G>T c.*2228G>T (n.*2228G>T) n.2631G>T c.3079G>T (p.Gly1027Ter) c.2011G>T (p.Gly671Ter) c.3091G>T (p.Gly1031Ter) c.2989G>T (p.Gly997Ter) c.2263G>T (p.Gly755Ter) | |
| 12 | g.21844882C= | CA2021314652 | ABCC9 | c.3130G= (p.Gly1044=) n.707G= c.*2228G= (n.*2228G=) n.2631G= c.3079G= (p.Gly1027=) c.2011G= (p.Gly671=) c.3091G= (p.Gly1031=) c.2989G= (p.Gly997=) c.2263G= (p.Gly755=) | |
| 12 | g.21844882C>G | CA384118879 | ABCC9 | c.3130G>C (p.Gly1044Arg) n.707G>C c.*2228G>C (n.*2228G>C) n.2631G>C c.3079G>C (p.Gly1027Arg) c.2011G>C (p.Gly671Arg) c.3091G>C (p.Gly1031Arg) c.2989G>C (p.Gly997Arg) c.2263G>C (p.Gly755Arg) | |
| 12 | g.21844882C>T | CA384118880 | ABCC9 | c.3130G>A (p.Gly1044Arg) n.707G>A c.*2228G>A (n.*2228G>A) n.2631G>A c.3079G>A (p.Gly1027Arg) c.2011G>A (p.Gly671Arg) c.3091G>A (p.Gly1031Arg) c.2989G>A (p.Gly997Arg) c.2263G>A (p.Gly755Arg) | dbSNP |
| 12 | g.21844883A= | CA2021314654 | ABCC9 | c.3129T= (p.Cys1043=) n.706T= c.*2227T= (n.*2227T=) n.2630T= c.3078T= (p.Cys1026=) c.2010T= (p.Cys670=) c.3090T= (p.Cys1030=) c.2988T= (p.Cys996=) c.2262T= (p.Cys754=) | |
| 12 | g.21844883A>C | CA384118882 | ABCC9 | c.3129T>G (p.Cys1043Trp) n.706T>G c.*2227T>G (n.*2227T>G) n.2630T>G c.3078T>G (p.Cys1026Trp) c.2010T>G (p.Cys670Trp) c.3090T>G (p.Cys1030Trp) c.2988T>G (p.Cys996Trp) c.2262T>G (p.Cys754Trp) | |
| 12 | g.21844883A>G | CA6481193 | ABCC9 | c.3129T>C (p.Cys1043=) n.706T>C c.*2227T>C (n.*2227T>C) n.2630T>C c.3078T>C (p.Cys1026=) c.2010T>C (p.Cys670=) c.3090T>C (p.Cys1030=) c.2988T>C (p.Cys996=) c.2262T>C (p.Cys754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844883A>T | CA384118885 | ABCC9 | c.3129T>A (p.Cys1043Ter) n.706T>A c.*2227T>A (n.*2227T>A) n.2630T>A c.3078T>A (p.Cys1026Ter) c.2010T>A (p.Cys670Ter) c.3090T>A (p.Cys1030Ter) c.2988T>A (p.Cys996Ter) c.2262T>A (p.Cys754Ter) | |
| 12 | g.21844884C>A | CA384118891 | ABCC9 | c.3128G>T (p.Cys1043Phe) n.705G>T c.*2226G>T (n.*2226G>T) n.2629G>T c.3077G>T (p.Cys1026Phe) c.2009G>T (p.Cys670Phe) c.3089G>T (p.Cys1030Phe) c.2987G>T (p.Cys996Phe) c.2261G>T (p.Cys754Phe) | |
| 12 | g.21844884C= | CA2021314656 | ABCC9 | c.3128G= (p.Cys1043=) n.705G= c.*2226G= (n.*2226G=) n.2629G= c.3077G= (p.Cys1026=) c.2009G= (p.Cys670=) c.3089G= (p.Cys1030=) c.2987G= (p.Cys996=) c.2261G= (p.Cys754=) | |
| 12 | g.21844884C>G | CA384118898 | ABCC9 | c.3128G>C (p.Cys1043Ser) n.705G>C c.*2226G>C (n.*2226G>C) n.2629G>C c.3077G>C (p.Cys1026Ser) c.2009G>C (p.Cys670Ser) c.3089G>C (p.Cys1030Ser) c.2987G>C (p.Cys996Ser) c.2261G>C (p.Cys754Ser) | |
| 12 | g.21844884C>T | CA260066 | ABCC9 | c.3128G>A (p.Cys1043Tyr) n.705G>A c.*2226G>A (n.*2226G>A) n.2629G>A c.3077G>A (p.Cys1026Tyr) c.2009G>A (p.Cys670Tyr) c.3089G>A (p.Cys1030Tyr) c.2987G>A (p.Cys996Tyr) c.2261G>A (p.Cys754Tyr) | ClinVar dbSNP |
| 12 | g.21844885A>C | CA384118907 | ABCC9 | c.3127T>G (p.Cys1043Gly) n.704T>G c.*2225T>G (n.*2225T>G) n.2628T>G c.3076T>G (p.Cys1026Gly) c.2008T>G (p.Cys670Gly) c.3088T>G (p.Cys1030Gly) c.2986T>G (p.Cys996Gly) c.2260T>G (p.Cys754Gly) | |
| 12 | g.21844885A>G | CA384118909 | ABCC9 | c.3127T>C (p.Cys1043Arg) n.704T>C c.*2225T>C (n.*2225T>C) n.2628T>C c.3076T>C (p.Cys1026Arg) c.2008T>C (p.Cys670Arg) c.3088T>C (p.Cys1030Arg) c.2986T>C (p.Cys996Arg) c.2260T>C (p.Cys754Arg) | |
| 12 | g.21844885A>T | CA384118915 | ABCC9 | c.3127T>A (p.Cys1043Ser) n.704T>A c.*2225T>A (n.*2225T>A) n.2628T>A c.3076T>A (p.Cys1026Ser) c.2008T>A (p.Cys670Ser) c.3088T>A (p.Cys1030Ser) c.2986T>A (p.Cys996Ser) c.2260T>A (p.Cys754Ser) | |
| 12 | g.21844886G>A | CA478870665 | ABCC9 | c.3126C>T (p.Leu1042=) n.703C>T c.*2224C>T (n.*2224C>T) n.2627C>T c.3075C>T (p.Leu1025=) c.2007C>T (p.Leu669=) c.3087C>T (p.Leu1029=) c.2985C>T (p.Leu995=) c.2259C>T (p.Leu753=) | |
| 12 | g.21844886G>C | CA478870666 | ABCC9 | c.3126C>G (p.Leu1042=) n.703C>G c.*2224C>G (n.*2224C>G) n.2627C>G c.3075C>G (p.Leu1025=) c.2007C>G (p.Leu669=) c.3087C>G (p.Leu1029=) c.2985C>G (p.Leu995=) c.2259C>G (p.Leu753=) | |
| 12 | g.21844886G>T | CA478870668 | ABCC9 | c.3126C>A (p.Leu1042=) n.703C>A c.*2224C>A (n.*2224C>A) n.2627C>A c.3075C>A (p.Leu1025=) c.2007C>A (p.Leu669=) c.3087C>A (p.Leu1029=) c.2985C>A (p.Leu995=) c.2259C>A (p.Leu753=) | |
| 12 | g.21844887A>C | CA384118933 | ABCC9 | c.3125T>G (p.Leu1042Arg) n.702T>G c.*2223T>G (n.*2223T>G) n.2626T>G c.3074T>G (p.Leu1025Arg) c.2006T>G (p.Leu669Arg) c.3086T>G (p.Leu1029Arg) c.2984T>G (p.Leu995Arg) c.2258T>G (p.Leu753Arg) | |
| 12 | g.21844887A>G | CA384118918 | ABCC9 | c.3125T>C (p.Leu1042Pro) n.702T>C c.*2223T>C (n.*2223T>C) n.2626T>C c.3074T>C (p.Leu1025Pro) c.2006T>C (p.Leu669Pro) c.3086T>C (p.Leu1029Pro) c.2984T>C (p.Leu995Pro) c.2258T>C (p.Leu753Pro) | |
| 12 | g.21844887A>T | CA384118917 | ABCC9 | c.3125T>A (p.Leu1042His) n.702T>A c.*2223T>A (n.*2223T>A) n.2626T>A c.3074T>A (p.Leu1025His) c.2006T>A (p.Leu669His) c.3086T>A (p.Leu1029His) c.2984T>A (p.Leu995His) c.2258T>A (p.Leu753His) | |
| 12 | g.21844888G>A | CA384118936 | ABCC9 | c.3124C>T (p.Leu1042Phe) n.701C>T c.*2222C>T (n.*2222C>T) n.2625C>T c.3073C>T (p.Leu1025Phe) c.2005C>T (p.Leu669Phe) c.3085C>T (p.Leu1029Phe) c.2983C>T (p.Leu995Phe) c.2257C>T (p.Leu753Phe) | gnomAD v4 |
| 12 | g.21844888G>C | CA384118939 | ABCC9 | c.3124C>G (p.Leu1042Val) n.701C>G c.*2222C>G (n.*2222C>G) n.2625C>G c.3073C>G (p.Leu1025Val) c.2005C>G (p.Leu669Val) c.3085C>G (p.Leu1029Val) c.2983C>G (p.Leu995Val) c.2257C>G (p.Leu753Val) | |
| 12 | g.21844888G>T | CA384118937 | ABCC9 | c.3124C>A (p.Leu1042Ile) n.701C>A c.*2222C>A (n.*2222C>A) n.2625C>A c.3073C>A (p.Leu1025Ile) c.2005C>A (p.Leu669Ile) c.3085C>A (p.Leu1029Ile) c.2983C>A (p.Leu995Ile) c.2257C>A (p.Leu753Ile) | |
| 12 | g.21844889T>A | CA478870675 | ABCC9 | c.3123A>T (p.Ile1041=) n.700A>T c.*2221A>T (n.*2221A>T) n.2624A>T c.3072A>T (p.Ile1024=) c.2004A>T (p.Ile668=) c.3084A>T (p.Ile1028=) c.2982A>T (p.Ile994=) c.2256A>T (p.Ile752=) | gnomAD v4 |
| 12 | g.21844889T>C | CA384118942 | ABCC9 | c.3123A>G (p.Ile1041Met) n.700A>G c.*2221A>G (n.*2221A>G) n.2624A>G c.3072A>G (p.Ile1024Met) c.2004A>G (p.Ile668Met) c.3084A>G (p.Ile1028Met) c.2982A>G (p.Ile994Met) c.2256A>G (p.Ile752Met) | |
| 12 | g.21844889T>G | CA478870678 | ABCC9 | c.3123A>C (p.Ile1041=) n.700A>C c.*2221A>C (n.*2221A>C) n.2624A>C c.3072A>C (p.Ile1024=) c.2004A>C (p.Ile668=) c.3084A>C (p.Ile1028=) c.2982A>C (p.Ile994=) c.2256A>C (p.Ile752=) | |
| 12 | g.21844890A>C | CA384118945 | ABCC9 | c.3122T>G (p.Ile1041Arg) n.699T>G c.*2220T>G (n.*2220T>G) n.2623T>G c.3071T>G (p.Ile1024Arg) c.2003T>G (p.Ile668Arg) c.3083T>G (p.Ile1028Arg) c.2981T>G (p.Ile994Arg) c.2255T>G (p.Ile752Arg) | |
| 12 | g.21844890A>G | CA384118947 | ABCC9 | c.3122T>C (p.Ile1041Thr) n.699T>C c.*2220T>C (n.*2220T>C) n.2623T>C c.3071T>C (p.Ile1024Thr) c.2003T>C (p.Ile668Thr) c.3083T>C (p.Ile1028Thr) c.2981T>C (p.Ile994Thr) c.2255T>C (p.Ile752Thr) | |
| 12 | g.21844890A>T | CA384118960 | ABCC9 | c.3122T>A (p.Ile1041Lys) n.699T>A c.*2220T>A (n.*2220T>A) n.2623T>A c.3071T>A (p.Ile1024Lys) c.2003T>A (p.Ile668Lys) c.3083T>A (p.Ile1028Lys) c.2981T>A (p.Ile994Lys) c.2255T>A (p.Ile752Lys) | |
| 12 | g.21844891T>A | CA384118963 | ABCC9 | c.3121A>T (p.Ile1041Leu) n.698A>T c.*2219A>T (n.*2219A>T) n.2622A>T c.3070A>T (p.Ile1024Leu) c.2002A>T (p.Ile668Leu) c.3082A>T (p.Ile1028Leu) c.2980A>T (p.Ile994Leu) c.2254A>T (p.Ile752Leu) | |
| 12 | g.21844891T>C | CA384118964 | ABCC9 | c.3121A>G (p.Ile1041Val) n.698A>G c.*2219A>G (n.*2219A>G) n.2622A>G c.3070A>G (p.Ile1024Val) c.2002A>G (p.Ile668Val) c.3082A>G (p.Ile1028Val) c.2980A>G (p.Ile994Val) c.2254A>G (p.Ile752Val) | |
| 12 | g.21844891T>G | CA384118965 | ABCC9 | c.3121A>C (p.Ile1041Leu) n.698A>C c.*2219A>C (n.*2219A>C) n.2622A>C c.3070A>C (p.Ile1024Leu) c.2002A>C (p.Ile668Leu) c.3082A>C (p.Ile1028Leu) c.2980A>C (p.Ile994Leu) c.2254A>C (p.Ile752Leu) | |
| 12 | g.21844892G>A | CA478870684 | ABCC9 | c.3120C>T (p.Ser1040=) n.697C>T c.*2218C>T (n.*2218C>T) n.2621C>T c.3069C>T (p.Ser1023=) c.2001C>T (p.Ser667=) c.3081C>T (p.Ser1027=) c.2979C>T (p.Ser993=) c.2253C>T (p.Ser751=) | |
| 12 | g.21844892G>C | CA384118966 | ABCC9 | c.3120C>G (p.Ser1040Arg) n.697C>G c.*2218C>G (n.*2218C>G) n.2621C>G c.3069C>G (p.Ser1023Arg) c.2001C>G (p.Ser667Arg) c.3081C>G (p.Ser1027Arg) c.2979C>G (p.Ser993Arg) c.2253C>G (p.Ser751Arg) | |
| 12 | g.21844892G>T | CA384118967 | ABCC9 | c.3120C>A (p.Ser1040Arg) n.697C>A c.*2218C>A (n.*2218C>A) n.2621C>A c.3069C>A (p.Ser1023Arg) c.2001C>A (p.Ser667Arg) c.3081C>A (p.Ser1027Arg) c.2979C>A (p.Ser993Arg) c.2253C>A (p.Ser751Arg) | |
| 12 | g.21844893C>A | CA384118969 | ABCC9 | c.3119G>T (p.Ser1040Ile) n.696G>T c.*2217G>T (n.*2217G>T) n.2620G>T c.3068G>T (p.Ser1023Ile) c.2000G>T (p.Ser667Ile) c.3080G>T (p.Ser1027Ile) c.2978G>T (p.Ser993Ile) c.2252G>T (p.Ser751Ile) | COSMIC COSMIC |
| 12 | g.21844893C>G | CA384118971 | ABCC9 | c.3119G>C (p.Ser1040Thr) n.696G>C c.*2217G>C (n.*2217G>C) n.2620G>C c.3068G>C (p.Ser1023Thr) c.2000G>C (p.Ser667Thr) c.3080G>C (p.Ser1027Thr) c.2978G>C (p.Ser993Thr) c.2252G>C (p.Ser751Thr) | |
| 12 | g.21844893C>T | CA384118973 | ABCC9 | c.3119G>A (p.Ser1040Asn) n.696G>A c.*2217G>A (n.*2217G>A) n.2620G>A c.3068G>A (p.Ser1023Asn) c.2000G>A (p.Ser667Asn) c.3080G>A (p.Ser1027Asn) c.2978G>A (p.Ser993Asn) c.2252G>A (p.Ser751Asn) |