| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.21844894T>A | CA384118975 | ABCC9 | c.3118A>T (p.Ser1040Cys) n.695A>T c.*2216A>T (n.*2216A>T) n.2619A>T c.3067A>T (p.Ser1023Cys) c.1999A>T (p.Ser667Cys) c.3079A>T (p.Ser1027Cys) c.2977A>T (p.Ser993Cys) c.2251A>T (p.Ser751Cys) | |
| 12 | g.21844894T>C | CA384118976 | ABCC9 | c.3118A>G (p.Ser1040Gly) n.695A>G c.*2216A>G (n.*2216A>G) n.2619A>G c.3067A>G (p.Ser1023Gly) c.1999A>G (p.Ser667Gly) c.3079A>G (p.Ser1027Gly) c.2977A>G (p.Ser993Gly) c.2251A>G (p.Ser751Gly) | |
| 12 | g.21844894T>G | CA384118977 | ABCC9 | c.3118A>C (p.Ser1040Arg) n.695A>C c.*2216A>C (n.*2216A>C) n.2619A>C c.3067A>C (p.Ser1023Arg) c.1999A>C (p.Ser667Arg) c.3079A>C (p.Ser1027Arg) c.2977A>C (p.Ser993Arg) c.2251A>C (p.Ser751Arg) | |
| 12 | g.21844895A>C | CA384118978 | ABCC9 | c.3117T>G (p.Phe1039Leu) n.694T>G c.*2215T>G (n.*2215T>G) n.2618T>G c.3066T>G (p.Phe1022Leu) c.1998T>G (p.Phe666Leu) c.3078T>G (p.Phe1026Leu) c.2976T>G (p.Phe992Leu) c.2250T>G (p.Phe750Leu) | |
| 12 | g.21844895A>G | CA478870690 | ABCC9 | c.3117T>C (p.Phe1039=) n.694T>C c.*2215T>C (n.*2215T>C) n.2618T>C c.3066T>C (p.Phe1022=) c.1998T>C (p.Phe666=) c.3078T>C (p.Phe1026=) c.2976T>C (p.Phe992=) c.2250T>C (p.Phe750=) | gnomAD v4 |
| 12 | g.21844895A>T | CA384118979 | ABCC9 | c.3117T>A (p.Phe1039Leu) n.694T>A c.*2215T>A (n.*2215T>A) n.2618T>A c.3066T>A (p.Phe1022Leu) c.1998T>A (p.Phe666Leu) c.3078T>A (p.Phe1026Leu) c.2976T>A (p.Phe992Leu) c.2250T>A (p.Phe750Leu) | |
| 12 | g.21844896A>C | CA384118980 | ABCC9 | c.3116T>G (p.Phe1039Cys) n.693T>G c.*2214T>G (n.*2214T>G) n.2617T>G c.3065T>G (p.Phe1022Cys) c.1997T>G (p.Phe666Cys) c.3077T>G (p.Phe1026Cys) c.2975T>G (p.Phe992Cys) c.2249T>G (p.Phe750Cys) | |
| 12 | g.21844896A>G | CA384118981 | ABCC9 | c.3116T>C (p.Phe1039Ser) n.693T>C c.*2214T>C (n.*2214T>C) n.2617T>C c.3065T>C (p.Phe1022Ser) c.1997T>C (p.Phe666Ser) c.3077T>C (p.Phe1026Ser) c.2975T>C (p.Phe992Ser) c.2249T>C (p.Phe750Ser) | |
| 12 | g.21844896A>T | CA384118982 | ABCC9 | c.3116T>A (p.Phe1039Tyr) n.693T>A c.*2214T>A (n.*2214T>A) n.2617T>A c.3065T>A (p.Phe1022Tyr) c.1997T>A (p.Phe666Tyr) c.3077T>A (p.Phe1026Tyr) c.2975T>A (p.Phe992Tyr) c.2249T>A (p.Phe750Tyr) | |
| 12 | g.21844897A>C | CA384118984 | ABCC9 | c.3115T>G (p.Phe1039Val) n.692T>G c.*2213T>G (n.*2213T>G) n.2616T>G c.3064T>G (p.Phe1022Val) c.1996T>G (p.Phe666Val) c.3076T>G (p.Phe1026Val) c.2974T>G (p.Phe992Val) c.2248T>G (p.Phe750Val) | |
| 12 | g.21844897A>G | CA384118990 | ABCC9 | c.3115T>C (p.Phe1039Leu) n.692T>C c.*2213T>C (n.*2213T>C) n.2616T>C c.3064T>C (p.Phe1022Leu) c.1996T>C (p.Phe666Leu) c.3076T>C (p.Phe1026Leu) c.2974T>C (p.Phe992Leu) c.2248T>C (p.Phe750Leu) | |
| 12 | g.21844897A>T | CA384118992 | ABCC9 | c.3115T>A (p.Phe1039Ile) n.692T>A c.*2213T>A (n.*2213T>A) n.2616T>A c.3064T>A (p.Phe1022Ile) c.1996T>A (p.Phe666Ile) c.3076T>A (p.Phe1026Ile) c.2974T>A (p.Phe992Ile) c.2248T>A (p.Phe750Ile) | |
| 12 | g.21844898G>A | CA478870693 | ABCC9 | c.3114C>T (p.Gly1038=) n.691C>T c.*2212C>T (n.*2212C>T) n.2615C>T c.3063C>T (p.Gly1021=) c.1995C>T (p.Gly665=) c.3075C>T (p.Gly1025=) c.2973C>T (p.Gly991=) c.2247C>T (p.Gly749=) | |
| 12 | g.21844898G>C | CA478870695 | ABCC9 | c.3114C>G (p.Gly1038=) n.691C>G c.*2212C>G (n.*2212C>G) n.2615C>G c.3063C>G (p.Gly1021=) c.1995C>G (p.Gly665=) c.3075C>G (p.Gly1025=) c.2973C>G (p.Gly991=) c.2247C>G (p.Gly749=) | |
| 12 | g.21844898G>T | CA478870697 | ABCC9 | c.3114C>A (p.Gly1038=) n.691C>A c.*2212C>A (n.*2212C>A) n.2615C>A c.3063C>A (p.Gly1021=) c.1995C>A (p.Gly665=) c.3075C>A (p.Gly1025=) c.2973C>A (p.Gly991=) c.2247C>A (p.Gly749=) | gnomAD v4 |
| 12 | g.21844899C>A | CA384118995 | ABCC9 | c.3113G>T (p.Gly1038Val) n.690G>T c.*2211G>T (n.*2211G>T) n.2614G>T c.3062G>T (p.Gly1021Val) c.1994G>T (p.Gly665Val) c.3074G>T (p.Gly1025Val) c.2972G>T (p.Gly991Val) c.2246G>T (p.Gly749Val) | |
| 12 | g.21844899C>G | CA384119000 | ABCC9 | c.3113G>C (p.Gly1038Ala) n.690G>C c.*2211G>C (n.*2211G>C) n.2614G>C c.3062G>C (p.Gly1021Ala) c.1994G>C (p.Gly665Ala) c.3074G>C (p.Gly1025Ala) c.2972G>C (p.Gly991Ala) c.2246G>C (p.Gly749Ala) | |
| 12 | g.21844899C>T | CA384119003 | ABCC9 | c.3113G>A (p.Gly1038Asp) n.690G>A c.*2211G>A (n.*2211G>A) n.2614G>A c.3062G>A (p.Gly1021Asp) c.1994G>A (p.Gly665Asp) c.3074G>A (p.Gly1025Asp) c.2972G>A (p.Gly991Asp) c.2246G>A (p.Gly749Asp) | gnomAD v4 |
| 12 | g.21844900C>A | CA384119010 | ABCC9 | c.3112G>T (p.Gly1038Cys) n.689G>T c.*2210G>T (n.*2210G>T) n.2613G>T c.3061G>T (p.Gly1021Cys) c.1993G>T (p.Gly665Cys) c.3073G>T (p.Gly1025Cys) c.2971G>T (p.Gly991Cys) c.2245G>T (p.Gly749Cys) | |
| 12 | g.21844900C>G | CA384119012 | ABCC9 | c.3112G>C (p.Gly1038Arg) n.689G>C c.*2210G>C (n.*2210G>C) n.2613G>C c.3061G>C (p.Gly1021Arg) c.1993G>C (p.Gly665Arg) c.3073G>C (p.Gly1025Arg) c.2971G>C (p.Gly991Arg) c.2245G>C (p.Gly749Arg) | |
| 12 | g.21844900C>T | CA384119013 | ABCC9 | c.3112G>A (p.Gly1038Ser) n.689G>A c.*2210G>A (n.*2210G>A) n.2613G>A c.3061G>A (p.Gly1021Ser) c.1993G>A (p.Gly665Ser) c.3073G>A (p.Gly1025Ser) c.2971G>A (p.Gly991Ser) c.2245G>A (p.Gly749Ser) | |
| 12 | g.21844901A>C | CA478870701 | ABCC9 | c.3111T>G (p.Ala1037=) n.688T>G c.*2209T>G (n.*2209T>G) n.2612T>G c.3060T>G (p.Ala1020=) c.1992T>G (p.Ala664=) c.3072T>G (p.Ala1024=) c.2970T>G (p.Ala990=) c.2244T>G (p.Ala748=) | |
| 12 | g.21844901A>G | CA478870702 | ABCC9 | c.3111T>C (p.Ala1037=) n.688T>C c.*2209T>C (n.*2209T>C) n.2612T>C c.3060T>C (p.Ala1020=) c.1992T>C (p.Ala664=) c.3072T>C (p.Ala1024=) c.2970T>C (p.Ala990=) c.2244T>C (p.Ala748=) | |
| 12 | g.21844901A>T | CA478870704 | ABCC9 | c.3111T>A (p.Ala1037=) n.688T>A c.*2209T>A (n.*2209T>A) n.2612T>A c.3060T>A (p.Ala1020=) c.1992T>A (p.Ala664=) c.3072T>A (p.Ala1024=) c.2970T>A (p.Ala990=) c.2244T>A (p.Ala748=) | |
| 12 | g.21844902G>A | CA6481194 | ABCC9 | c.3110C>T (p.Ala1037Val) n.687C>T c.*2208C>T (n.*2208C>T) n.2611C>T c.3059C>T (p.Ala1020Val) c.1991C>T (p.Ala664Val) c.3071C>T (p.Ala1024Val) c.2969C>T (p.Ala990Val) c.2243C>T (p.Ala748Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844902G>C | CA384119016 | ABCC9 | c.3110C>G (p.Ala1037Gly) n.687C>G c.*2208C>G (n.*2208C>G) n.2611C>G c.3059C>G (p.Ala1020Gly) c.1991C>G (p.Ala664Gly) c.3071C>G (p.Ala1024Gly) c.2969C>G (p.Ala990Gly) c.2243C>G (p.Ala748Gly) | |
| 12 | g.21844902G= | CA2021314659 | ABCC9 | c.3110C= (p.Ala1037=) n.687C= c.*2208C= (n.*2208C=) n.2611C= c.3059C= (p.Ala1020=) c.1991C= (p.Ala664=) c.3071C= (p.Ala1024=) c.2969C= (p.Ala990=) c.2243C= (p.Ala748=) | |
| 12 | g.21844902G>T | CA384119014 | ABCC9 | c.3110C>A (p.Ala1037Asp) n.687C>A c.*2208C>A (n.*2208C>A) n.2611C>A c.3059C>A (p.Ala1020Asp) c.1991C>A (p.Ala664Asp) c.3071C>A (p.Ala1024Asp) c.2969C>A (p.Ala990Asp) c.2243C>A (p.Ala748Asp) | |
| 12 | g.21844903C>A | CA384119017 | ABCC9 | c.3109G>T (p.Ala1037Ser) n.686G>T c.*2207G>T (n.*2207G>T) n.2610G>T c.3058G>T (p.Ala1020Ser) c.1990G>T (p.Ala664Ser) c.3070G>T (p.Ala1024Ser) c.2968G>T (p.Ala990Ser) c.2242G>T (p.Ala748Ser) | dbSNP |
| 12 | g.21844903C= | CA2021314661 | ABCC9 | c.3109G= (p.Ala1037=) n.686G= c.*2207G= (n.*2207G=) n.2610G= c.3058G= (p.Ala1020=) c.1990G= (p.Ala664=) c.3070G= (p.Ala1024=) c.2968G= (p.Ala990=) c.2242G= (p.Ala748=) | |
| 12 | g.21844903C>G | CA384119018 | ABCC9 | c.3109G>C (p.Ala1037Pro) n.686G>C c.*2207G>C (n.*2207G>C) n.2610G>C c.3058G>C (p.Ala1020Pro) c.1990G>C (p.Ala664Pro) c.3070G>C (p.Ala1024Pro) c.2968G>C (p.Ala990Pro) c.2242G>C (p.Ala748Pro) | |
| 12 | g.21844903C>T | CA384119019 | ABCC9 | c.3109G>A (p.Ala1037Thr) n.686G>A c.*2207G>A (n.*2207G>A) n.2610G>A c.3058G>A (p.Ala1020Thr) c.1990G>A (p.Ala664Thr) c.3070G>A (p.Ala1024Thr) c.2968G>A (p.Ala990Thr) c.2242G>A (p.Ala748Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844904C>A | CA478870706 | ABCC9 | c.3108G>T (p.Val1036=) n.685G>T c.*2206G>T (n.*2206G>T) n.2609G>T c.3057G>T (p.Val1019=) c.1989G>T (p.Val663=) c.3069G>T (p.Val1023=) c.2967G>T (p.Val989=) c.2241G>T (p.Val747=) | |
| 12 | g.21844904C>G | CA478870708 | ABCC9 | c.3108G>C (p.Val1036=) n.685G>C c.*2206G>C (n.*2206G>C) n.2609G>C c.3057G>C (p.Val1019=) c.1989G>C (p.Val663=) c.3069G>C (p.Val1023=) c.2967G>C (p.Val989=) c.2241G>C (p.Val747=) | |
| 12 | g.21844904C>T | CA478870711 | ABCC9 | c.3108G>A (p.Val1036=) n.685G>A c.*2206G>A (n.*2206G>A) n.2609G>A c.3057G>A (p.Val1019=) c.1989G>A (p.Val663=) c.3069G>A (p.Val1023=) c.2967G>A (p.Val989=) c.2241G>A (p.Val747=) | |
| 12 | g.21844905A= | CA2021314666 | ABCC9 | c.3107T= (p.Val1036=) n.684T= c.*2205T= (n.*2205T=) n.2608T= c.3056T= (p.Val1019=) c.1988T= (p.Val663=) c.3068T= (p.Val1023=) c.2966T= (p.Val989=) c.2240T= (p.Val747=) | |
| 12 | g.21844905A>C | CA384119021 | ABCC9 | c.3107T>G (p.Val1036Gly) n.684T>G c.*2205T>G (n.*2205T>G) n.2608T>G c.3056T>G (p.Val1019Gly) c.1988T>G (p.Val663Gly) c.3068T>G (p.Val1023Gly) c.2966T>G (p.Val989Gly) c.2240T>G (p.Val747Gly) | |
| 12 | g.21844905A>G | CA384119022 | ABCC9 | c.3107T>C (p.Val1036Ala) n.684T>C c.*2205T>C (n.*2205T>C) n.2608T>C c.3056T>C (p.Val1019Ala) c.1988T>C (p.Val663Ala) c.3068T>C (p.Val1023Ala) c.2966T>C (p.Val989Ala) c.2240T>C (p.Val747Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844905A>T | CA384119023 | ABCC9 | c.3107T>A (p.Val1036Glu) n.684T>A c.*2205T>A (n.*2205T>A) n.2608T>A c.3056T>A (p.Val1019Glu) c.1988T>A (p.Val663Glu) c.3068T>A (p.Val1023Glu) c.2966T>A (p.Val989Glu) c.2240T>A (p.Val747Glu) | |
| 12 | g.21844906C>A | CA384119030 | ABCC9 | c.3106G>T (p.Val1036Leu) n.683G>T c.*2204G>T (n.*2204G>T) n.2607G>T c.3055G>T (p.Val1019Leu) c.1987G>T (p.Val663Leu) c.3067G>T (p.Val1023Leu) c.2965G>T (p.Val989Leu) c.2239G>T (p.Val747Leu) | |
| 12 | g.21844906C>G | CA384119032 | ABCC9 | c.3106G>C (p.Val1036Leu) n.683G>C c.*2204G>C (n.*2204G>C) n.2607G>C c.3055G>C (p.Val1019Leu) c.1987G>C (p.Val663Leu) c.3067G>C (p.Val1023Leu) c.2965G>C (p.Val989Leu) c.2239G>C (p.Val747Leu) | |
| 12 | g.21844906C>T | CA384119033 | ABCC9 | c.3106G>A (p.Val1036Met) n.683G>A c.*2204G>A (n.*2204G>A) n.2607G>A c.3055G>A (p.Val1019Met) c.1987G>A (p.Val663Met) c.3067G>A (p.Val1023Met) c.2965G>A (p.Val989Met) c.2239G>A (p.Val747Met) | |
| 12 | g.21844907A= | CA2021314669 | ABCC9 | c.3105T= (p.Tyr1035=) n.682T= c.*2203T= (n.*2203T=) n.2606T= c.3054T= (p.Tyr1018=) c.1986T= (p.Tyr662=) c.3066T= (p.Tyr1022=) c.2964T= (p.Tyr988=) c.2238T= (p.Tyr746=) | |
| 12 | g.21844907A>C | CA384119036 | ABCC9 | c.3105T>G (p.Tyr1035Ter) n.682T>G c.*2203T>G (n.*2203T>G) n.2606T>G c.3054T>G (p.Tyr1018Ter) c.1986T>G (p.Tyr662Ter) c.3066T>G (p.Tyr1022Ter) c.2964T>G (p.Tyr988Ter) c.2238T>G (p.Tyr746Ter) | gnomAD v4 |
| 12 | g.21844907A>G | CA233594576 | ABCC9 | c.3105T>C (p.Tyr1035=) n.682T>C c.*2203T>C (n.*2203T>C) n.2606T>C c.3054T>C (p.Tyr1018=) c.1986T>C (p.Tyr662=) c.3066T>C (p.Tyr1022=) c.2964T>C (p.Tyr988=) c.2238T>C (p.Tyr746=) | dbSNP |
| 12 | g.21844907A>T | CA384119038 | ABCC9 | c.3105T>A (p.Tyr1035Ter) n.682T>A c.*2203T>A (n.*2203T>A) n.2606T>A c.3054T>A (p.Tyr1018Ter) c.1986T>A (p.Tyr662Ter) c.3066T>A (p.Tyr1022Ter) c.2964T>A (p.Tyr988Ter) c.2238T>A (p.Tyr746Ter) | |
| 12 | g.21844908T>A | CA384119044 | ABCC9 | c.3104A>T (p.Tyr1035Phe) n.681A>T c.*2202A>T (n.*2202A>T) n.2605A>T c.3053A>T (p.Tyr1018Phe) c.1985A>T (p.Tyr662Phe) c.3065A>T (p.Tyr1022Phe) c.2963A>T (p.Tyr988Phe) c.2237A>T (p.Tyr746Phe) | |
| 12 | g.21844908T>C | CA384119042 | ABCC9 | c.3104A>G (p.Tyr1035Cys) n.681A>G c.*2202A>G (n.*2202A>G) n.2605A>G c.3053A>G (p.Tyr1018Cys) c.1985A>G (p.Tyr662Cys) c.3065A>G (p.Tyr1022Cys) c.2963A>G (p.Tyr988Cys) c.2237A>G (p.Tyr746Cys) | |
| 12 | g.21844908T>G | CA384119040 | ABCC9 | c.3104A>C (p.Tyr1035Ser) n.681A>C c.*2202A>C (n.*2202A>C) n.2605A>C c.3053A>C (p.Tyr1018Ser) c.1985A>C (p.Tyr662Ser) c.3065A>C (p.Tyr1022Ser) c.2963A>C (p.Tyr988Ser) c.2237A>C (p.Tyr746Ser) | |
| 12 | g.21844909A>C | CA384119046 | ABCC9 | c.3103T>G (p.Tyr1035Asp) n.680T>G c.*2201T>G (n.*2201T>G) n.2604T>G c.3052T>G (p.Tyr1018Asp) c.1984T>G (p.Tyr662Asp) c.3064T>G (p.Tyr1022Asp) c.2962T>G (p.Tyr988Asp) c.2236T>G (p.Tyr746Asp) | |
| 12 | g.21844909A>G | CA384119048 | ABCC9 | c.3103T>C (p.Tyr1035His) n.680T>C c.*2201T>C (n.*2201T>C) n.2604T>C c.3052T>C (p.Tyr1018His) c.1984T>C (p.Tyr662His) c.3064T>C (p.Tyr1022His) c.2962T>C (p.Tyr988His) c.2236T>C (p.Tyr746His) | |
| 12 | g.21844909A>T | CA384119050 | ABCC9 | c.3103T>A (p.Tyr1035Asn) n.680T>A c.*2201T>A (n.*2201T>A) n.2604T>A c.3052T>A (p.Tyr1018Asn) c.1984T>A (p.Tyr662Asn) c.3064T>A (p.Tyr1022Asn) c.2962T>A (p.Tyr988Asn) c.2236T>A (p.Tyr746Asn) | |
| 12 | g.21844910G>A | CA478870715 | ABCC9 | c.3102C>T (p.Tyr1034=) n.679C>T c.*2200C>T (n.*2200C>T) n.2603C>T c.3051C>T (p.Tyr1017=) c.1983C>T (p.Tyr661=) c.3063C>T (p.Tyr1021=) c.2961C>T (p.Tyr987=) c.2235C>T (p.Tyr745=) | gnomAD v4 |
| 12 | g.21844910G>C | CA384119051 | ABCC9 | c.3102C>G (p.Tyr1034Ter) n.679C>G c.*2200C>G (n.*2200C>G) n.2603C>G c.3051C>G (p.Tyr1017Ter) c.1983C>G (p.Tyr661Ter) c.3063C>G (p.Tyr1021Ter) c.2961C>G (p.Tyr987Ter) c.2235C>G (p.Tyr745Ter) | |
| 12 | g.21844910G>T | CA384119052 | ABCC9 | c.3102C>A (p.Tyr1034Ter) n.679C>A c.*2200C>A (n.*2200C>A) n.2603C>A c.3051C>A (p.Tyr1017Ter) c.1983C>A (p.Tyr661Ter) c.3063C>A (p.Tyr1021Ter) c.2961C>A (p.Tyr987Ter) c.2235C>A (p.Tyr745Ter) | |
| 12 | g.21844911T>A | CA384119053 | ABCC9 | c.3101A>T (p.Tyr1034Phe) n.678A>T c.*2199A>T (n.*2199A>T) n.2602A>T c.3050A>T (p.Tyr1017Phe) c.1982A>T (p.Tyr661Phe) c.3062A>T (p.Tyr1021Phe) c.2960A>T (p.Tyr987Phe) c.2234A>T (p.Tyr745Phe) | |
| 12 | g.21844911T>C | CA384119055 | ABCC9 | c.3101A>G (p.Tyr1034Cys) n.678A>G c.*2199A>G (n.*2199A>G) n.2602A>G c.3050A>G (p.Tyr1017Cys) c.1982A>G (p.Tyr661Cys) c.3062A>G (p.Tyr1021Cys) c.2960A>G (p.Tyr987Cys) c.2234A>G (p.Tyr745Cys) | |
| 12 | g.21844911T>G | CA384119056 | ABCC9 | c.3101A>C (p.Tyr1034Ser) n.678A>C c.*2199A>C (n.*2199A>C) n.2602A>C c.3050A>C (p.Tyr1017Ser) c.1982A>C (p.Tyr661Ser) c.3062A>C (p.Tyr1021Ser) c.2960A>C (p.Tyr987Ser) c.2234A>C (p.Tyr745Ser) | |
| 12 | g.21844911_21844912insCTCTA | CA2617930649 | ABCC9 | c.3100_3101insTAGAG (p.Tyr1034LeufsTer26) n.677_678insTAGAG c.*2198_*2199insTAGAG (n.*2198_*2199insTAGAG) n.2601_2602insTAGAG c.3049_3050insTAGAG (p.Tyr1017LeufsTer26) c.1981_1982insTAGAG (p.Tyr661LeufsTer26) c.3061_3062insTAGAG (p.Tyr1021LeufsTer26) c.2959_2960insTAGAG (p.Tyr987LeufsTer26) c.2233_2234insTAGAG (p.Tyr745LeufsTer26) | gnomAD v4 |
| 12 | g.21844912A>C | CA384119057 | ABCC9 | c.3100T>G (p.Tyr1034Asp) n.677T>G c.*2198T>G (n.*2198T>G) n.2601T>G c.3049T>G (p.Tyr1017Asp) c.1981T>G (p.Tyr661Asp) c.3061T>G (p.Tyr1021Asp) c.2959T>G (p.Tyr987Asp) c.2233T>G (p.Tyr745Asp) | |
| 12 | g.21844912A>G | CA384119058 | ABCC9 | c.3100T>C (p.Tyr1034His) n.677T>C c.*2198T>C (n.*2198T>C) n.2601T>C c.3049T>C (p.Tyr1017His) c.1981T>C (p.Tyr661His) c.3061T>C (p.Tyr1021His) c.2959T>C (p.Tyr987His) c.2233T>C (p.Tyr745His) | |
| 12 | g.21844912A>T | CA384119059 | ABCC9 | c.3100T>A (p.Tyr1034Asn) n.677T>A c.*2198T>A (n.*2198T>A) n.2601T>A c.3049T>A (p.Tyr1017Asn) c.1981T>A (p.Tyr661Asn) c.3061T>A (p.Tyr1021Asn) c.2959T>A (p.Tyr987Asn) c.2233T>A (p.Tyr745Asn) | |
| 12 | g.21844913G>A | CA478870722 | ABCC9 | c.3099C>T (p.Thr1033=) n.676C>T c.*2197C>T (n.*2197C>T) n.2600C>T c.3048C>T (p.Thr1016=) c.1980C>T (p.Thr660=) c.3060C>T (p.Thr1020=) c.2958C>T (p.Thr986=) c.2232C>T (p.Thr744=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21844913G>C | CA478870721 | ABCC9 | c.3099C>G (p.Thr1033=) n.676C>G c.*2197C>G (n.*2197C>G) n.2600C>G c.3048C>G (p.Thr1016=) c.1980C>G (p.Thr660=) c.3060C>G (p.Thr1020=) c.2958C>G (p.Thr986=) c.2232C>G (p.Thr744=) | |
| 12 | g.21844913G>T | CA478870720 | ABCC9 | c.3099C>A (p.Thr1033=) n.676C>A c.*2197C>A (n.*2197C>A) n.2600C>A c.3048C>A (p.Thr1016=) c.1980C>A (p.Thr660=) c.3060C>A (p.Thr1020=) c.2958C>A (p.Thr986=) c.2232C>A (p.Thr744=) | |
| 12 | g.21844913_21844914insTGACAATCAT | CA2617930650 | ABCC9 | c.3098_3099insATGATTGTCA (p.Tyr1034Ter) n.675_676insATGATTGTCA c.*2196_*2197insATGATTGTCA (n.*2196_*2197insATGATTGTCA) n.2599_2600insATGATTGTCA c.3047_3048insATGATTGTCA (p.Tyr1017Ter) c.1979_1980insATGATTGTCA (p.Tyr661Ter) c.3059_3060insATGATTGTCA (p.Tyr1021Ter) c.2957_2958insATGATTGTCA (p.Tyr987Ter) c.2231_2232insATGATTGTCA (p.Tyr745Ter) | gnomAD v4 |
| 12 | g.21844914G>A | CA384119063 | ABCC9 | c.3098C>T (p.Thr1033Ile) n.675C>T c.*2196C>T (n.*2196C>T) n.2599C>T c.3047C>T (p.Thr1016Ile) c.1979C>T (p.Thr660Ile) c.3059C>T (p.Thr1020Ile) c.2957C>T (p.Thr986Ile) c.2231C>T (p.Thr744Ile) | |
| 12 | g.21844914G>C | CA384119061 | ABCC9 | c.3098C>G (p.Thr1033Ser) n.675C>G c.*2196C>G (n.*2196C>G) n.2599C>G c.3047C>G (p.Thr1016Ser) c.1979C>G (p.Thr660Ser) c.3059C>G (p.Thr1020Ser) c.2957C>G (p.Thr986Ser) c.2231C>G (p.Thr744Ser) | |
| 12 | g.21844914G>T | CA384119060 | ABCC9 | c.3098C>A (p.Thr1033Asn) n.675C>A c.*2196C>A (n.*2196C>A) n.2599C>A c.3047C>A (p.Thr1016Asn) c.1979C>A (p.Thr660Asn) c.3059C>A (p.Thr1020Asn) c.2957C>A (p.Thr986Asn) c.2231C>A (p.Thr744Asn) | |
| 12 | g.21844915T>A | CA384119065 | ABCC9 | c.3097A>T (p.Thr1033Ser) n.674A>T c.*2195A>T (n.*2195A>T) n.2598A>T c.3046A>T (p.Thr1016Ser) c.1978A>T (p.Thr660Ser) c.3058A>T (p.Thr1020Ser) c.2956A>T (p.Thr986Ser) c.2230A>T (p.Thr744Ser) | |
| 12 | g.21844915T>C | CA384119070 | ABCC9 | c.3097A>G (p.Thr1033Ala) n.674A>G c.*2195A>G (n.*2195A>G) n.2598A>G c.3046A>G (p.Thr1016Ala) c.1978A>G (p.Thr660Ala) c.3058A>G (p.Thr1020Ala) c.2956A>G (p.Thr986Ala) c.2230A>G (p.Thr744Ala) | |
| 12 | g.21844915T>G | CA384119068 | ABCC9 | c.3097A>C (p.Thr1033Pro) n.674A>C c.*2195A>C (n.*2195A>C) n.2598A>C c.3046A>C (p.Thr1016Pro) c.1978A>C (p.Thr660Pro) c.3058A>C (p.Thr1020Pro) c.2956A>C (p.Thr986Pro) c.2230A>C (p.Thr744Pro) | |
| 12 | g.21844916C>A | CA384119071 | ABCC9 | c.3097-1G>T (n.3097-1G>T) n.674-1G>T c.*2195-1G>T (n.*2195-1G>T) n.2598-1G>T c.3046-1G>T (n.3046-1G>T) c.1978-1G>T (n.1978-1G>T) c.3058-1G>T (n.3058-1G>T) c.2956-1G>T (n.2956-1G>T) c.2230-1G>T (n.2230-1G>T) | |
| 12 | g.21844916C>G | CA384119073 | ABCC9 | c.3097-1G>C (n.3097-1G>C) n.674-1G>C c.*2195-1G>C (n.*2195-1G>C) n.2598-1G>C c.3046-1G>C (n.3046-1G>C) c.1978-1G>C (n.1978-1G>C) c.3058-1G>C (n.3058-1G>C) c.2956-1G>C (n.2956-1G>C) c.2230-1G>C (n.2230-1G>C) | |
| 12 | g.21844916C>T | CA384119075 | ABCC9 | c.3097-1G>A (n.3097-1G>A) n.674-1G>A c.*2195-1G>A (n.*2195-1G>A) n.2598-1G>A c.3046-1G>A (n.3046-1G>A) c.1978-1G>A (n.1978-1G>A) c.3058-1G>A (n.3058-1G>A) c.2956-1G>A (n.2956-1G>A) c.2230-1G>A (n.2230-1G>A) | |
| 12 | g.21844917T>A | CA384119077 | ABCC9 | c.3097-2A>T (n.3097-2A>T) n.674-2A>T c.*2195-2A>T (n.*2195-2A>T) n.2598-2A>T c.3046-2A>T (n.3046-2A>T) c.1978-2A>T (n.1978-2A>T) c.3058-2A>T (n.3058-2A>T) c.2956-2A>T (n.2956-2A>T) c.2230-2A>T (n.2230-2A>T) | |
| 12 | g.21844917T>C | CA384119084 | ABCC9 | c.3097-2A>G (n.3097-2A>G) n.674-2A>G c.*2195-2A>G (n.*2195-2A>G) n.2598-2A>G c.3046-2A>G (n.3046-2A>G) c.1978-2A>G (n.1978-2A>G) c.3058-2A>G (n.3058-2A>G) c.2956-2A>G (n.2956-2A>G) c.2230-2A>G (n.2230-2A>G) | |
| 12 | g.21844917T>G | CA384119085 | ABCC9 | c.3097-2A>C (n.3097-2A>C) n.674-2A>C c.*2195-2A>C (n.*2195-2A>C) n.2598-2A>C c.3046-2A>C (n.3046-2A>C) c.1978-2A>C (n.1978-2A>C) c.3058-2A>C (n.3058-2A>C) c.2956-2A>C (n.2956-2A>C) c.2230-2A>C (n.2230-2A>C) | |
| 12 | g.21844918A>T | CA2617930653 | ABCC9 | c.3097-3T>A (n.3097-3T>A) n.674-3T>A c.*2195-3T>A (n.*2195-3T>A) n.2598-3T>A c.3046-3T>A (n.3046-3T>A) c.1978-3T>A (n.1978-3T>A) c.3058-3T>A (n.3058-3T>A) c.2956-3T>A (n.2956-3T>A) c.2230-3T>A (n.2230-3T>A) | gnomAD v4 |
| 12 | g.21844919A>G | CA2617930656 | ABCC9 | c.3097-4T>C (n.3097-4T>C) n.674-4T>C c.*2195-4T>C (n.*2195-4T>C) n.2598-4T>C c.3046-4T>C (n.3046-4T>C) c.1978-4T>C (n.1978-4T>C) c.3058-4T>C (n.3058-4T>C) c.2956-4T>C (n.2956-4T>C) c.2230-4T>C (n.2230-4T>C) | gnomAD v4 |
| 12 | g.21844923G>C | CA6481195 | ABCC9 | c.3097-8C>G (n.3097-8C>G) n.674-8C>G c.*2195-8C>G (n.*2195-8C>G) n.2598-8C>G c.3046-8C>G (n.3046-8C>G) c.1978-8C>G (n.1978-8C>G) c.3058-8C>G (n.3058-8C>G) c.2956-8C>G (n.2956-8C>G) c.2230-8C>G (n.2230-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844923G= | CA2021314671 | ABCC9 | c.3097-8C= (n.3097-8C=) n.674-8C= c.*2195-8C= (n.*2195-8C=) n.2598-8C= c.3046-8C= (n.3046-8C=) c.1978-8C= (n.1978-8C=) c.3058-8C= (n.3058-8C=) c.2956-8C= (n.2956-8C=) c.2230-8C= (n.2230-8C=) | |
| 12 | g.21844924C>A | CA2725993159 | ABCC9 | c.3097-9G>T (n.3097-9G>T) n.674-9G>T c.*2195-9G>T (n.*2195-9G>T) n.2598-9G>T c.3046-9G>T (n.3046-9G>T) c.1978-9G>T (n.1978-9G>T) c.3058-9G>T (n.3058-9G>T) c.2956-9G>T (n.2956-9G>T) c.2230-9G>T (n.2230-9G>T) | dbSNP |
| 12 | g.21844927C= | CA2021314673 | ABCC9 | c.3097-12G= (n.3097-12G=) n.674-12G= c.*2195-12G= (n.*2195-12G=) n.2598-12G= c.3046-12G= (n.3046-12G=) c.1978-12G= (n.1978-12G=) c.3058-12G= (n.3058-12G=) c.2956-12G= (n.2956-12G=) c.2230-12G= (n.2230-12G=) | |
| 12 | g.21844927C>G | CA945519193 | ABCC9 | c.3097-12G>C (n.3097-12G>C) n.674-12G>C c.*2195-12G>C (n.*2195-12G>C) n.2598-12G>C c.3046-12G>C (n.3046-12G>C) c.1978-12G>C (n.1978-12G>C) c.3058-12G>C (n.3058-12G>C) c.2956-12G>C (n.2956-12G>C) c.2230-12G>C (n.2230-12G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844927C>T | CA686428677 | ABCC9 | c.3097-12G>A (n.3097-12G>A) n.674-12G>A c.*2195-12G>A (n.*2195-12G>A) n.2598-12G>A c.3046-12G>A (n.3046-12G>A) c.1978-12G>A (n.1978-12G>A) c.3058-12G>A (n.3058-12G>A) c.2956-12G>A (n.2956-12G>A) c.2230-12G>A (n.2230-12G>A) | dbSNP gnomAD v4 |
| 12 | g.21844928C>A | CA233594577 | ABCC9 | c.3097-13G>T (n.3097-13G>T) n.674-13G>T c.*2195-13G>T (n.*2195-13G>T) n.2598-13G>T c.3046-13G>T (n.3046-13G>T) c.1978-13G>T (n.1978-13G>T) c.3058-13G>T (n.3058-13G>T) c.2956-13G>T (n.2956-13G>T) c.2230-13G>T (n.2230-13G>T) | dbSNP |
| 12 | g.21844928C= | CA2021314674 | ABCC9 | c.3097-13G= (n.3097-13G=) n.674-13G= c.*2195-13G= (n.*2195-13G=) n.2598-13G= c.3046-13G= (n.3046-13G=) c.1978-13G= (n.1978-13G=) c.3058-13G= (n.3058-13G=) c.2956-13G= (n.2956-13G=) c.2230-13G= (n.2230-13G=) | |
| 12 | g.21844929A>G | CA2617930659 | ABCC9 | c.3097-14T>C (n.3097-14T>C) n.674-14T>C c.*2195-14T>C (n.*2195-14T>C) n.2598-14T>C c.3046-14T>C (n.3046-14T>C) c.1978-14T>C (n.1978-14T>C) c.3058-14T>C (n.3058-14T>C) c.2956-14T>C (n.2956-14T>C) c.2230-14T>C (n.2230-14T>C) | gnomAD v4 |
| 12 | g.21844930A= | CA2021314678 | ABCC9 | c.3097-15T= (n.3097-15T=) n.674-15T= c.*2195-15T= (n.*2195-15T=) n.2598-15T= c.3046-15T= (n.3046-15T=) c.1978-15T= (n.1978-15T=) c.3058-15T= (n.3058-15T=) c.2956-15T= (n.2956-15T=) c.2230-15T= (n.2230-15T=) | |
| 12 | g.21844930A>G | CA603664282 | ABCC9 | c.3097-15T>C (n.3097-15T>C) n.674-15T>C c.*2195-15T>C (n.*2195-15T>C) n.2598-15T>C c.3046-15T>C (n.3046-15T>C) c.1978-15T>C (n.1978-15T>C) c.3058-15T>C (n.3058-15T>C) c.2956-15T>C (n.2956-15T>C) c.2230-15T>C (n.2230-15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844930A>T | CA16606239 | ABCC9 | c.3097-15T>A (n.3097-15T>A) n.674-15T>A c.*2195-15T>A (n.*2195-15T>A) n.2598-15T>A c.3046-15T>A (n.3046-15T>A) c.1978-15T>A (n.1978-15T>A) c.3058-15T>A (n.3058-15T>A) c.2956-15T>A (n.2956-15T>A) c.2230-15T>A (n.2230-15T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844933C>T | CA2794816769 | ABCC9 | c.3097-18G>A (n.3097-18G>A) n.674-18G>A c.*2195-18G>A (n.*2195-18G>A) n.2598-18G>A c.3046-18G>A (n.3046-18G>A) c.1978-18G>A (n.1978-18G>A) c.3058-18G>A (n.3058-18G>A) c.2956-18G>A (n.2956-18G>A) c.2230-18G>A (n.2230-18G>A) | |
| 12 | g.21844933_21844934delinsCA | CA2021314680 | ABCC9 | c.3097-19_3097-18delinsTG (n.3097-19_3097-18delinsTG) n.674-19_674-18delinsTG c.*2195-19_*2195-18delinsTG (n.*2195-19_*2195-18delinsTG) n.2598-19_2598-18delinsTG c.3046-19_3046-18delinsTG (n.3046-19_3046-18delinsTG) c.1978-19_1978-18delinsTG (n.1978-19_1978-18delinsTG) c.3058-19_3058-18delinsTG (n.3058-19_3058-18delinsTG) c.2956-19_2956-18delinsTG (n.2956-19_2956-18delinsTG) c.2230-19_2230-18delinsTG (n.2230-19_2230-18delinsTG) | |
| 12 | g.21844934A= | CA2021314681 | ABCC9 | c.3097-19T= (n.3097-19T=) n.674-19T= c.*2195-19T= (n.*2195-19T=) n.2598-19T= c.3046-19T= (n.3046-19T=) c.1978-19T= (n.1978-19T=) c.3058-19T= (n.3058-19T=) c.2956-19T= (n.2956-19T=) c.2230-19T= (n.2230-19T=) | |
| 12 | g.21844934A>G | CA6481197 | ABCC9 | c.3097-19T>C (n.3097-19T>C) n.674-19T>C c.*2195-19T>C (n.*2195-19T>C) n.2598-19T>C c.3046-19T>C (n.3046-19T>C) c.1978-19T>C (n.1978-19T>C) c.3058-19T>C (n.3058-19T>C) c.2956-19T>C (n.2956-19T>C) c.2230-19T>C (n.2230-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844938dup | CA6481196 | ABCC9 | c.3097-19dup (n.3097-19dup) n.674-19dup c.*2195-19dup (n.*2195-19dup) n.2598-19dup c.3046-19dup (n.3046-19dup) c.1978-19dup (n.1978-19dup) c.3058-19dup (n.3058-19dup) c.2956-19dup (n.2956-19dup) c.2230-19dup (n.2230-19dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844938del | CA945519212 | ABCC9 | c.3097-19del (n.3097-19del) n.674-19del c.*2195-19del (n.*2195-19del) n.2598-19del c.3046-19del (n.3046-19del) c.1978-19del (n.1978-19del) c.3058-19del (n.3058-19del) c.2956-19del (n.2956-19del) c.2230-19del (n.2230-19del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844935A>G | CA2617930661 | ABCC9 | c.3097-20T>C (n.3097-20T>C) n.674-20T>C c.*2195-20T>C (n.*2195-20T>C) n.2598-20T>C c.3046-20T>C (n.3046-20T>C) c.1978-20T>C (n.1978-20T>C) c.3058-20T>C (n.3058-20T>C) c.2956-20T>C (n.2956-20T>C) c.2230-20T>C (n.2230-20T>C) | gnomAD v4 |
| 12 | g.21844936A= | CA2021314683 | ABCC9 | c.3097-21T= (n.3097-21T=) n.674-21T= c.*2195-21T= (n.*2195-21T=) n.2598-21T= c.3046-21T= (n.3046-21T=) c.1978-21T= (n.1978-21T=) c.3058-21T= (n.3058-21T=) c.2956-21T= (n.2956-21T=) c.2230-21T= (n.2230-21T=) | |
| 12 | g.21844936A>T | CA945519216 | ABCC9 | c.3097-21T>A (n.3097-21T>A) n.674-21T>A c.*2195-21T>A (n.*2195-21T>A) n.2598-21T>A c.3046-21T>A (n.3046-21T>A) c.1978-21T>A (n.1978-21T>A) c.3058-21T>A (n.3058-21T>A) c.2956-21T>A (n.2956-21T>A) c.2230-21T>A (n.2230-21T>A) | dbSNP gnomAD v3 gnomAD v4 |