Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.168932442G>A | CA1951095 | ABCB11 | c.1465C>T (p.Arg489Cys) c.3148C>T (p.Arg1050Cys) c.1837C>T (n.1837C>T) c.3190C>T (p.Arg1064Cys) c.3250C>T (p.Arg1084Cys) c.1474C>T (p.Arg492Cys) c.2479C>T (p.Arg827Cys) c.1933C>T (p.Arg645Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.168932442G>C | CA349122440 | ABCB11 | c.1465C>G (p.Arg489Gly) c.3148C>G (p.Arg1050Gly) c.1837C>G (n.1837C>G) c.3190C>G (p.Arg1064Gly) c.3250C>G (p.Arg1084Gly) c.1474C>G (p.Arg492Gly) c.2479C>G (p.Arg827Gly) c.1933C>G (p.Arg645Gly) | |
2 | g.168932442G= | CA1306208147 | ABCB11 | c.1465C= (p.Arg489=) c.3148C= (p.Arg1050=) c.1837C= (n.1837C=) c.3190C= (p.Arg1064=) c.3250C= (p.Arg1084=) c.1474C= (p.Arg492=) c.2479C= (p.Arg827=) c.1933C= (p.Arg645=) | |
2 | g.168932442G>T | CA349122441 | ABCB11 | c.1465C>A (p.Arg489Ser) c.3148C>A (p.Arg1050Ser) c.1837C>A (n.1837C>A) c.3190C>A (p.Arg1064Ser) c.3250C>A (p.Arg1084Ser) c.1474C>A (p.Arg492Ser) c.2479C>A (p.Arg827Ser) c.1933C>A (p.Arg645Ser) | |
2 | g.168932443T>A | CA429913121 | ABCB11 | c.1464A>T (p.Ala488=) c.3147A>T (p.Ala1049=) c.1836A>T (n.1836A>T) c.3189A>T (p.Ala1063=) c.3249A>T (p.Ala1083=) c.1473A>T (p.Ala491=) c.2478A>T (p.Ala826=) c.1932A>T (p.Ala644=) | |
2 | g.168932443T>C | CA429913123 | ABCB11 | c.1464A>G (p.Ala488=) c.3147A>G (p.Ala1049=) c.1836A>G (n.1836A>G) c.3189A>G (p.Ala1063=) c.3249A>G (p.Ala1083=) c.1473A>G (p.Ala491=) c.2478A>G (p.Ala826=) c.1932A>G (p.Ala644=) | ClinVar dbSNP |
2 | g.168932443T>G | CA429913122 | ABCB11 | c.1464A>C (p.Ala488=) c.3147A>C (p.Ala1049=) c.1836A>C (n.1836A>C) c.3189A>C (p.Ala1063=) c.3249A>C (p.Ala1083=) c.1473A>C (p.Ala491=) c.2478A>C (p.Ala826=) c.1932A>C (p.Ala644=) | |
2 | g.168932444G>A | CA349122443 | ABCB11 | c.1463C>T (p.Ala488Val) c.3146C>T (p.Ala1049Val) c.1835C>T (n.1835C>T) c.3188C>T (p.Ala1063Val) c.3248C>T (p.Ala1083Val) c.1472C>T (p.Ala491Val) c.2477C>T (p.Ala826Val) c.1931C>T (p.Ala644Val) | |
2 | g.168932444G>C | CA349122444 | ABCB11 | c.1463C>G (p.Ala488Gly) c.3146C>G (p.Ala1049Gly) c.1835C>G (n.1835C>G) c.3188C>G (p.Ala1063Gly) c.3248C>G (p.Ala1083Gly) c.1472C>G (p.Ala491Gly) c.2477C>G (p.Ala826Gly) c.1931C>G (p.Ala644Gly) | |
2 | g.168932444G>T | CA349122442 | ABCB11 | c.1463C>A (p.Ala488Glu) c.3146C>A (p.Ala1049Glu) c.1835C>A (n.1835C>A) c.3188C>A (p.Ala1063Glu) c.3248C>A (p.Ala1083Glu) c.1472C>A (p.Ala491Glu) c.2477C>A (p.Ala826Glu) c.1931C>A (p.Ala644Glu) | |
2 | g.168932445C>A | CA349122446 | ABCB11 | c.1462G>T (p.Ala488Ser) c.3145G>T (p.Ala1049Ser) c.1834G>T (n.1834G>T) c.3187G>T (p.Ala1063Ser) c.3247G>T (p.Ala1083Ser) c.1471G>T (p.Ala491Ser) c.2476G>T (p.Ala826Ser) c.1930G>T (p.Ala644Ser) | |
2 | g.168932445C= | CA1306208148 | ABCB11 | c.1462G= (p.Ala488=) c.3145G= (p.Ala1049=) c.1834G= (n.1834G=) c.3187G= (p.Ala1063=) c.3247G= (p.Ala1083=) c.1471G= (p.Ala491=) c.2476G= (p.Ala826=) c.1930G= (p.Ala644=) | |
2 | g.168932445C>G | CA349122445 | ABCB11 | c.1462G>C (p.Ala488Pro) c.3145G>C (p.Ala1049Pro) c.1834G>C (n.1834G>C) c.3187G>C (p.Ala1063Pro) c.3247G>C (p.Ala1083Pro) c.1471G>C (p.Ala491Pro) c.2476G>C (p.Ala826Pro) c.1930G>C (p.Ala644Pro) | |
2 | g.168932445C>T | CA349122447 | ABCB11 | c.1462G>A (p.Ala488Thr) c.3145G>A (p.Ala1049Thr) c.1834G>A (n.1834G>A) c.3187G>A (p.Ala1063Thr) c.3247G>A (p.Ala1083Thr) c.1471G>A (p.Ala491Thr) c.2476G>A (p.Ala826Thr) c.1930G>A (p.Ala644Thr) | ClinVar dbSNP |
2 | g.168932446A>C | CA429913124 | ABCB11 | c.1461T>G (p.Ala487=) c.3144T>G (p.Ala1048=) c.1833T>G (n.1833T>G) c.3186T>G (p.Ala1062=) c.3246T>G (p.Ala1082=) c.1470T>G (p.Ala490=) c.2475T>G (p.Ala825=) c.1929T>G (p.Ala643=) | |
2 | g.168932446A>G | CA429913125 | ABCB11 | c.1461T>C (p.Ala487=) c.3144T>C (p.Ala1048=) c.1833T>C (n.1833T>C) c.3186T>C (p.Ala1062=) c.3246T>C (p.Ala1082=) c.1470T>C (p.Ala490=) c.2475T>C (p.Ala825=) c.1929T>C (p.Ala643=) | |
2 | g.168932446A>T | CA429913126 | ABCB11 | c.1461T>A (p.Ala487=) c.3144T>A (p.Ala1048=) c.1833T>A (n.1833T>A) c.3186T>A (p.Ala1062=) c.3246T>A (p.Ala1082=) c.1470T>A (p.Ala490=) c.2475T>A (p.Ala825=) c.1929T>A (p.Ala643=) | |
2 | g.168932447G>A | CA349122448 | ABCB11 | c.1460C>T (p.Ala487Val) c.3143C>T (p.Ala1048Val) c.1832C>T (n.1832C>T) c.3185C>T (p.Ala1062Val) c.3245C>T (p.Ala1082Val) c.1469C>T (p.Ala490Val) c.2474C>T (p.Ala825Val) c.1928C>T (p.Ala643Val) | |
2 | g.168932447G>C | CA349122450 | ABCB11 | c.1460C>G (p.Ala487Gly) c.3143C>G (p.Ala1048Gly) c.1832C>G (n.1832C>G) c.3185C>G (p.Ala1062Gly) c.3245C>G (p.Ala1082Gly) c.1469C>G (p.Ala490Gly) c.2474C>G (p.Ala825Gly) c.1928C>G (p.Ala643Gly) | |
2 | g.168932447G>T | CA349122449 | ABCB11 | c.1460C>A (p.Ala487Asp) c.3143C>A (p.Ala1048Asp) c.1832C>A (n.1832C>A) c.3185C>A (p.Ala1062Asp) c.3245C>A (p.Ala1082Asp) c.1469C>A (p.Ala490Asp) c.2474C>A (p.Ala825Asp) c.1928C>A (p.Ala643Asp) | |
2 | g.168932448C>A | CA349122451 | ABCB11 | c.1459G>T (p.Ala487Ser) c.3142G>T (p.Ala1048Ser) c.1831G>T (n.1831G>T) c.3184G>T (p.Ala1062Ser) c.3244G>T (p.Ala1082Ser) c.1468G>T (p.Ala490Ser) c.2473G>T (p.Ala825Ser) c.1927G>T (p.Ala643Ser) | dbSNP |
2 | g.168932448C= | CA1306208149 | ABCB11 | c.1459G= (p.Ala487=) c.3142G= (p.Ala1048=) c.1831G= (n.1831G=) c.3184G= (p.Ala1062=) c.3244G= (p.Ala1082=) c.1468G= (p.Ala490=) c.2473G= (p.Ala825=) c.1927G= (p.Ala643=) | |
2 | g.168932448C>G | CA349122453 | ABCB11 | c.1459G>C (p.Ala487Pro) c.3142G>C (p.Ala1048Pro) c.1831G>C (n.1831G>C) c.3184G>C (p.Ala1062Pro) c.3244G>C (p.Ala1082Pro) c.1468G>C (p.Ala490Pro) c.2473G>C (p.Ala825Pro) c.1927G>C (p.Ala643Pro) | gnomAD v4 |
2 | g.168932448C>T | CA349122452 | ABCB11 | c.1459G>A (p.Ala487Thr) c.3142G>A (p.Ala1048Thr) c.1831G>A (n.1831G>A) c.3184G>A (p.Ala1062Thr) c.3244G>A (p.Ala1082Thr) c.1468G>A (p.Ala490Thr) c.2473G>A (p.Ala825Thr) c.1927G>A (p.Ala643Thr) | |
2 | g.168932449T>A | CA429913127 | ABCB11 | c.1458A>T (p.Ser486=) c.3141A>T (p.Ser1047=) c.1830A>T (n.1830A>T) c.3183A>T (p.Ser1061=) c.3243A>T (p.Ser1081=) c.1467A>T (p.Ser489=) c.2472A>T (p.Ser824=) c.1926A>T (p.Ser642=) | |
2 | g.168932449T>C | CA429913128 | ABCB11 | c.1458A>G (p.Ser486=) c.3141A>G (p.Ser1047=) c.1830A>G (n.1830A>G) c.3183A>G (p.Ser1061=) c.3243A>G (p.Ser1081=) c.1467A>G (p.Ser489=) c.2472A>G (p.Ser824=) c.1926A>G (p.Ser642=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168932449T>G | CA429913129 | ABCB11 | c.1458A>C (p.Ser486=) c.3141A>C (p.Ser1047=) c.1830A>C (n.1830A>C) c.3183A>C (p.Ser1061=) c.3243A>C (p.Ser1081=) c.1467A>C (p.Ser489=) c.2472A>C (p.Ser824=) c.1926A>C (p.Ser642=) | ClinVar dbSNP gnomAD v4 |
2 | g.168932449T= | CA1306208150 | ABCB11 | c.1458A= (p.Ser486=) c.3141A= (p.Ser1047=) c.1830A= (n.1830A=) c.3183A= (p.Ser1061=) c.3243A= (p.Ser1081=) c.1467A= (p.Ser489=) c.2472A= (p.Ser824=) c.1926A= (p.Ser642=) | |
2 | g.168932450G>A | CA349122454 | ABCB11 | c.1457C>T (p.Ser486Leu) c.3140C>T (p.Ser1047Leu) c.1829C>T (n.1829C>T) c.3182C>T (p.Ser1061Leu) c.3242C>T (p.Ser1081Leu) c.1466C>T (p.Ser489Leu) c.2471C>T (p.Ser824Leu) c.1925C>T (p.Ser642Leu) | dbSNP gnomAD v2 |
2 | g.168932450G>C | CA349122455 | ABCB11 | c.1457C>G (p.Ser486Ter) c.3140C>G (p.Ser1047Ter) c.1829C>G (n.1829C>G) c.3182C>G (p.Ser1061Ter) c.3242C>G (p.Ser1081Ter) c.1466C>G (p.Ser489Ter) c.2471C>G (p.Ser824Ter) c.1925C>G (p.Ser642Ter) | |
2 | g.168932450G= | CA1306208151 | ABCB11 | c.1457C= (p.Ser486=) c.3140C= (p.Ser1047=) c.1829C= (n.1829C=) c.3182C= (p.Ser1061=) c.3242C= (p.Ser1081=) c.1466C= (p.Ser489=) c.2471C= (p.Ser824=) c.1925C= (p.Ser642=) | |
2 | g.168932450G>T | CA349122456 | ABCB11 | c.1457C>A (p.Ser486Ter) c.3140C>A (p.Ser1047Ter) c.1829C>A (n.1829C>A) c.3182C>A (p.Ser1061Ter) c.3242C>A (p.Ser1081Ter) c.1466C>A (p.Ser489Ter) c.2471C>A (p.Ser824Ter) c.1925C>A (p.Ser642Ter) | |
2 | g.168932451A= | CA1306208152 | ABCB11 | c.1456T= (p.Ser486=) c.3139T= (p.Ser1047=) c.1828T= (n.1828T=) c.3181T= (p.Ser1061=) c.3241T= (p.Ser1081=) c.1465T= (p.Ser489=) c.2470T= (p.Ser824=) c.1924T= (p.Ser642=) | |
2 | g.168932451A>C | CA349122457 | ABCB11 | c.1456T>G (p.Ser486Ala) c.3139T>G (p.Ser1047Ala) c.1828T>G (n.1828T>G) c.3181T>G (p.Ser1061Ala) c.3241T>G (p.Ser1081Ala) c.1465T>G (p.Ser489Ala) c.2470T>G (p.Ser824Ala) c.1924T>G (p.Ser642Ala) | |
2 | g.168932451A>G | CA349122458 | ABCB11 | c.1456T>C (p.Ser486Pro) c.3139T>C (p.Ser1047Pro) c.1828T>C (n.1828T>C) c.3181T>C (p.Ser1061Pro) c.3241T>C (p.Ser1081Pro) c.1465T>C (p.Ser489Pro) c.2470T>C (p.Ser824Pro) c.1924T>C (p.Ser642Pro) | |
2 | g.168932451A>T | CA349122459 | ABCB11 | c.1456T>A (p.Ser486Thr) c.3139T>A (p.Ser1047Thr) c.1828T>A (n.1828T>A) c.3181T>A (p.Ser1061Thr) c.3241T>A (p.Ser1081Thr) c.1465T>A (p.Ser489Thr) c.2470T>A (p.Ser824Thr) c.1924T>A (p.Ser642Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168932452T>A | CA429913131 | ABCB11 | c.1455A>T (p.Ile485=) c.3138A>T (p.Ile1046=) c.1827A>T (n.1827A>T) c.3180A>T (p.Ile1060=) c.3240A>T (p.Ile1080=) c.1464A>T (p.Ile488=) c.2469A>T (p.Ile823=) c.1923A>T (p.Ile641=) | |
2 | g.168932452T>C | CA349122460 | ABCB11 | c.1455A>G (p.Ile485Met) c.3138A>G (p.Ile1046Met) c.1827A>G (n.1827A>G) c.3180A>G (p.Ile1060Met) c.3240A>G (p.Ile1080Met) c.1464A>G (p.Ile488Met) c.2469A>G (p.Ile823Met) c.1923A>G (p.Ile641Met) | gnomAD v4 |
2 | g.168932452T>G | CA429913130 | ABCB11 | c.1455A>C (p.Ile485=) c.3138A>C (p.Ile1046=) c.1827A>C (n.1827A>C) c.3180A>C (p.Ile1060=) c.3240A>C (p.Ile1080=) c.1464A>C (p.Ile488=) c.2469A>C (p.Ile823=) c.1923A>C (p.Ile641=) | |
2 | g.168932453A>C | CA349122463 | ABCB11 | c.1454T>G (p.Ile485Arg) c.3137T>G (p.Ile1046Arg) c.1826T>G (n.1826T>G) c.3179T>G (p.Ile1060Arg) c.3239T>G (p.Ile1080Arg) c.1463T>G (p.Ile488Arg) c.2468T>G (p.Ile823Arg) c.1922T>G (p.Ile641Arg) | |
2 | g.168932453A>G | CA349122461 | ABCB11 | c.1454T>C (p.Ile485Thr) c.3137T>C (p.Ile1046Thr) c.1826T>C (n.1826T>C) c.3179T>C (p.Ile1060Thr) c.3239T>C (p.Ile1080Thr) c.1463T>C (p.Ile488Thr) c.2468T>C (p.Ile823Thr) c.1922T>C (p.Ile641Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168932453A>T | CA349122462 | ABCB11 | c.1454T>A (p.Ile485Lys) c.3137T>A (p.Ile1046Lys) c.1826T>A (n.1826T>A) c.3179T>A (p.Ile1060Lys) c.3239T>A (p.Ile1080Lys) c.1463T>A (p.Ile488Lys) c.2468T>A (p.Ile823Lys) c.1922T>A (p.Ile641Lys) | |
2 | g.168932454T>A | CA349122464 | ABCB11 | c.1453A>T (p.Ile485Leu) c.3136A>T (p.Ile1046Leu) c.1825A>T (n.1825A>T) c.3178A>T (p.Ile1060Leu) c.3238A>T (p.Ile1080Leu) c.1462A>T (p.Ile488Leu) c.2467A>T (p.Ile823Leu) c.1921A>T (p.Ile641Leu) | ClinVar |
2 | g.168932454T>C | CA349122465 | ABCB11 | c.1453A>G (p.Ile485Val) c.3136A>G (p.Ile1046Val) c.1825A>G (n.1825A>G) c.3178A>G (p.Ile1060Val) c.3238A>G (p.Ile1080Val) c.1462A>G (p.Ile488Val) c.2467A>G (p.Ile823Val) c.1921A>G (p.Ile641Val) | |
2 | g.168932454T>G | CA349122466 | ABCB11 | c.1453A>C (p.Ile485Leu) c.3136A>C (p.Ile1046Leu) c.1825A>C (n.1825A>C) c.3178A>C (p.Ile1060Leu) c.3238A>C (p.Ile1080Leu) c.1462A>C (p.Ile488Leu) c.2467A>C (p.Ile823Leu) c.1921A>C (p.Ile641Leu) | |
2 | g.168932455T>A | CA349122467 | ABCB11 | c.1452A>T (p.Lys484Asn) c.3135A>T (p.Lys1045Asn) c.1824A>T (n.1824A>T) c.3177A>T (p.Lys1059Asn) c.3237A>T (p.Lys1079Asn) c.1461A>T (p.Lys487Asn) c.2466A>T (p.Lys822Asn) c.1920A>T (p.Lys640Asn) | |
2 | g.168932455T>C | CA429913132 | ABCB11 | c.1452A>G (p.Lys484=) c.3135A>G (p.Lys1045=) c.1824A>G (n.1824A>G) c.3177A>G (p.Lys1059=) c.3237A>G (p.Lys1079=) c.1461A>G (p.Lys487=) c.2466A>G (p.Lys822=) c.1920A>G (p.Lys640=) | |
2 | g.168932455T>G | CA349122468 | ABCB11 | c.1452A>C (p.Lys484Asn) c.3135A>C (p.Lys1045Asn) c.1824A>C (n.1824A>C) c.3177A>C (p.Lys1059Asn) c.3237A>C (p.Lys1079Asn) c.1461A>C (p.Lys487Asn) c.2466A>C (p.Lys822Asn) c.1920A>C (p.Lys640Asn) | |
2 | g.168932456T>A | CA349122471 | ABCB11 | c.1451A>T (p.Lys484Ile) c.3134A>T (p.Lys1045Ile) c.1823A>T (n.1823A>T) c.3176A>T (p.Lys1059Ile) c.3236A>T (p.Lys1079Ile) c.1460A>T (p.Lys487Ile) c.2465A>T (p.Lys822Ile) c.1919A>T (p.Lys640Ile) | |
2 | g.168932456T>C | CA349122469 | ABCB11 | c.1451A>G (p.Lys484Arg) c.3134A>G (p.Lys1045Arg) c.1823A>G (n.1823A>G) c.3176A>G (p.Lys1059Arg) c.3236A>G (p.Lys1079Arg) c.1460A>G (p.Lys487Arg) c.2465A>G (p.Lys822Arg) c.1919A>G (p.Lys640Arg) |