| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168944621G>A | CA1951246 | ABCB11 | c.911C>T (p.Ala304Val) c.2594C>T (p.Ala865Val) c.1283C>T (n.1283C>T) c.2636C>T (p.Ala879Val) c.2696C>T (p.Ala899Val) c.920C>T (p.Ala307Val) c.1925C>T (p.Ala642Val) c.1379C>T (p.Ala460Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168944621G>C | CA349126070 | ABCB11 | c.911C>G (p.Ala304Gly) c.2594C>G (p.Ala865Gly) c.1283C>G (n.1283C>G) c.2636C>G (p.Ala879Gly) c.2696C>G (p.Ala899Gly) c.920C>G (p.Ala307Gly) c.1925C>G (p.Ala642Gly) c.1379C>G (p.Ala460Gly) | |
| 2 | g.168944621G= | CA1306213471 | ABCB11 | c.911C= (p.Ala304=) c.2594C= (p.Ala865=) c.1283C= (n.1283C=) c.2636C= (p.Ala879=) c.2696C= (p.Ala899=) c.920C= (p.Ala307=) c.1925C= (p.Ala642=) c.1379C= (p.Ala460=) | |
| 2 | g.168944621G>T | CA349126071 | ABCB11 | c.911C>A (p.Ala304Asp) c.2594C>A (p.Ala865Asp) c.1283C>A (n.1283C>A) c.2636C>A (p.Ala879Asp) c.2696C>A (p.Ala899Asp) c.920C>A (p.Ala307Asp) c.1925C>A (p.Ala642Asp) c.1379C>A (p.Ala460Asp) | |
| 2 | g.168944622C>A | CA349126072 | ABCB11 | c.910G>T (p.Ala304Ser) c.2593G>T (p.Ala865Ser) c.1282G>T (n.1282G>T) c.2635G>T (p.Ala879Ser) c.2695G>T (p.Ala899Ser) c.919G>T (p.Ala307Ser) c.1924G>T (p.Ala642Ser) c.1378G>T (p.Ala460Ser) | |
| 2 | g.168944622C= | CA1306213472 | ABCB11 | c.910G= (p.Ala304=) c.2593G= (p.Ala865=) c.1282G= (n.1282G=) c.2635G= (p.Ala879=) c.2695G= (p.Ala899=) c.919G= (p.Ala307=) c.1924G= (p.Ala642=) c.1378G= (p.Ala460=) | |
| 2 | g.168944622C>G | CA349126073 | ABCB11 | c.910G>C (p.Ala304Pro) c.2593G>C (p.Ala865Pro) c.1282G>C (n.1282G>C) c.2635G>C (p.Ala879Pro) c.2695G>C (p.Ala899Pro) c.919G>C (p.Ala307Pro) c.1924G>C (p.Ala642Pro) c.1378G>C (p.Ala460Pro) | |
| 2 | g.168944622C>T | CA10612580 | ABCB11 | c.910G>A (p.Ala304Thr) c.2593G>A (p.Ala865Thr) c.1282G>A (n.1282G>A) c.2635G>A (p.Ala879Thr) c.2695G>A (p.Ala899Thr) c.919G>A (p.Ala307Thr) c.1924G>A (p.Ala642Thr) c.1378G>A (p.Ala460Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.168944623A= | CA1306213473 | ABCB11 | c.909T= (p.Asp303=) c.2592T= (p.Asp864=) c.1281T= (n.1281T=) c.2634T= (p.Asp878=) c.2694T= (p.Asp898=) c.918T= (p.Asp306=) c.1923T= (p.Asp641=) c.1377T= (p.Asp459=) | |
| 2 | g.168944623A>C | CA349126074 | ABCB11 | c.909T>G (p.Asp303Glu) c.2592T>G (p.Asp864Glu) c.1281T>G (n.1281T>G) c.2634T>G (p.Asp878Glu) c.2694T>G (p.Asp898Glu) c.918T>G (p.Asp306Glu) c.1923T>G (p.Asp641Glu) c.1377T>G (p.Asp459Glu) | |
| 2 | g.168944623A>G | CA1951247 | ABCB11 | c.909T>C (p.Asp303=) c.2592T>C (p.Asp864=) c.1281T>C (n.1281T>C) c.2634T>C (p.Asp878=) c.2694T>C (p.Asp898=) c.918T>C (p.Asp306=) c.1923T>C (p.Asp641=) c.1377T>C (p.Asp459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.168944623A>T | CA349126077 | ABCB11 | c.909T>A (p.Asp303Glu) c.2592T>A (p.Asp864Glu) c.1281T>A (n.1281T>A) c.2634T>A (p.Asp878Glu) c.2694T>A (p.Asp898Glu) c.918T>A (p.Asp306Glu) c.1923T>A (p.Asp641Glu) c.1377T>A (p.Asp459Glu) | |
| 2 | g.168944624T>A | CA349126078 | ABCB11 | c.908A>T (p.Asp303Val) c.2591A>T (p.Asp864Val) c.1280A>T (n.1280A>T) c.2633A>T (p.Asp878Val) c.2693A>T (p.Asp898Val) c.917A>T (p.Asp306Val) c.1922A>T (p.Asp641Val) c.1376A>T (p.Asp459Val) | dbSNP gnomAD v4 |
| 2 | g.168944624T>C | CA349126081 | ABCB11 | c.908A>G (p.Asp303Gly) c.2591A>G (p.Asp864Gly) c.1280A>G (n.1280A>G) c.2633A>G (p.Asp878Gly) c.2693A>G (p.Asp898Gly) c.917A>G (p.Asp306Gly) c.1922A>G (p.Asp641Gly) c.1376A>G (p.Asp459Gly) | |
| 2 | g.168944624T>G | CA349126082 | ABCB11 | c.908A>C (p.Asp303Ala) c.2591A>C (p.Asp864Ala) c.1280A>C (n.1280A>C) c.2633A>C (p.Asp878Ala) c.2693A>C (p.Asp898Ala) c.917A>C (p.Asp306Ala) c.1922A>C (p.Asp641Ala) c.1376A>C (p.Asp459Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.168944624T= | CA1306213474 | ABCB11 | c.908A= (p.Asp303=) c.2591A= (p.Asp864=) c.1280A= (n.1280A=) c.2633A= (p.Asp878=) c.2693A= (p.Asp898=) c.917A= (p.Asp306=) c.1922A= (p.Asp641=) c.1376A= (p.Asp459=) | |
| 2 | g.168944625C>A | CA349126084 | ABCB11 | c.907G>T (p.Asp303Tyr) c.2590G>T (p.Asp864Tyr) c.1279G>T (n.1279G>T) c.2632G>T (p.Asp878Tyr) c.2692G>T (p.Asp898Tyr) c.916G>T (p.Asp306Tyr) c.1921G>T (p.Asp641Tyr) c.1375G>T (p.Asp459Tyr) | COSMIC COSMIC |
| 2 | g.168944625C>G | CA349126099 | ABCB11 | c.907G>C (p.Asp303His) c.2590G>C (p.Asp864His) c.1279G>C (n.1279G>C) c.2632G>C (p.Asp878His) c.2692G>C (p.Asp898His) c.916G>C (p.Asp306His) c.1921G>C (p.Asp641His) c.1375G>C (p.Asp459His) | gnomAD v4 |
| 2 | g.168944625C>T | CA349126098 | ABCB11 | c.907G>A (p.Asp303Asn) c.2590G>A (p.Asp864Asn) c.1279G>A (n.1279G>A) c.2632G>A (p.Asp878Asn) c.2692G>A (p.Asp898Asn) c.916G>A (p.Asp306Asn) c.1921G>A (p.Asp641Asn) c.1375G>A (p.Asp459Asn) | |
| 2 | g.168944626T>A | CA429985192 | ABCB11 | c.906A>T (p.Thr302=) c.2589A>T (p.Thr863=) c.1278A>T (n.1278A>T) c.2631A>T (p.Thr877=) c.2691A>T (p.Thr897=) c.915A>T (p.Thr305=) c.1920A>T (p.Thr640=) c.1374A>T (p.Thr458=) | |
| 2 | g.168944626T>C | CA429985190 | ABCB11 | c.906A>G (p.Thr302=) c.2589A>G (p.Thr863=) c.1278A>G (n.1278A>G) c.2631A>G (p.Thr877=) c.2691A>G (p.Thr897=) c.915A>G (p.Thr305=) c.1920A>G (p.Thr640=) c.1374A>G (p.Thr458=) | gnomAD v4 |
| 2 | g.168944626T>G | CA429985191 | ABCB11 | c.906A>C (p.Thr302=) c.2589A>C (p.Thr863=) c.1278A>C (n.1278A>C) c.2631A>C (p.Thr877=) c.2691A>C (p.Thr897=) c.915A>C (p.Thr305=) c.1920A>C (p.Thr640=) c.1374A>C (p.Thr458=) | |
| 2 | g.168944627G>A | CA349126102 | ABCB11 | c.905C>T (p.Thr302Ile) c.2588C>T (p.Thr863Ile) c.1277C>T (n.1277C>T) c.2630C>T (p.Thr877Ile) c.2690C>T (p.Thr897Ile) c.914C>T (p.Thr305Ile) c.1919C>T (p.Thr640Ile) c.1373C>T (p.Thr458Ile) | |
| 2 | g.168944627G>C | CA349126105 | ABCB11 | c.905C>G (p.Thr302Arg) c.2588C>G (p.Thr863Arg) c.1277C>G (n.1277C>G) c.2630C>G (p.Thr877Arg) c.2690C>G (p.Thr897Arg) c.914C>G (p.Thr305Arg) c.1919C>G (p.Thr640Arg) c.1373C>G (p.Thr458Arg) | |
| 2 | g.168944627G>T | CA349126103 | ABCB11 | c.905C>A (p.Thr302Lys) c.2588C>A (p.Thr863Lys) c.1277C>A (n.1277C>A) c.2630C>A (p.Thr877Lys) c.2690C>A (p.Thr897Lys) c.914C>A (p.Thr305Lys) c.1919C>A (p.Thr640Lys) c.1373C>A (p.Thr458Lys) | |
| 2 | g.168944628T>A | CA349126106 | ABCB11 | c.904A>T (p.Thr302Ser) c.2587A>T (p.Thr863Ser) c.1276A>T (n.1276A>T) c.2629A>T (p.Thr877Ser) c.2689A>T (p.Thr897Ser) c.913A>T (p.Thr305Ser) c.1918A>T (p.Thr640Ser) c.1372A>T (p.Thr458Ser) | |
| 2 | g.168944628T>C | CA349126108 | ABCB11 | c.904A>G (p.Thr302Ala) c.2587A>G (p.Thr863Ala) c.1276A>G (n.1276A>G) c.2629A>G (p.Thr877Ala) c.2689A>G (p.Thr897Ala) c.913A>G (p.Thr305Ala) c.1918A>G (p.Thr640Ala) c.1372A>G (p.Thr458Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.168944628T>G | CA349126109 | ABCB11 | c.904A>C (p.Thr302Pro) c.2587A>C (p.Thr863Pro) c.1276A>C (n.1276A>C) c.2629A>C (p.Thr877Pro) c.2689A>C (p.Thr897Pro) c.913A>C (p.Thr305Pro) c.1918A>C (p.Thr640Pro) c.1372A>C (p.Thr458Pro) | |
| 2 | g.168944628T= | CA1306213475 | ABCB11 | c.904A= (p.Thr302=) c.2587A= (p.Thr863=) c.1276A= (n.1276A=) c.2629A= (p.Thr877=) c.2689A= (p.Thr897=) c.913A= (p.Thr305=) c.1918A= (p.Thr640=) c.1372A= (p.Thr458=) | |
| 2 | g.168944629A= | CA1306213476 | ABCB11 | c.903T= (p.Ala301=) c.2586T= (p.Ala862=) c.1275T= (n.1275T=) c.2628T= (p.Ala876=) c.2688T= (p.Ala896=) c.912T= (p.Ala304=) c.1917T= (p.Ala639=) c.1371T= (p.Ala457=) | |
| 2 | g.168944629A>C | CA429985194 | ABCB11 | c.903T>G (p.Ala301=) c.2586T>G (p.Ala862=) c.1275T>G (n.1275T>G) c.2628T>G (p.Ala876=) c.2688T>G (p.Ala896=) c.912T>G (p.Ala304=) c.1917T>G (p.Ala639=) c.1371T>G (p.Ala457=) | |
| 2 | g.168944629A>G | CA429985195 | ABCB11 | c.903T>C (p.Ala301=) c.2586T>C (p.Ala862=) c.1275T>C (n.1275T>C) c.2628T>C (p.Ala876=) c.2688T>C (p.Ala896=) c.912T>C (p.Ala304=) c.1917T>C (p.Ala639=) c.1371T>C (p.Ala457=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.168944629A>T | CA429985196 | ABCB11 | c.903T>A (p.Ala301=) c.2586T>A (p.Ala862=) c.1275T>A (n.1275T>A) c.2628T>A (p.Ala876=) c.2688T>A (p.Ala896=) c.912T>A (p.Ala304=) c.1917T>A (p.Ala639=) c.1371T>A (p.Ala457=) | |
| 2 | g.168944630G>A | CA349126110 | ABCB11 | c.902C>T (p.Ala301Val) c.2585C>T (p.Ala862Val) c.1274C>T (n.1274C>T) c.2627C>T (p.Ala876Val) c.2687C>T (p.Ala896Val) c.911C>T (p.Ala304Val) c.1916C>T (p.Ala639Val) c.1370C>T (p.Ala457Val) | |
| 2 | g.168944630G>C | CA349126111 | ABCB11 | c.902C>G (p.Ala301Gly) c.2585C>G (p.Ala862Gly) c.1274C>G (n.1274C>G) c.2627C>G (p.Ala876Gly) c.2687C>G (p.Ala896Gly) c.911C>G (p.Ala304Gly) c.1916C>G (p.Ala639Gly) c.1370C>G (p.Ala457Gly) | dbSNP gnomAD v4 |
| 2 | g.168944630G= | CA1306213477 | ABCB11 | c.902C= (p.Ala301=) c.2585C= (p.Ala862=) c.1274C= (n.1274C=) c.2627C= (p.Ala876=) c.2687C= (p.Ala896=) c.911C= (p.Ala304=) c.1916C= (p.Ala639=) c.1370C= (p.Ala457=) | |
| 2 | g.168944630G>T | CA349126112 | ABCB11 | c.902C>A (p.Ala301Asp) c.2585C>A (p.Ala862Asp) c.1274C>A (n.1274C>A) c.2627C>A (p.Ala876Asp) c.2687C>A (p.Ala896Asp) c.911C>A (p.Ala304Asp) c.1916C>A (p.Ala639Asp) c.1370C>A (p.Ala457Asp) | |
| 2 | g.168944631C>A | CA349126115 | ABCB11 | c.901G>T (p.Ala301Ser) c.2584G>T (p.Ala862Ser) c.1273G>T (n.1273G>T) c.2626G>T (p.Ala876Ser) c.2686G>T (p.Ala896Ser) c.910G>T (p.Ala304Ser) c.1915G>T (p.Ala639Ser) c.1369G>T (p.Ala457Ser) | |
| 2 | g.168944631C>G | CA349126117 | ABCB11 | c.901G>C (p.Ala301Pro) c.2584G>C (p.Ala862Pro) c.1273G>C (n.1273G>C) c.2626G>C (p.Ala876Pro) c.2686G>C (p.Ala896Pro) c.910G>C (p.Ala304Pro) c.1915G>C (p.Ala639Pro) c.1369G>C (p.Ala457Pro) | |
| 2 | g.168944631C>T | CA349126122 | ABCB11 | c.901G>A (p.Ala301Thr) c.2584G>A (p.Ala862Thr) c.1273G>A (n.1273G>A) c.2626G>A (p.Ala876Thr) c.2686G>A (p.Ala896Thr) c.910G>A (p.Ala304Thr) c.1915G>A (p.Ala639Thr) c.1369G>A (p.Ala457Thr) | |
| 2 | g.168944632A>C | CA429985199 | ABCB11 | c.900T>G (p.Leu300=) c.2583T>G (p.Leu861=) c.1272T>G (n.1272T>G) c.2625T>G (p.Leu875=) c.2685T>G (p.Leu895=) c.909T>G (p.Leu303=) c.1914T>G (p.Leu638=) c.1368T>G (p.Leu456=) | |
| 2 | g.168944632A>G | CA429985200 | ABCB11 | c.900T>C (p.Leu300=) c.2583T>C (p.Leu861=) c.1272T>C (n.1272T>C) c.2625T>C (p.Leu875=) c.2685T>C (p.Leu895=) c.909T>C (p.Leu303=) c.1914T>C (p.Leu638=) c.1368T>C (p.Leu456=) | gnomAD v4 |
| 2 | g.168944632A>T | CA429985201 | ABCB11 | c.900T>A (p.Leu300=) c.2583T>A (p.Leu861=) c.1272T>A (n.1272T>A) c.2625T>A (p.Leu875=) c.2685T>A (p.Leu895=) c.909T>A (p.Leu303=) c.1914T>A (p.Leu638=) c.1368T>A (p.Leu456=) | |
| 2 | g.168944633A>C | CA349126123 | ABCB11 | c.899T>G (p.Leu300Arg) c.2582T>G (p.Leu861Arg) c.1271T>G (n.1271T>G) c.2624T>G (p.Leu875Arg) c.2684T>G (p.Leu895Arg) c.908T>G (p.Leu303Arg) c.1913T>G (p.Leu638Arg) c.1367T>G (p.Leu456Arg) | |
| 2 | g.168944633A>G | CA349126124 | ABCB11 | c.899T>C (p.Leu300Pro) c.2582T>C (p.Leu861Pro) c.1271T>C (n.1271T>C) c.2624T>C (p.Leu875Pro) c.2684T>C (p.Leu895Pro) c.908T>C (p.Leu303Pro) c.1913T>C (p.Leu638Pro) c.1367T>C (p.Leu456Pro) | |
| 2 | g.168944633A>T | CA349126128 | ABCB11 | c.899T>A (p.Leu300His) c.2582T>A (p.Leu861His) c.1271T>A (n.1271T>A) c.2624T>A (p.Leu875His) c.2684T>A (p.Leu895His) c.908T>A (p.Leu303His) c.1913T>A (p.Leu638His) c.1367T>A (p.Leu456His) | |
| 2 | g.168944634G>A | CA349126131 | ABCB11 | c.898C>T (p.Leu300Phe) c.2581C>T (p.Leu861Phe) c.1270C>T (n.1270C>T) c.2623C>T (p.Leu875Phe) c.2683C>T (p.Leu895Phe) c.907C>T (p.Leu303Phe) c.1912C>T (p.Leu638Phe) c.1366C>T (p.Leu456Phe) | |
| 2 | g.168944634G>C | CA349126136 | ABCB11 | c.898C>G (p.Leu300Val) c.2581C>G (p.Leu861Val) c.1270C>G (n.1270C>G) c.2623C>G (p.Leu875Val) c.2683C>G (p.Leu895Val) c.907C>G (p.Leu303Val) c.1912C>G (p.Leu638Val) c.1366C>G (p.Leu456Val) | |
| 2 | g.168944634G>T | CA349126133 | ABCB11 | c.898C>A (p.Leu300Ile) c.2581C>A (p.Leu861Ile) c.1270C>A (n.1270C>A) c.2623C>A (p.Leu875Ile) c.2683C>A (p.Leu895Ile) c.907C>A (p.Leu303Ile) c.1912C>A (p.Leu638Ile) c.1366C>A (p.Leu456Ile) | |
| 2 | g.168944635T>A | CA349126137 | ABCB11 | c.897A>T (p.Arg299Ser) c.2580A>T (p.Arg860Ser) c.1269A>T (n.1269A>T) c.2622A>T (p.Arg874Ser) c.2682A>T (p.Arg894Ser) c.906A>T (p.Arg302Ser) c.1911A>T (p.Arg637Ser) c.1365A>T (p.Arg455Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |