Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.168944838G>A | CA2661805116 | ABCB11 | c.765+19C>T (n.765+19C>T) c.2448+19C>T (n.2448+19C>T) c.1137+19C>T (n.1137+19C>T) c.2490+19C>T (n.2490+19C>T) c.2550+19C>T (n.2550+19C>T) c.774+19C>T (n.774+19C>T) c.1779+19C>T (n.1779+19C>T) c.1233+19C>T (n.1233+19C>T) | gnomAD v4 |
2 | g.168944838G>T | CA2661805117 | ABCB11 | c.765+19C>A (n.765+19C>A) c.2448+19C>A (n.2448+19C>A) c.1137+19C>A (n.1137+19C>A) c.2490+19C>A (n.2490+19C>A) c.2550+19C>A (n.2550+19C>A) c.774+19C>A (n.774+19C>A) c.1779+19C>A (n.1779+19C>A) c.1233+19C>A (n.1233+19C>A) | gnomAD v4 |
2 | g.168944846A= | CA1306207313 | ABCB11 | c.765+11T= (n.765+11T=) c.2448+11T= (n.2448+11T=) c.1137+11T= (n.1137+11T=) c.2490+11T= (n.2490+11T=) c.2550+11T= (n.2550+11T=) c.774+11T= (n.774+11T=) c.1779+11T= (n.1779+11T=) c.1233+11T= (n.1233+11T=) | |
2 | g.168944846A>G | CA1306207314 | ABCB11 | c.765+11T>C (n.765+11T>C) c.2448+11T>C (n.2448+11T>C) c.1137+11T>C (n.1137+11T>C) c.2490+11T>C (n.2490+11T>C) c.2550+11T>C (n.2550+11T>C) c.774+11T>C (n.774+11T>C) c.1779+11T>C (n.1779+11T>C) c.1233+11T>C (n.1233+11T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168944847C>A | CA1951283 | ABCB11 | c.765+10G>T (n.765+10G>T) c.2448+10G>T (n.2448+10G>T) c.1137+10G>T (n.1137+10G>T) c.2490+10G>T (n.2490+10G>T) c.2550+10G>T (n.2550+10G>T) c.774+10G>T (n.774+10G>T) c.1779+10G>T (n.1779+10G>T) c.1233+10G>T (n.1233+10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944847C= | CA1306207322 | ABCB11 | c.765+10G= (n.765+10G=) c.2448+10G= (n.2448+10G=) c.1137+10G= (n.1137+10G=) c.2490+10G= (n.2490+10G=) c.2550+10G= (n.2550+10G=) c.774+10G= (n.774+10G=) c.1779+10G= (n.1779+10G=) c.1233+10G= (n.1233+10G=) | |
2 | g.168944847C>T | CA59880984 | ABCB11 | c.765+10G>A (n.765+10G>A) c.2448+10G>A (n.2448+10G>A) c.1137+10G>A (n.1137+10G>A) c.2490+10G>A (n.2490+10G>A) c.2550+10G>A (n.2550+10G>A) c.774+10G>A (n.774+10G>A) c.1779+10G>A (n.1779+10G>A) c.1233+10G>A (n.1233+10G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944848A= | CA1306207325 | ABCB11 | c.765+9T= (n.765+9T=) c.2448+9T= (n.2448+9T=) c.1137+9T= (n.1137+9T=) c.2490+9T= (n.2490+9T=) c.2550+9T= (n.2550+9T=) c.774+9T= (n.774+9T=) c.1779+9T= (n.1779+9T=) c.1233+9T= (n.1233+9T=) | |
2 | g.168944848A>G | CA537971259 | ABCB11 | c.765+9T>C (n.765+9T>C) c.2448+9T>C (n.2448+9T>C) c.1137+9T>C (n.1137+9T>C) c.2490+9T>C (n.2490+9T>C) c.2550+9T>C (n.2550+9T>C) c.774+9T>C (n.774+9T>C) c.1779+9T>C (n.1779+9T>C) c.1233+9T>C (n.1233+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944851T>G | CA2661805120 | ABCB11 | c.765+6A>C (n.765+6A>C) c.2448+6A>C (n.2448+6A>C) c.1137+6A>C (n.1137+6A>C) c.2490+6A>C (n.2490+6A>C) c.2550+6A>C (n.2550+6A>C) c.774+6A>C (n.774+6A>C) c.1779+6A>C (n.1779+6A>C) c.1233+6A>C (n.1233+6A>C) | gnomAD v4 |
2 | g.168944852C>A | CA2661805121 | ABCB11 | c.765+5G>T (n.765+5G>T) c.2448+5G>T (n.2448+5G>T) c.1137+5G>T (n.1137+5G>T) c.2490+5G>T (n.2490+5G>T) c.2550+5G>T (n.2550+5G>T) c.774+5G>T (n.774+5G>T) c.1779+5G>T (n.1779+5G>T) c.1233+5G>T (n.1233+5G>T) | gnomAD v4 |
2 | g.168944853T>C | CA2661805122 | ABCB11 | c.765+4A>G (n.765+4A>G) c.2448+4A>G (n.2448+4A>G) c.1137+4A>G (n.1137+4A>G) c.2490+4A>G (n.2490+4A>G) c.2550+4A>G (n.2550+4A>G) c.774+4A>G (n.774+4A>G) c.1779+4A>G (n.1779+4A>G) c.1233+4A>G (n.1233+4A>G) | gnomAD v4 |
2 | g.168944855A>C | CA349127222 | ABCB11 | c.765+2T>G (n.765+2T>G) c.2448+2T>G (n.2448+2T>G) c.1137+2T>G (n.1137+2T>G) c.2490+2T>G (n.2490+2T>G) c.2550+2T>G (n.2550+2T>G) c.774+2T>G (n.774+2T>G) c.1779+2T>G (n.1779+2T>G) c.1233+2T>G (n.1233+2T>G) | |
2 | g.168944855A>G | CA349127224 | ABCB11 | c.765+2T>C (n.765+2T>C) c.2448+2T>C (n.2448+2T>C) c.1137+2T>C (n.1137+2T>C) c.2490+2T>C (n.2490+2T>C) c.2550+2T>C (n.2550+2T>C) c.774+2T>C (n.774+2T>C) c.1779+2T>C (n.1779+2T>C) c.1233+2T>C (n.1233+2T>C) | |
2 | g.168944855A>T | CA349127234 | ABCB11 | c.765+2T>A (n.765+2T>A) c.2448+2T>A (n.2448+2T>A) c.1137+2T>A (n.1137+2T>A) c.2490+2T>A (n.2490+2T>A) c.2550+2T>A (n.2550+2T>A) c.774+2T>A (n.774+2T>A) c.1779+2T>A (n.1779+2T>A) c.1233+2T>A (n.1233+2T>A) | |
2 | g.168944856C>A | CA349127237 | ABCB11 | c.765+1G>T (n.765+1G>T) c.2448+1G>T (n.2448+1G>T) c.1137+1G>T (n.1137+1G>T) c.2490+1G>T (n.2490+1G>T) c.2550+1G>T (n.2550+1G>T) c.774+1G>T (n.774+1G>T) c.1779+1G>T (n.1779+1G>T) c.1233+1G>T (n.1233+1G>T) | gnomAD v4 |
2 | g.168944856C= | CA1306207328 | ABCB11 | c.765+1G= (n.765+1G=) c.2448+1G= (n.2448+1G=) c.1137+1G= (n.1137+1G=) c.2490+1G= (n.2490+1G=) c.2550+1G= (n.2550+1G=) c.774+1G= (n.774+1G=) c.1779+1G= (n.1779+1G=) c.1233+1G= (n.1233+1G=) | |
2 | g.168944856C>G | CA349127240 | ABCB11 | c.765+1G>C (n.765+1G>C) c.2448+1G>C (n.2448+1G>C) c.1137+1G>C (n.1137+1G>C) c.2490+1G>C (n.2490+1G>C) c.2550+1G>C (n.2550+1G>C) c.774+1G>C (n.774+1G>C) c.1779+1G>C (n.1779+1G>C) c.1233+1G>C (n.1233+1G>C) | |
2 | g.168944856C>T | CA1951284 | ABCB11 | c.765+1G>A (n.765+1G>A) c.2448+1G>A (n.2448+1G>A) c.1137+1G>A (n.1137+1G>A) c.2490+1G>A (n.2490+1G>A) c.2550+1G>A (n.2550+1G>A) c.774+1G>A (n.774+1G>A) c.1779+1G>A (n.1779+1G>A) c.1233+1G>A (n.1233+1G>A) | dbSNP ExAC gnomAD v2 |
2 | g.168944856_168944862delinsCCTGTAG | CA1306207329 | ABCB11 | c.760_765+1delinsCTACAGG c.2443_2448+1delinsCTACAGG c.1132_1137+1delinsCTACAGG c.2485_2490+1delinsCTACAGG c.2545_2550+1delinsCTACAGG c.769_774+1delinsCTACAGG c.1774_1779+1delinsCTACAGG c.1228_1233+1delinsCTACAGG | |
2 | g.168944857C>A | CA349127242 | ABCB11 | c.765G>T (p.Gln255His) c.2448G>T (p.Gln816His) c.1137G>T (n.1137G>T) c.2490G>T (p.Gln830His) c.2550G>T (p.Gln850His) c.774G>T (p.Gln258His) c.1779G>T (p.Gln593His) c.1233G>T (p.Gln411His) | gnomAD v4 |
2 | g.168944857C>G | CA349127243 | ABCB11 | c.765G>C (p.Gln255His) c.2448G>C (p.Gln816His) c.1137G>C (n.1137G>C) c.2490G>C (p.Gln830His) c.2550G>C (p.Gln850His) c.774G>C (p.Gln258His) c.1779G>C (p.Gln593His) c.1233G>C (p.Gln411His) | |
2 | g.168944857C>T | CA429985320 | ABCB11 | c.765G>A (p.Gln255=) c.2448G>A (p.Gln816=) c.1137G>A (n.1137G>A) c.2490G>A (p.Gln830=) c.2550G>A (p.Gln850=) c.774G>A (p.Gln258=) c.1779G>A (p.Gln593=) c.1233G>A (p.Gln411=) | ClinVar dbSNP gnomAD v4 |
2 | g.168944857_168944862delinsTAAATCACTTACTGAA | CA1139657335 | ABCB11 | c.760_765delinsTTCAGTAAGTGATTTA (p.Leu254PhefsTer4) c.2443_2448delinsTTCAGTAAGTGATTTA (p.Leu815PhefsTer4) c.1132_1137delinsTTCAGTAAGTGATTTA (n.1132_1137delinsTTCAGTAAGTGATTTA) c.2485_2490delinsTTCAGTAAGTGATTTA (p.Leu829PhefsTer4) c.2545_2550delinsTTCAGTAAGTGATTTA (p.Leu849PhefsTer4) c.769_774delinsTTCAGTAAGTGATTTA (p.Leu257PhefsTer4) c.1774_1779delinsTTCAGTAAGTGATTTA (p.Leu592PhefsTer4) c.1228_1233delinsTTCAGTAAGTGATTTA (p.Leu410PhefsTer4) | ClinVar dbSNP |
2 | g.168944858T>A | CA349127244 | ABCB11 | c.764A>T (p.Gln255Leu) c.2447A>T (p.Gln816Leu) c.1136A>T (n.1136A>T) c.2489A>T (p.Gln830Leu) c.2549A>T (p.Gln850Leu) c.773A>T (p.Gln258Leu) c.1778A>T (p.Gln593Leu) c.1232A>T (p.Gln411Leu) | |
2 | g.168944858T>C | CA349127245 | ABCB11 | c.764A>G (p.Gln255Arg) c.2447A>G (p.Gln816Arg) c.1136A>G (n.1136A>G) c.2489A>G (p.Gln830Arg) c.2549A>G (p.Gln850Arg) c.773A>G (p.Gln258Arg) c.1778A>G (p.Gln593Arg) c.1232A>G (p.Gln411Arg) | gnomAD v4 |
2 | g.168944858T>G | CA349127246 | ABCB11 | c.764A>C (p.Gln255Pro) c.2447A>C (p.Gln816Pro) c.1136A>C (n.1136A>C) c.2489A>C (p.Gln830Pro) c.2549A>C (p.Gln850Pro) c.773A>C (p.Gln258Pro) c.1778A>C (p.Gln593Pro) c.1232A>C (p.Gln411Pro) | ClinVar |
2 | g.168944859G>A | CA349127251 | ABCB11 | c.763C>T (p.Gln255Ter) c.2446C>T (p.Gln816Ter) c.1135C>T (n.1135C>T) c.2488C>T (p.Gln830Ter) c.2548C>T (p.Gln850Ter) c.772C>T (p.Gln258Ter) c.1777C>T (p.Gln593Ter) c.1231C>T (p.Gln411Ter) | |
2 | g.168944859G>C | CA349127250 | ABCB11 | c.763C>G (p.Gln255Glu) c.2446C>G (p.Gln816Glu) c.1135C>G (n.1135C>G) c.2488C>G (p.Gln830Glu) c.2548C>G (p.Gln850Glu) c.772C>G (p.Gln258Glu) c.1777C>G (p.Gln593Glu) c.1231C>G (p.Gln411Glu) | |
2 | g.168944859G>T | CA349127247 | ABCB11 | c.763C>A (p.Gln255Lys) c.2446C>A (p.Gln816Lys) c.1135C>A (n.1135C>A) c.2488C>A (p.Gln830Lys) c.2548C>A (p.Gln850Lys) c.772C>A (p.Gln258Lys) c.1777C>A (p.Gln593Lys) c.1231C>A (p.Gln411Lys) | gnomAD v4 |
2 | g.168944860T>A | CA429985324 | ABCB11 | c.762A>T (p.Leu254=) c.2445A>T (p.Leu815=) c.1134A>T (n.1134A>T) c.2487A>T (p.Leu829=) c.2547A>T (p.Leu849=) c.771A>T (p.Leu257=) c.1776A>T (p.Leu592=) c.1230A>T (p.Leu410=) | |
2 | g.168944860T>C | CA429985325 | ABCB11 | c.762A>G (p.Leu254=) c.2445A>G (p.Leu815=) c.1134A>G (n.1134A>G) c.2487A>G (p.Leu829=) c.2547A>G (p.Leu849=) c.771A>G (p.Leu257=) c.1776A>G (p.Leu592=) c.1230A>G (p.Leu410=) | |
2 | g.168944860T>G | CA429985327 | ABCB11 | c.762A>C (p.Leu254=) c.2445A>C (p.Leu815=) c.1134A>C (n.1134A>C) c.2487A>C (p.Leu829=) c.2547A>C (p.Leu849=) c.771A>C (p.Leu257=) c.1776A>C (p.Leu592=) c.1230A>C (p.Leu410=) | |
2 | g.168944861A>C | CA349127255 | ABCB11 | c.761T>G (p.Leu254Arg) c.2444T>G (p.Leu815Arg) c.1133T>G (n.1133T>G) c.2486T>G (p.Leu829Arg) c.2546T>G (p.Leu849Arg) c.770T>G (p.Leu257Arg) c.1775T>G (p.Leu592Arg) c.1229T>G (p.Leu410Arg) | |
2 | g.168944861A>G | CA349127257 | ABCB11 | c.761T>C (p.Leu254Pro) c.2444T>C (p.Leu815Pro) c.1133T>C (n.1133T>C) c.2486T>C (p.Leu829Pro) c.2546T>C (p.Leu849Pro) c.770T>C (p.Leu257Pro) c.1775T>C (p.Leu592Pro) c.1229T>C (p.Leu410Pro) | gnomAD v4 |
2 | g.168944861A>T | CA349127259 | ABCB11 | c.761T>A (p.Leu254Gln) c.2444T>A (p.Leu815Gln) c.1133T>A (n.1133T>A) c.2486T>A (p.Leu829Gln) c.2546T>A (p.Leu849Gln) c.770T>A (p.Leu257Gln) c.1775T>A (p.Leu592Gln) c.1229T>A (p.Leu410Gln) | |
2 | g.168944862G>A | CA429985332 | ABCB11 | c.760C>T (p.Leu254=) c.2443C>T (p.Leu815=) c.1132C>T (n.1132C>T) c.2485C>T (p.Leu829=) c.2545C>T (p.Leu849=) c.769C>T (p.Leu257=) c.1774C>T (p.Leu592=) c.1228C>T (p.Leu410=) | |
2 | g.168944862G>C | CA349127274 | ABCB11 | c.760C>G (p.Leu254Val) c.2443C>G (p.Leu815Val) c.1132C>G (n.1132C>G) c.2485C>G (p.Leu829Val) c.2545C>G (p.Leu849Val) c.769C>G (p.Leu257Val) c.1774C>G (p.Leu592Val) c.1228C>G (p.Leu410Val) | |
2 | g.168944862G>T | CA349127275 | ABCB11 | c.760C>A (p.Leu254Ile) c.2443C>A (p.Leu815Ile) c.1132C>A (n.1132C>A) c.2485C>A (p.Leu829Ile) c.2545C>A (p.Leu849Ile) c.769C>A (p.Leu257Ile) c.1774C>A (p.Leu592Ile) c.1228C>A (p.Leu410Ile) | gnomAD v4 |
2 | g.168944863A>C | CA349127276 | ABCB11 | c.759T>G (p.Phe253Leu) c.2442T>G (p.Phe814Leu) c.1131T>G (n.1131T>G) c.2484T>G (p.Phe828Leu) c.2544T>G (p.Phe848Leu) c.768T>G (p.Phe256Leu) c.1773T>G (p.Phe591Leu) c.1227T>G (p.Phe409Leu) | |
2 | g.168944863A>G | CA429985335 | ABCB11 | c.759T>C (p.Phe253=) c.2442T>C (p.Phe814=) c.1131T>C (n.1131T>C) c.2484T>C (p.Phe828=) c.2544T>C (p.Phe848=) c.768T>C (p.Phe256=) c.1773T>C (p.Phe591=) c.1227T>C (p.Phe409=) | |
2 | g.168944863A>T | CA349127277 | ABCB11 | c.759T>A (p.Phe253Leu) c.2442T>A (p.Phe814Leu) c.1131T>A (n.1131T>A) c.2484T>A (p.Phe828Leu) c.2544T>A (p.Phe848Leu) c.768T>A (p.Phe256Leu) c.1773T>A (p.Phe591Leu) c.1227T>A (p.Phe409Leu) | |
2 | g.168944864A>C | CA349127278 | ABCB11 | c.758T>G (p.Phe253Cys) c.2441T>G (p.Phe814Cys) c.1130T>G (n.1130T>G) c.2483T>G (p.Phe828Cys) c.2543T>G (p.Phe848Cys) c.767T>G (p.Phe256Cys) c.1772T>G (p.Phe591Cys) c.1226T>G (p.Phe409Cys) | |
2 | g.168944864A>G | CA349127280 | ABCB11 | c.758T>C (p.Phe253Ser) c.2441T>C (p.Phe814Ser) c.1130T>C (n.1130T>C) c.2483T>C (p.Phe828Ser) c.2543T>C (p.Phe848Ser) c.767T>C (p.Phe256Ser) c.1772T>C (p.Phe591Ser) c.1226T>C (p.Phe409Ser) | |
2 | g.168944864A>T | CA349127283 | ABCB11 | c.758T>A (p.Phe253Tyr) c.2441T>A (p.Phe814Tyr) c.1130T>A (n.1130T>A) c.2483T>A (p.Phe828Tyr) c.2543T>A (p.Phe848Tyr) c.767T>A (p.Phe256Tyr) c.1772T>A (p.Phe591Tyr) c.1226T>A (p.Phe409Tyr) | |
2 | g.168944865A>C | CA349127287 | ABCB11 | c.757T>G (p.Phe253Val) c.2440T>G (p.Phe814Val) c.1129T>G (n.1129T>G) c.2482T>G (p.Phe828Val) c.2542T>G (p.Phe848Val) c.766T>G (p.Phe256Val) c.1771T>G (p.Phe591Val) c.1225T>G (p.Phe409Val) | |
2 | g.168944865A>G | CA349127289 | ABCB11 | c.757T>C (p.Phe253Leu) c.2440T>C (p.Phe814Leu) c.1129T>C (n.1129T>C) c.2482T>C (p.Phe828Leu) c.2542T>C (p.Phe848Leu) c.766T>C (p.Phe256Leu) c.1771T>C (p.Phe591Leu) c.1225T>C (p.Phe409Leu) | |
2 | g.168944865A>T | CA349127295 | ABCB11 | c.757T>A (p.Phe253Ile) c.2440T>A (p.Phe814Ile) c.1129T>A (n.1129T>A) c.2482T>A (p.Phe828Ile) c.2542T>A (p.Phe848Ile) c.766T>A (p.Phe256Ile) c.1771T>A (p.Phe591Ile) c.1225T>A (p.Phe409Ile) | |
2 | g.168944866T>A | CA349127302 | ABCB11 | c.756A>T (p.Gln252His) c.2439A>T (p.Gln813His) c.1128A>T (n.1128A>T) c.2481A>T (p.Gln827His) c.2541A>T (p.Gln847His) c.765A>T (p.Gln255His) c.1770A>T (p.Gln590His) c.1224A>T (p.Gln408His) | |
2 | g.168944866T>C | CA1951285 | ABCB11 | c.756A>G (p.Gln252=) c.2439A>G (p.Gln813=) c.1128A>G (n.1128A>G) c.2481A>G (p.Gln827=) c.2541A>G (p.Gln847=) c.765A>G (p.Gln255=) c.1770A>G (p.Gln590=) c.1224A>G (p.Gln408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944866T>G | CA349127300 | ABCB11 | c.756A>C (p.Gln252His) c.2439A>C (p.Gln813His) c.1128A>C (n.1128A>C) c.2481A>C (p.Gln827His) c.2541A>C (p.Gln847His) c.765A>C (p.Gln255His) c.1770A>C (p.Gln590His) c.1224A>C (p.Gln408His) | |
2 | g.168944866T= | CA1306207337 | ABCB11 | c.756A= (p.Gln252=) c.2439A= (p.Gln813=) c.1128A= (n.1128A=) c.2481A= (p.Gln827=) c.2541A= (p.Gln847=) c.765A= (p.Gln255=) c.1770A= (p.Gln590=) c.1224A= (p.Gln408=) | |
2 | g.168944867T>A | CA349127305 | ABCB11 | c.755A>T (p.Gln252Leu) c.2438A>T (p.Gln813Leu) c.1127A>T (n.1127A>T) c.2480A>T (p.Gln827Leu) c.2540A>T (p.Gln847Leu) c.764A>T (p.Gln255Leu) c.1769A>T (p.Gln590Leu) c.1223A>T (p.Gln408Leu) | |
2 | g.168944867T>C | CA349127308 | ABCB11 | c.755A>G (p.Gln252Arg) c.2438A>G (p.Gln813Arg) c.1127A>G (n.1127A>G) c.2480A>G (p.Gln827Arg) c.2540A>G (p.Gln847Arg) c.764A>G (p.Gln255Arg) c.1769A>G (p.Gln590Arg) c.1223A>G (p.Gln408Arg) | |
2 | g.168944867T>G | CA349127309 | ABCB11 | c.755A>C (p.Gln252Pro) c.2438A>C (p.Gln813Pro) c.1127A>C (n.1127A>C) c.2480A>C (p.Gln827Pro) c.2540A>C (p.Gln847Pro) c.764A>C (p.Gln255Pro) c.1769A>C (p.Gln590Pro) c.1223A>C (p.Gln408Pro) | |
2 | g.168944868G>A | CA349127312 | ABCB11 | c.754C>T (p.Gln252Ter) c.2437C>T (p.Gln813Ter) c.1126C>T (n.1126C>T) c.2479C>T (p.Gln827Ter) c.2539C>T (p.Gln847Ter) c.763C>T (p.Gln255Ter) c.1768C>T (p.Gln590Ter) c.1222C>T (p.Gln408Ter) | ClinVar dbSNP |
2 | g.168944868G>C | CA349127315 | ABCB11 | c.754C>G (p.Gln252Glu) c.2437C>G (p.Gln813Glu) c.1126C>G (n.1126C>G) c.2479C>G (p.Gln827Glu) c.2539C>G (p.Gln847Glu) c.763C>G (p.Gln255Glu) c.1768C>G (p.Gln590Glu) c.1222C>G (p.Gln408Glu) | |
2 | g.168944868G>T | CA349127319 | ABCB11 | c.754C>A (p.Gln252Lys) c.2437C>A (p.Gln813Lys) c.1126C>A (n.1126C>A) c.2479C>A (p.Gln827Lys) c.2539C>A (p.Gln847Lys) c.763C>A (p.Gln255Lys) c.1768C>A (p.Gln590Lys) c.1222C>A (p.Gln408Lys) | |
2 | g.168944869G>A | CA429985349 | ABCB11 | c.753C>T (p.Thr251=) c.2436C>T (p.Thr812=) c.1125C>T (n.1125C>T) c.2478C>T (p.Thr826=) c.2538C>T (p.Thr846=) c.762C>T (p.Thr254=) c.1767C>T (p.Thr589=) c.1221C>T (p.Thr407=) | gnomAD v4 |
2 | g.168944869G>C | CA429985350 | ABCB11 | c.753C>G (p.Thr251=) c.2436C>G (p.Thr812=) c.1125C>G (n.1125C>G) c.2478C>G (p.Thr826=) c.2538C>G (p.Thr846=) c.762C>G (p.Thr254=) c.1767C>G (p.Thr589=) c.1221C>G (p.Thr407=) | |
2 | g.168944869G>T | CA429985351 | ABCB11 | c.753C>A (p.Thr251=) c.2436C>A (p.Thr812=) c.1125C>A (n.1125C>A) c.2478C>A (p.Thr826=) c.2538C>A (p.Thr846=) c.762C>A (p.Thr254=) c.1767C>A (p.Thr589=) c.1221C>A (p.Thr407=) | |
2 | g.168944870G>A | CA349127320 | ABCB11 | c.752C>T (p.Thr251Ile) c.2435C>T (p.Thr812Ile) c.1124C>T (n.1124C>T) c.2477C>T (p.Thr826Ile) c.2537C>T (p.Thr846Ile) c.761C>T (p.Thr254Ile) c.1766C>T (p.Thr589Ile) c.1220C>T (p.Thr407Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944870G>C | CA349127321 | ABCB11 | c.752C>G (p.Thr251Ser) c.2435C>G (p.Thr812Ser) c.1124C>G (n.1124C>G) c.2477C>G (p.Thr826Ser) c.2537C>G (p.Thr846Ser) c.761C>G (p.Thr254Ser) c.1766C>G (p.Thr589Ser) c.1220C>G (p.Thr407Ser) | |
2 | g.168944870G= | CA1306207344 | ABCB11 | c.752C= (p.Thr251=) c.2435C= (p.Thr812=) c.1124C= (n.1124C=) c.2477C= (p.Thr826=) c.2537C= (p.Thr846=) c.761C= (p.Thr254=) c.1766C= (p.Thr589=) c.1220C= (p.Thr407=) | |
2 | g.168944870G>T | CA349127322 | ABCB11 | c.752C>A (p.Thr251Asn) c.2435C>A (p.Thr812Asn) c.1124C>A (n.1124C>A) c.2477C>A (p.Thr826Asn) c.2537C>A (p.Thr846Asn) c.761C>A (p.Thr254Asn) c.1766C>A (p.Thr589Asn) c.1220C>A (p.Thr407Asn) | gnomAD v4 |
2 | g.168944871T>A | CA349127325 | ABCB11 | c.751A>T (p.Thr251Ser) c.2434A>T (p.Thr812Ser) c.1123A>T (n.1123A>T) c.2476A>T (p.Thr826Ser) c.2536A>T (p.Thr846Ser) c.760A>T (p.Thr254Ser) c.1765A>T (p.Thr589Ser) c.1219A>T (p.Thr407Ser) | |
2 | g.168944871T>C | CA349127327 | ABCB11 | c.751A>G (p.Thr251Ala) c.2434A>G (p.Thr812Ala) c.1123A>G (n.1123A>G) c.2476A>G (p.Thr826Ala) c.2536A>G (p.Thr846Ala) c.760A>G (p.Thr254Ala) c.1765A>G (p.Thr589Ala) c.1219A>G (p.Thr407Ala) | |
2 | g.168944871T>G | CA349127335 | ABCB11 | c.751A>C (p.Thr251Pro) c.2434A>C (p.Thr812Pro) c.1123A>C (n.1123A>C) c.2476A>C (p.Thr826Pro) c.2536A>C (p.Thr846Pro) c.760A>C (p.Thr254Pro) c.1765A>C (p.Thr589Pro) c.1219A>C (p.Thr407Pro) | |
2 | g.168944872G>A | CA429985361 | ABCB11 | c.750C>T (p.Phe250=) c.2433C>T (p.Phe811=) c.1122C>T (n.1122C>T) c.2475C>T (p.Phe825=) c.2535C>T (p.Phe845=) c.759C>T (p.Phe253=) c.1764C>T (p.Phe588=) c.1218C>T (p.Phe406=) | gnomAD v4 |
2 | g.168944872G>C | CA349127344 | ABCB11 | c.750C>G (p.Phe250Leu) c.2433C>G (p.Phe811Leu) c.1122C>G (n.1122C>G) c.2475C>G (p.Phe825Leu) c.2535C>G (p.Phe845Leu) c.759C>G (p.Phe253Leu) c.1764C>G (p.Phe588Leu) c.1218C>G (p.Phe406Leu) | |
2 | g.168944872G>T | CA349127341 | ABCB11 | c.750C>A (p.Phe250Leu) c.2433C>A (p.Phe811Leu) c.1122C>A (n.1122C>A) c.2475C>A (p.Phe825Leu) c.2535C>A (p.Phe845Leu) c.759C>A (p.Phe253Leu) c.1764C>A (p.Phe588Leu) c.1218C>A (p.Phe406Leu) | gnomAD v4 |
2 | g.168944873A>C | CA349127348 | ABCB11 | c.749T>G (p.Phe250Cys) c.2432T>G (p.Phe811Cys) c.1121T>G (n.1121T>G) c.2474T>G (p.Phe825Cys) c.2534T>G (p.Phe845Cys) c.758T>G (p.Phe253Cys) c.1763T>G (p.Phe588Cys) c.1217T>G (p.Phe406Cys) | gnomAD v4 |
2 | g.168944873A>G | CA349127364 | ABCB11 | c.749T>C (p.Phe250Ser) c.2432T>C (p.Phe811Ser) c.1121T>C (n.1121T>C) c.2474T>C (p.Phe825Ser) c.2534T>C (p.Phe845Ser) c.758T>C (p.Phe253Ser) c.1763T>C (p.Phe588Ser) c.1217T>C (p.Phe406Ser) | |
2 | g.168944873A>T | CA349127350 | ABCB11 | c.749T>A (p.Phe250Tyr) c.2432T>A (p.Phe811Tyr) c.1121T>A (n.1121T>A) c.2474T>A (p.Phe825Tyr) c.2534T>A (p.Phe845Tyr) c.758T>A (p.Phe253Tyr) c.1763T>A (p.Phe588Tyr) c.1217T>A (p.Phe406Tyr) | |
2 | g.168944876del | CA2661805140 | ABCB11 | c.749del (p.Phe250SerfsTer17) c.2432del (p.Phe811SerfsTer17) c.1121del (n.1121del) c.2474del (p.Phe825SerfsTer17) c.2534del (p.Phe845SerfsTer17) c.758del (p.Phe253SerfsTer17) c.1763del (p.Phe588SerfsTer17) c.1217del (p.Phe406SerfsTer17) | ClinVar gnomAD v4 |
2 | g.168944874A>C | CA349127378 | ABCB11 | c.748T>G (p.Phe250Val) c.2431T>G (p.Phe811Val) c.1120T>G (n.1120T>G) c.2473T>G (p.Phe825Val) c.2533T>G (p.Phe845Val) c.757T>G (p.Phe253Val) c.1762T>G (p.Phe588Val) c.1216T>G (p.Phe406Val) | |
2 | g.168944874A>G | CA349127382 | ABCB11 | c.748T>C (p.Phe250Leu) c.2431T>C (p.Phe811Leu) c.1120T>C (n.1120T>C) c.2473T>C (p.Phe825Leu) c.2533T>C (p.Phe845Leu) c.757T>C (p.Phe253Leu) c.1762T>C (p.Phe588Leu) c.1216T>C (p.Phe406Leu) | |
2 | g.168944874A>T | CA349127386 | ABCB11 | c.748T>A (p.Phe250Ile) c.2431T>A (p.Phe811Ile) c.1120T>A (n.1120T>A) c.2473T>A (p.Phe825Ile) c.2533T>A (p.Phe845Ile) c.757T>A (p.Phe253Ile) c.1762T>A (p.Phe588Ile) c.1216T>A (p.Phe406Ile) | |
2 | g.168944875A>C | CA429985365 | ABCB11 | c.747T>G (p.Leu249=) c.2430T>G (p.Leu810=) c.1119T>G (n.1119T>G) c.2472T>G (p.Leu824=) c.2532T>G (p.Leu844=) c.756T>G (p.Leu252=) c.1761T>G (p.Leu587=) c.1215T>G (p.Leu405=) | |
2 | g.168944875A>G | CA429985366 | ABCB11 | c.747T>C (p.Leu249=) c.2430T>C (p.Leu810=) c.1119T>C (n.1119T>C) c.2472T>C (p.Leu824=) c.2532T>C (p.Leu844=) c.756T>C (p.Leu252=) c.1761T>C (p.Leu587=) c.1215T>C (p.Leu405=) | |
2 | g.168944875A>T | CA429985367 | ABCB11 | c.747T>A (p.Leu249=) c.2430T>A (p.Leu810=) c.1119T>A (n.1119T>A) c.2472T>A (p.Leu824=) c.2532T>A (p.Leu844=) c.756T>A (p.Leu252=) c.1761T>A (p.Leu587=) c.1215T>A (p.Leu405=) | |
2 | g.168944876A>C | CA349127387 | ABCB11 | c.746T>G (p.Leu249Arg) c.2429T>G (p.Leu810Arg) c.1118T>G (n.1118T>G) c.2471T>G (p.Leu824Arg) c.2531T>G (p.Leu844Arg) c.755T>G (p.Leu252Arg) c.1760T>G (p.Leu587Arg) c.1214T>G (p.Leu405Arg) | |
2 | g.168944876A>G | CA349127388 | ABCB11 | c.746T>C (p.Leu249Pro) c.2429T>C (p.Leu810Pro) c.1118T>C (n.1118T>C) c.2471T>C (p.Leu824Pro) c.2531T>C (p.Leu844Pro) c.755T>C (p.Leu252Pro) c.1760T>C (p.Leu587Pro) c.1214T>C (p.Leu405Pro) | |
2 | g.168944876A>T | CA349127392 | ABCB11 | c.746T>A (p.Leu249His) c.2429T>A (p.Leu810His) c.1118T>A (n.1118T>A) c.2471T>A (p.Leu824His) c.2531T>A (p.Leu844His) c.755T>A (p.Leu252His) c.1760T>A (p.Leu587His) c.1214T>A (p.Leu405His) | |
2 | g.168944877G>A | CA349127397 | ABCB11 | c.745C>T (p.Leu249Phe) c.2428C>T (p.Leu810Phe) c.1117C>T (n.1117C>T) c.2470C>T (p.Leu824Phe) c.2530C>T (p.Leu844Phe) c.754C>T (p.Leu252Phe) c.1759C>T (p.Leu587Phe) c.1213C>T (p.Leu405Phe) | |
2 | g.168944877G>C | CA349127400 | ABCB11 | c.745C>G (p.Leu249Val) c.2428C>G (p.Leu810Val) c.1117C>G (n.1117C>G) c.2470C>G (p.Leu824Val) c.2530C>G (p.Leu844Val) c.754C>G (p.Leu252Val) c.1759C>G (p.Leu587Val) c.1213C>G (p.Leu405Val) | |
2 | g.168944877G>T | CA349127406 | ABCB11 | c.745C>A (p.Leu249Ile) c.2428C>A (p.Leu810Ile) c.1117C>A (n.1117C>A) c.2470C>A (p.Leu824Ile) c.2530C>A (p.Leu844Ile) c.754C>A (p.Leu252Ile) c.1759C>A (p.Leu587Ile) c.1213C>A (p.Leu405Ile) | gnomAD v4 |
2 | g.168944878A>C | CA429985371 | ABCB11 | c.744T>G (p.Ser248=) c.2427T>G (p.Ser809=) c.1116T>G (n.1116T>G) c.2469T>G (p.Ser823=) c.2529T>G (p.Ser843=) c.753T>G (p.Ser251=) c.1758T>G (p.Ser586=) c.1212T>G (p.Ser404=) | |
2 | g.168944878A>G | CA429985372 | ABCB11 | c.744T>C (p.Ser248=) c.2427T>C (p.Ser809=) c.1116T>C (n.1116T>C) c.2469T>C (p.Ser823=) c.2529T>C (p.Ser843=) c.753T>C (p.Ser251=) c.1758T>C (p.Ser586=) c.1212T>C (p.Ser404=) | |
2 | g.168944878A>T | CA429985370 | ABCB11 | c.744T>A (p.Ser248=) c.2427T>A (p.Ser809=) c.1116T>A (n.1116T>A) c.2469T>A (p.Ser823=) c.2529T>A (p.Ser843=) c.753T>A (p.Ser251=) c.1758T>A (p.Ser586=) c.1212T>A (p.Ser404=) | |
2 | g.168944879G>A | CA1951286 | ABCB11 | c.743C>T (p.Ser248Phe) c.2426C>T (p.Ser809Phe) c.1115C>T (n.1115C>T) c.2468C>T (p.Ser823Phe) c.2528C>T (p.Ser843Phe) c.752C>T (p.Ser251Phe) c.1757C>T (p.Ser586Phe) c.1211C>T (p.Ser404Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168944879G>C | CA349127412 | ABCB11 | c.743C>G (p.Ser248Cys) c.2426C>G (p.Ser809Cys) c.1115C>G (n.1115C>G) c.2468C>G (p.Ser823Cys) c.2528C>G (p.Ser843Cys) c.752C>G (p.Ser251Cys) c.1757C>G (p.Ser586Cys) c.1211C>G (p.Ser404Cys) | |
2 | g.168944879G= | CA1306207348 | ABCB11 | c.743C= (p.Ser248=) c.2426C= (p.Ser809=) c.1115C= (n.1115C=) c.2468C= (p.Ser823=) c.2528C= (p.Ser843=) c.752C= (p.Ser251=) c.1757C= (p.Ser586=) c.1211C= (p.Ser404=) | |
2 | g.168944879G>T | CA349127413 | ABCB11 | c.743C>A (p.Ser248Tyr) c.2426C>A (p.Ser809Tyr) c.1115C>A (n.1115C>A) c.2468C>A (p.Ser823Tyr) c.2528C>A (p.Ser843Tyr) c.752C>A (p.Ser251Tyr) c.1757C>A (p.Ser586Tyr) c.1211C>A (p.Ser404Tyr) | gnomAD v4 |
2 | g.168944880A= | CA1306207352 | ABCB11 | c.742T= (p.Ser248=) c.2425T= (p.Ser809=) c.1114T= (n.1114T=) c.2467T= (p.Ser823=) c.2527T= (p.Ser843=) c.751T= (p.Ser251=) c.1756T= (p.Ser586=) c.1210T= (p.Ser404=) | |
2 | g.168944880A>C | CA349127421 | ABCB11 | c.742T>G (p.Ser248Ala) c.2425T>G (p.Ser809Ala) c.1114T>G (n.1114T>G) c.2467T>G (p.Ser823Ala) c.2527T>G (p.Ser843Ala) c.751T>G (p.Ser251Ala) c.1756T>G (p.Ser586Ala) c.1210T>G (p.Ser404Ala) | |
2 | g.168944880A>G | CA349127415 | ABCB11 | c.742T>C (p.Ser248Pro) c.2425T>C (p.Ser809Pro) c.1114T>C (n.1114T>C) c.2467T>C (p.Ser823Pro) c.2527T>C (p.Ser843Pro) c.751T>C (p.Ser251Pro) c.1756T>C (p.Ser586Pro) c.1210T>C (p.Ser404Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168944880A>T | CA349127419 | ABCB11 | c.742T>A (p.Ser248Thr) c.2425T>A (p.Ser809Thr) c.1114T>A (n.1114T>A) c.2467T>A (p.Ser823Thr) c.2527T>A (p.Ser843Thr) c.751T>A (p.Ser251Thr) c.1756T>A (p.Ser586Thr) c.1210T>A (p.Ser404Thr) | |
2 | g.168944881T>A | CA429985381 | ABCB11 | c.741A>T (p.Val247=) c.2424A>T (p.Val808=) c.1113A>T (n.1113A>T) c.2466A>T (p.Val822=) c.2526A>T (p.Val842=) c.750A>T (p.Val250=) c.1755A>T (p.Val585=) c.1209A>T (p.Val403=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944881T>C | CA429985380 | ABCB11 | c.741A>G (p.Val247=) c.2424A>G (p.Val808=) c.1113A>G (n.1113A>G) c.2466A>G (p.Val822=) c.2526A>G (p.Val842=) c.750A>G (p.Val250=) c.1755A>G (p.Val585=) c.1209A>G (p.Val403=) | gnomAD v4 |
2 | g.168944881T>G | CA429985379 | ABCB11 | c.741A>C (p.Val247=) c.2424A>C (p.Val808=) c.1113A>C (n.1113A>C) c.2466A>C (p.Val822=) c.2526A>C (p.Val842=) c.750A>C (p.Val250=) c.1755A>C (p.Val585=) c.1209A>C (p.Val403=) | |
2 | g.168944881T= | CA1306207355 | ABCB11 | c.741A= (p.Val247=) c.2424A= (p.Val808=) c.1113A= (n.1113A=) c.2466A= (p.Val822=) c.2526A= (p.Val842=) c.750A= (p.Val250=) c.1755A= (p.Val585=) c.1209A= (p.Val403=) | |
2 | g.168944882A= | CA1306207358 | ABCB11 | c.740T= (p.Val247=) c.2423T= (p.Val808=) c.1112T= (n.1112T=) c.2465T= (p.Val822=) c.2525T= (p.Val842=) c.749T= (p.Val250=) c.1754T= (p.Val585=) c.1208T= (p.Val403=) | |
2 | g.168944882A>C | CA349127425 | ABCB11 | c.740T>G (p.Val247Gly) c.2423T>G (p.Val808Gly) c.1112T>G (n.1112T>G) c.2465T>G (p.Val822Gly) c.2525T>G (p.Val842Gly) c.749T>G (p.Val250Gly) c.1754T>G (p.Val585Gly) c.1208T>G (p.Val403Gly) | |
2 | g.168944882A>G | CA1951287 | ABCB11 | c.740T>C (p.Val247Ala) c.2423T>C (p.Val808Ala) c.1112T>C (n.1112T>C) c.2465T>C (p.Val822Ala) c.2525T>C (p.Val842Ala) c.749T>C (p.Val250Ala) c.1754T>C (p.Val585Ala) c.1208T>C (p.Val403Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168944882A>T | CA349127440 | ABCB11 | c.740T>A (p.Val247Glu) c.2423T>A (p.Val808Glu) c.1112T>A (n.1112T>A) c.2465T>A (p.Val822Glu) c.2525T>A (p.Val842Glu) c.749T>A (p.Val250Glu) c.1754T>A (p.Val585Glu) c.1208T>A (p.Val403Glu) | |
2 | g.168944883C>A | CA349127444 | ABCB11 | c.739G>T (p.Val247Leu) c.2422G>T (p.Val808Leu) c.1111G>T (n.1111G>T) c.2464G>T (p.Val822Leu) c.2524G>T (p.Val842Leu) c.748G>T (p.Val250Leu) c.1753G>T (p.Val585Leu) c.1207G>T (p.Val403Leu) | gnomAD v4 |
2 | g.168944883C>G | CA349127448 | ABCB11 | c.739G>C (p.Val247Leu) c.2422G>C (p.Val808Leu) c.1111G>C (n.1111G>C) c.2464G>C (p.Val822Leu) c.2524G>C (p.Val842Leu) c.748G>C (p.Val250Leu) c.1753G>C (p.Val585Leu) c.1207G>C (p.Val403Leu) | |
2 | g.168944883C>T | CA349127449 | ABCB11 | c.739G>A (p.Val247Ile) c.2422G>A (p.Val808Ile) c.1111G>A (n.1111G>A) c.2464G>A (p.Val822Ile) c.2524G>A (p.Val842Ile) c.748G>A (p.Val250Ile) c.1753G>A (p.Val585Ile) c.1207G>A (p.Val403Ile) | gnomAD v4 |
2 | g.168944884A>C | CA349127465 | ABCB11 | c.738T>G (p.Cys246Trp) c.2421T>G (p.Cys807Trp) c.1110T>G (n.1110T>G) c.2463T>G (p.Cys821Trp) c.2523T>G (p.Cys841Trp) c.747T>G (p.Cys249Trp) c.1752T>G (p.Cys584Trp) c.1206T>G (p.Cys402Trp) | |
2 | g.168944884A>G | CA429985392 | ABCB11 | c.738T>C (p.Cys246=) c.2421T>C (p.Cys807=) c.1110T>C (n.1110T>C) c.2463T>C (p.Cys821=) c.2523T>C (p.Cys841=) c.747T>C (p.Cys249=) c.1752T>C (p.Cys584=) c.1206T>C (p.Cys402=) | |
2 | g.168944884A>T | CA349127467 | ABCB11 | c.738T>A (p.Cys246Ter) c.2421T>A (p.Cys807Ter) c.1110T>A (n.1110T>A) c.2463T>A (p.Cys821Ter) c.2523T>A (p.Cys841Ter) c.747T>A (p.Cys249Ter) c.1752T>A (p.Cys584Ter) c.1206T>A (p.Cys402Ter) | |
2 | g.168944885C>A | CA349127484 | ABCB11 | c.737G>T (p.Cys246Phe) c.2420G>T (p.Cys807Phe) c.1109G>T (n.1109G>T) c.2462G>T (p.Cys821Phe) c.2522G>T (p.Cys841Phe) c.746G>T (p.Cys249Phe) c.1751G>T (p.Cys584Phe) c.1205G>T (p.Cys402Phe) | gnomAD v4 |
2 | g.168944885C>G | CA349127486 | ABCB11 | c.737G>C (p.Cys246Ser) c.2420G>C (p.Cys807Ser) c.1109G>C (n.1109G>C) c.2462G>C (p.Cys821Ser) c.2522G>C (p.Cys841Ser) c.746G>C (p.Cys249Ser) c.1751G>C (p.Cys584Ser) c.1205G>C (p.Cys402Ser) | |
2 | g.168944885C>T | CA349127488 | ABCB11 | c.737G>A (p.Cys246Tyr) c.2420G>A (p.Cys807Tyr) c.1109G>A (n.1109G>A) c.2462G>A (p.Cys821Tyr) c.2522G>A (p.Cys841Tyr) c.746G>A (p.Cys249Tyr) c.1751G>A (p.Cys584Tyr) c.1205G>A (p.Cys402Tyr) | gnomAD v4 |
2 | g.168944886A>C | CA349127510 | ABCB11 | c.736T>G (p.Cys246Gly) c.2419T>G (p.Cys807Gly) c.1108T>G (n.1108T>G) c.2461T>G (p.Cys821Gly) c.2521T>G (p.Cys841Gly) c.745T>G (p.Cys249Gly) c.1750T>G (p.Cys584Gly) c.1204T>G (p.Cys402Gly) | |
2 | g.168944886A>G | CA349127494 | ABCB11 | c.736T>C (p.Cys246Arg) c.2419T>C (p.Cys807Arg) c.1108T>C (n.1108T>C) c.2461T>C (p.Cys821Arg) c.2521T>C (p.Cys841Arg) c.745T>C (p.Cys249Arg) c.1750T>C (p.Cys584Arg) c.1204T>C (p.Cys402Arg) | gnomAD v4 |
2 | g.168944886A>T | CA349127493 | ABCB11 | c.736T>A (p.Cys246Ser) c.2419T>A (p.Cys807Ser) c.1108T>A (n.1108T>A) c.2461T>A (p.Cys821Ser) c.2521T>A (p.Cys841Ser) c.745T>A (p.Cys249Ser) c.1750T>A (p.Cys584Ser) c.1204T>A (p.Cys402Ser) | |
2 | g.168944887G>A | CA429985397 | ABCB11 | c.735C>T (p.Gly245=) c.2418C>T (p.Gly806=) c.1107C>T (n.1107C>T) c.2460C>T (p.Gly820=) c.2520C>T (p.Gly840=) c.744C>T (p.Gly248=) c.1749C>T (p.Gly583=) c.1203C>T (p.Gly401=) | ClinVar gnomAD v4 |
2 | g.168944887G>C | CA429985398 | ABCB11 | c.735C>G (p.Gly245=) c.2418C>G (p.Gly806=) c.1107C>G (n.1107C>G) c.2460C>G (p.Gly820=) c.2520C>G (p.Gly840=) c.744C>G (p.Gly248=) c.1749C>G (p.Gly583=) c.1203C>G (p.Gly401=) | |
2 | g.168944887G>T | CA429985401 | ABCB11 | c.735C>A (p.Gly245=) c.2418C>A (p.Gly806=) c.1107C>A (n.1107C>A) c.2460C>A (p.Gly820=) c.2520C>A (p.Gly840=) c.744C>A (p.Gly248=) c.1749C>A (p.Gly583=) c.1203C>A (p.Gly401=) | gnomAD v4 |
2 | g.168944888C>A | CA349127522 | ABCB11 | c.734G>T (p.Gly245Val) c.2417G>T (p.Gly806Val) c.1106G>T (n.1106G>T) c.2459G>T (p.Gly820Val) c.2519G>T (p.Gly840Val) c.743G>T (p.Gly248Val) c.1748G>T (p.Gly583Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
2 | g.168944888C= | CA1306207363 | ABCB11 | c.734G= (p.Gly245=) c.2417G= (p.Gly806=) c.1106G= (n.1106G=) c.2459G= (p.Gly820=) c.2519G= (p.Gly840=) c.743G= (p.Gly248=) c.1748G= (p.Gly583=) c.1202G= (p.Gly401=) | |
2 | g.168944888C>G | CA349127512 | ABCB11 | c.734G>C (p.Gly245Ala) c.2417G>C (p.Gly806Ala) c.1106G>C (n.1106G>C) c.2459G>C (p.Gly820Ala) c.2519G>C (p.Gly840Ala) c.743G>C (p.Gly248Ala) c.1748G>C (p.Gly583Ala) c.1202G>C (p.Gly401Ala) | gnomAD v4 |
2 | g.168944888C>T | CA349127518 | ABCB11 | c.734G>A (p.Gly245Asp) c.2417G>A (p.Gly806Asp) c.1106G>A (n.1106G>A) c.2459G>A (p.Gly820Asp) c.2519G>A (p.Gly840Asp) c.743G>A (p.Gly248Asp) c.1748G>A (p.Gly583Asp) c.1202G>A (p.Gly401Asp) | dbSNP gnomAD v4 |
2 | g.168944888_168944896del | CA2753094770 | ABCB11 | c.726_734del (p.Ala243_Gly245del) c.2409_2417del (p.Ala804_Gly806del) c.1098_1106del (n.1098_1106del) c.2451_2459del (p.Ala818_Gly820del) c.2511_2519del (p.Ala838_Gly840del) c.735_743del (p.Ala246_Gly248del) c.1740_1748del (p.Ala581_Gly583del) c.1194_1202del (p.Ala399_Gly401del) | |
2 | g.168944889C>A | CA349127524 | ABCB11 | c.733G>T (p.Gly245Cys) c.2416G>T (p.Gly806Cys) c.1105G>T (n.1105G>T) c.2458G>T (p.Gly820Cys) c.2518G>T (p.Gly840Cys) c.742G>T (p.Gly248Cys) c.1747G>T (p.Gly583Cys) c.1201G>T (p.Gly401Cys) | gnomAD v4 |
2 | g.168944889C>G | CA349127532 | ABCB11 | c.733G>C (p.Gly245Arg) c.2416G>C (p.Gly806Arg) c.1105G>C (n.1105G>C) c.2458G>C (p.Gly820Arg) c.2518G>C (p.Gly840Arg) c.742G>C (p.Gly248Arg) c.1747G>C (p.Gly583Arg) c.1201G>C (p.Gly401Arg) | |
2 | g.168944889C>T | CA349127535 | ABCB11 | c.733G>A (p.Gly245Ser) c.2416G>A (p.Gly806Ser) c.1105G>A (n.1105G>A) c.2458G>A (p.Gly820Ser) c.2518G>A (p.Gly840Ser) c.742G>A (p.Gly248Ser) c.1747G>A (p.Gly583Ser) c.1201G>A (p.Gly401Ser) | gnomAD v4 |
2 | g.168944890C>A | CA349127538 | ABCB11 | c.732G>T (p.Met244Ile) c.2415G>T (p.Met805Ile) c.1104G>T (n.1104G>T) c.2457G>T (p.Met819Ile) c.2517G>T (p.Met839Ile) c.741G>T (p.Met247Ile) c.1746G>T (p.Met582Ile) c.1200G>T (p.Met400Ile) | gnomAD v4 |
2 | g.168944890C>G | CA349127539 | ABCB11 | c.732G>C (p.Met244Ile) c.2415G>C (p.Met805Ile) c.1104G>C (n.1104G>C) c.2457G>C (p.Met819Ile) c.2517G>C (p.Met839Ile) c.741G>C (p.Met247Ile) c.1746G>C (p.Met582Ile) c.1200G>C (p.Met400Ile) | |
2 | g.168944890C>T | CA349127541 | ABCB11 | c.732G>A (p.Met244Ile) c.2415G>A (p.Met805Ile) c.1104G>A (n.1104G>A) c.2457G>A (p.Met819Ile) c.2517G>A (p.Met839Ile) c.741G>A (p.Met247Ile) c.1746G>A (p.Met582Ile) c.1200G>A (p.Met400Ile) | gnomAD v4 |
2 | g.168944891A>C | CA349127544 | ABCB11 | c.731T>G (p.Met244Arg) c.2414T>G (p.Met805Arg) c.1103T>G (n.1103T>G) c.2456T>G (p.Met819Arg) c.2516T>G (p.Met839Arg) c.740T>G (p.Met247Arg) c.1745T>G (p.Met582Arg) c.1199T>G (p.Met400Arg) | gnomAD v4 |
2 | g.168944891A>G | CA349127548 | ABCB11 | c.731T>C (p.Met244Thr) c.2414T>C (p.Met805Thr) c.1103T>C (n.1103T>C) c.2456T>C (p.Met819Thr) c.2516T>C (p.Met839Thr) c.740T>C (p.Met247Thr) c.1745T>C (p.Met582Thr) c.1199T>C (p.Met400Thr) | |
2 | g.168944891A>T | CA349127551 | ABCB11 | c.731T>A (p.Met244Lys) c.2414T>A (p.Met805Lys) c.1103T>A (n.1103T>A) c.2456T>A (p.Met819Lys) c.2516T>A (p.Met839Lys) c.740T>A (p.Met247Lys) c.1745T>A (p.Met582Lys) c.1199T>A (p.Met400Lys) | |
2 | g.168944892T>A | CA349127556 | ABCB11 | c.730A>T (p.Met244Leu) c.2413A>T (p.Met805Leu) c.1102A>T (n.1102A>T) c.2455A>T (p.Met819Leu) c.2515A>T (p.Met839Leu) c.739A>T (p.Met247Leu) c.1744A>T (p.Met582Leu) c.1198A>T (p.Met400Leu) | gnomAD v4 |
2 | g.168944892T>C | CA349127570 | ABCB11 | c.730A>G (p.Met244Val) c.2413A>G (p.Met805Val) c.1102A>G (n.1102A>G) c.2455A>G (p.Met819Val) c.2515A>G (p.Met839Val) c.739A>G (p.Met247Val) c.1744A>G (p.Met582Val) c.1198A>G (p.Met400Val) | ClinVar dbSNP gnomAD v4 |
2 | g.168944892T>G | CA349127571 | ABCB11 | c.730A>C (p.Met244Leu) c.2413A>C (p.Met805Leu) c.1102A>C (n.1102A>C) c.2455A>C (p.Met819Leu) c.2515A>C (p.Met839Leu) c.739A>C (p.Met247Leu) c.1744A>C (p.Met582Leu) c.1198A>C (p.Met400Leu) | |
2 | g.168944892T= | CA1306207365 | ABCB11 | c.730A= (p.Met244=) c.2413A= (p.Met805=) c.1102A= (n.1102A=) c.2455A= (p.Met819=) c.2515A= (p.Met839=) c.739A= (p.Met247=) c.1744A= (p.Met582=) c.1198A= (p.Met400=) | |
2 | g.168944893T>A | CA429985410 | ABCB11 | c.729A>T (p.Ala243=) c.2412A>T (p.Ala804=) c.1101A>T (n.1101A>T) c.2454A>T (p.Ala818=) c.2514A>T (p.Ala838=) c.738A>T (p.Ala246=) c.1743A>T (p.Ala581=) c.1197A>T (p.Ala399=) | |
2 | g.168944893T>C | CA1951288 | ABCB11 | c.729A>G (p.Ala243=) c.2412A>G (p.Ala804=) c.1101A>G (n.1101A>G) c.2454A>G (p.Ala818=) c.2514A>G (p.Ala838=) c.738A>G (p.Ala246=) c.1743A>G (p.Ala581=) c.1197A>G (p.Ala399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944893T>G | CA429985411 | ABCB11 | c.729A>C (p.Ala243=) c.2412A>C (p.Ala804=) c.1101A>C (n.1101A>C) c.2454A>C (p.Ala818=) c.2514A>C (p.Ala838=) c.738A>C (p.Ala246=) c.1743A>C (p.Ala581=) c.1197A>C (p.Ala399=) | |
2 | g.168944893T= | CA1306207372 | ABCB11 | c.729A= (p.Ala243=) c.2412A= (p.Ala804=) c.1101A= (n.1101A=) c.2454A= (p.Ala818=) c.2514A= (p.Ala838=) c.738A= (p.Ala246=) c.1743A= (p.Ala581=) c.1197A= (p.Ala399=) | |
2 | g.168944894G>A | CA349127573 | ABCB11 | c.728C>T (p.Ala243Val) c.2411C>T (p.Ala804Val) c.1100C>T (n.1100C>T) c.2453C>T (p.Ala818Val) c.2513C>T (p.Ala838Val) c.737C>T (p.Ala246Val) c.1742C>T (p.Ala581Val) c.1196C>T (p.Ala399Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944894G>C | CA349127575 | ABCB11 | c.728C>G (p.Ala243Gly) c.2411C>G (p.Ala804Gly) c.1100C>G (n.1100C>G) c.2453C>G (p.Ala818Gly) c.2513C>G (p.Ala838Gly) c.737C>G (p.Ala246Gly) c.1742C>G (p.Ala581Gly) c.1196C>G (p.Ala399Gly) | |
2 | g.168944894G= | CA1306207376 | ABCB11 | c.728C= (p.Ala243=) c.2411C= (p.Ala804=) c.1100C= (n.1100C=) c.2453C= (p.Ala818=) c.2513C= (p.Ala838=) c.737C= (p.Ala246=) c.1742C= (p.Ala581=) c.1196C= (p.Ala399=) | |
2 | g.168944894G>T | CA349127577 | ABCB11 | c.728C>A (p.Ala243Glu) c.2411C>A (p.Ala804Glu) c.1100C>A (n.1100C>A) c.2453C>A (p.Ala818Glu) c.2513C>A (p.Ala838Glu) c.737C>A (p.Ala246Glu) c.1742C>A (p.Ala581Glu) c.1196C>A (p.Ala399Glu) | gnomAD v4 |
2 | g.168944895C>A | CA349127583 | ABCB11 | c.727G>T (p.Ala243Ser) c.2410G>T (p.Ala804Ser) c.1099G>T (n.1099G>T) c.2452G>T (p.Ala818Ser) c.2512G>T (p.Ala838Ser) c.736G>T (p.Ala246Ser) c.1741G>T (p.Ala581Ser) c.1195G>T (p.Ala399Ser) | gnomAD v4 |
2 | g.168944895C>G | CA349127585 | ABCB11 | c.727G>C (p.Ala243Pro) c.2410G>C (p.Ala804Pro) c.1099G>C (n.1099G>C) c.2452G>C (p.Ala818Pro) c.2512G>C (p.Ala838Pro) c.736G>C (p.Ala246Pro) c.1741G>C (p.Ala581Pro) c.1195G>C (p.Ala399Pro) | |
2 | g.168944895C>T | CA349127587 | ABCB11 | c.727G>A (p.Ala243Thr) c.2410G>A (p.Ala804Thr) c.1099G>A (n.1099G>A) c.2452G>A (p.Ala818Thr) c.2512G>A (p.Ala838Thr) c.736G>A (p.Ala246Thr) c.1741G>A (p.Ala581Thr) c.1195G>A (p.Ala399Thr) | gnomAD v4 |
2 | g.168944896T>A | CA429985415 | ABCB11 | c.726A>T (p.Val242=) c.2409A>T (p.Val803=) c.1098A>T (n.1098A>T) c.2451A>T (p.Val817=) c.2511A>T (p.Val837=) c.735A>T (p.Val245=) c.1740A>T (p.Val580=) c.1194A>T (p.Val398=) | gnomAD v4 |
2 | g.168944896T>C | CA429985416 | ABCB11 | c.726A>G (p.Val242=) c.2409A>G (p.Val803=) c.1098A>G (n.1098A>G) c.2451A>G (p.Val817=) c.2511A>G (p.Val837=) c.735A>G (p.Val245=) c.1740A>G (p.Val580=) c.1194A>G (p.Val398=) | ClinVar gnomAD v4 |
2 | g.168944896T>G | CA429985418 | ABCB11 | c.726A>C (p.Val242=) c.2409A>C (p.Val803=) c.1098A>C (n.1098A>C) c.2451A>C (p.Val817=) c.2511A>C (p.Val837=) c.735A>C (p.Val245=) c.1740A>C (p.Val580=) c.1194A>C (p.Val398=) | |
2 | g.168944897A>C | CA349127594 | ABCB11 | c.725T>G (p.Val242Gly) c.2408T>G (p.Val803Gly) c.1097T>G (n.1097T>G) c.2450T>G (p.Val817Gly) c.2510T>G (p.Val837Gly) c.734T>G (p.Val245Gly) c.1739T>G (p.Val580Gly) c.1193T>G (p.Val398Gly) | |
2 | g.168944897A>G | CA349127600 | ABCB11 | c.725T>C (p.Val242Ala) c.2408T>C (p.Val803Ala) c.1097T>C (n.1097T>C) c.2450T>C (p.Val817Ala) c.2510T>C (p.Val837Ala) c.734T>C (p.Val245Ala) c.1739T>C (p.Val580Ala) c.1193T>C (p.Val398Ala) | |
2 | g.168944897A>T | CA349127602 | ABCB11 | c.725T>A (p.Val242Glu) c.2408T>A (p.Val803Glu) c.1097T>A (n.1097T>A) c.2450T>A (p.Val817Glu) c.2510T>A (p.Val837Glu) c.734T>A (p.Val245Glu) c.1739T>A (p.Val580Glu) c.1193T>A (p.Val398Glu) | |
2 | g.168944898C>A | CA349127605 | ABCB11 | c.724G>T (p.Val242Leu) c.2407G>T (p.Val803Leu) c.1096G>T (n.1096G>T) c.2449G>T (p.Val817Leu) c.2509G>T (p.Val837Leu) c.733G>T (p.Val245Leu) c.1738G>T (p.Val580Leu) c.1192G>T (p.Val398Leu) | gnomAD v4 |
2 | g.168944898C>G | CA349127606 | ABCB11 | c.724G>C (p.Val242Leu) c.2407G>C (p.Val803Leu) c.1096G>C (n.1096G>C) c.2449G>C (p.Val817Leu) c.2509G>C (p.Val837Leu) c.733G>C (p.Val245Leu) c.1738G>C (p.Val580Leu) c.1192G>C (p.Val398Leu) | |
2 | g.168944898C>T | CA349127608 | ABCB11 | c.724G>A (p.Val242Ile) c.2407G>A (p.Val803Ile) c.1096G>A (n.1096G>A) c.2449G>A (p.Val817Ile) c.2509G>A (p.Val837Ile) c.733G>A (p.Val245Ile) c.1738G>A (p.Val580Ile) c.1192G>A (p.Val398Ile) | |
2 | g.168944899A= | CA1306207380 | ABCB11 | c.723T= (p.Phe241=) c.2406T= (p.Phe802=) c.1095T= (n.1095T=) c.2448T= (p.Phe816=) c.2508T= (p.Phe836=) c.732T= (p.Phe244=) c.1737T= (p.Phe579=) c.1191T= (p.Phe397=) | |
2 | g.168944899A>C | CA59881000 | ABCB11 | c.723T>G (p.Phe241Leu) c.2406T>G (p.Phe802Leu) c.1095T>G (n.1095T>G) c.2448T>G (p.Phe816Leu) c.2508T>G (p.Phe836Leu) c.732T>G (p.Phe244Leu) c.1737T>G (p.Phe579Leu) c.1191T>G (p.Phe397Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944899A>G | CA429985421 | ABCB11 | c.723T>C (p.Phe241=) c.2406T>C (p.Phe802=) c.1095T>C (n.1095T>C) c.2448T>C (p.Phe816=) c.2508T>C (p.Phe836=) c.732T>C (p.Phe244=) c.1737T>C (p.Phe579=) c.1191T>C (p.Phe397=) | |
2 | g.168944899A>T | CA349127610 | ABCB11 | c.723T>A (p.Phe241Leu) c.2406T>A (p.Phe802Leu) c.1095T>A (n.1095T>A) c.2448T>A (p.Phe816Leu) c.2508T>A (p.Phe836Leu) c.732T>A (p.Phe244Leu) c.1737T>A (p.Phe579Leu) c.1191T>A (p.Phe397Leu) | |
2 | g.168944903del | CA2661805177 | ABCB11 | c.723del (p.Phe241LeufsTer2) c.2406del (p.Phe802LeufsTer2) c.1095del (n.1095del) c.2448del (p.Phe816LeufsTer2) c.2508del (p.Phe836LeufsTer2) c.732del (p.Phe244LeufsTer2) c.1737del (p.Phe579LeufsTer2) c.1191del (p.Phe397LeufsTer2) | gnomAD v4 |
2 | g.168944899_168944904del | CA2661805178 | ABCB11 | c.718_723del (p.Leu240_Phe241del) c.2401_2406del (p.Leu801_Phe802del) c.1090_1095del (n.1090_1095del) c.2443_2448del (p.Leu815_Phe816del) c.2503_2508del (p.Leu835_Phe836del) c.727_732del (p.Leu243_Phe244del) c.1732_1737del (p.Leu578_Phe579del) c.1186_1191del (p.Leu396_Phe397del) | gnomAD v4 |
2 | g.168944900A>C | CA349127612 | ABCB11 | c.722T>G (p.Phe241Cys) c.2405T>G (p.Phe802Cys) c.1094T>G (n.1094T>G) c.2447T>G (p.Phe816Cys) c.2507T>G (p.Phe836Cys) c.731T>G (p.Phe244Cys) c.1736T>G (p.Phe579Cys) c.1190T>G (p.Phe397Cys) | |
2 | g.168944900A>G | CA349127613 | ABCB11 | c.722T>C (p.Phe241Ser) c.2405T>C (p.Phe802Ser) c.1094T>C (n.1094T>C) c.2447T>C (p.Phe816Ser) c.2507T>C (p.Phe836Ser) c.731T>C (p.Phe244Ser) c.1736T>C (p.Phe579Ser) c.1190T>C (p.Phe397Ser) | gnomAD v4 |
2 | g.168944900A>T | CA349127611 | ABCB11 | c.722T>A (p.Phe241Tyr) c.2405T>A (p.Phe802Tyr) c.1094T>A (n.1094T>A) c.2447T>A (p.Phe816Tyr) c.2507T>A (p.Phe836Tyr) c.731T>A (p.Phe244Tyr) c.1736T>A (p.Phe579Tyr) c.1190T>A (p.Phe397Tyr) | |
2 | g.168944901A>C | CA349127616 | ABCB11 | c.721T>G (p.Phe241Val) c.2404T>G (p.Phe802Val) c.1093T>G (n.1093T>G) c.2446T>G (p.Phe816Val) c.2506T>G (p.Phe836Val) c.730T>G (p.Phe244Val) c.1735T>G (p.Phe579Val) c.1189T>G (p.Phe397Val) | |
2 | g.168944901A>G | CA349127620 | ABCB11 | c.721T>C (p.Phe241Leu) c.2404T>C (p.Phe802Leu) c.1093T>C (n.1093T>C) c.2446T>C (p.Phe816Leu) c.2506T>C (p.Phe836Leu) c.730T>C (p.Phe244Leu) c.1735T>C (p.Phe579Leu) c.1189T>C (p.Phe397Leu) | gnomAD v4 |
2 | g.168944901A>T | CA349127619 | ABCB11 | c.721T>A (p.Phe241Ile) c.2404T>A (p.Phe802Ile) c.1093T>A (n.1093T>A) c.2446T>A (p.Phe816Ile) c.2506T>A (p.Phe836Ile) c.730T>A (p.Phe244Ile) c.1735T>A (p.Phe579Ile) c.1189T>A (p.Phe397Ile) | |
2 | g.168944902A= | CA1306207383 | ABCB11 | c.720T= (p.Leu240=) c.2403T= (p.Leu801=) c.1092T= (n.1092T=) c.2445T= (p.Leu815=) c.2505T= (p.Leu835=) c.729T= (p.Leu243=) c.1734T= (p.Leu578=) c.1188T= (p.Leu396=) | |
2 | g.168944902A>C | CA429985423 | ABCB11 | c.720T>G (p.Leu240=) c.2403T>G (p.Leu801=) c.1092T>G (n.1092T>G) c.2445T>G (p.Leu815=) c.2505T>G (p.Leu835=) c.729T>G (p.Leu243=) c.1734T>G (p.Leu578=) c.1188T>G (p.Leu396=) | |
2 | g.168944902A>G | CA429985425 | ABCB11 | c.720T>C (p.Leu240=) c.2403T>C (p.Leu801=) c.1092T>C (n.1092T>C) c.2445T>C (p.Leu815=) c.2505T>C (p.Leu835=) c.729T>C (p.Leu243=) c.1734T>C (p.Leu578=) c.1188T>C (p.Leu396=) | dbSNP gnomAD v2 |
2 | g.168944902A>T | CA429985427 | ABCB11 | c.720T>A (p.Leu240=) c.2403T>A (p.Leu801=) c.1092T>A (n.1092T>A) c.2445T>A (p.Leu815=) c.2505T>A (p.Leu835=) c.729T>A (p.Leu243=) c.1734T>A (p.Leu578=) c.1188T>A (p.Leu396=) | |
2 | g.168944903A= | CA1306207385 | ABCB11 | c.719T= (p.Leu240=) c.2402T= (p.Leu801=) c.1091T= (n.1091T=) c.2444T= (p.Leu815=) c.2504T= (p.Leu835=) c.728T= (p.Leu243=) c.1733T= (p.Leu578=) c.1187T= (p.Leu396=) | |
2 | g.168944903A>C | CA1951289 | ABCB11 | c.719T>G (p.Leu240Arg) c.2402T>G (p.Leu801Arg) c.1091T>G (n.1091T>G) c.2444T>G (p.Leu815Arg) c.2504T>G (p.Leu835Arg) c.728T>G (p.Leu243Arg) c.1733T>G (p.Leu578Arg) c.1187T>G (p.Leu396Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168944903A>G | CA349127624 | ABCB11 | c.719T>C (p.Leu240Pro) c.2402T>C (p.Leu801Pro) c.1091T>C (n.1091T>C) c.2444T>C (p.Leu815Pro) c.2504T>C (p.Leu835Pro) c.728T>C (p.Leu243Pro) c.1733T>C (p.Leu578Pro) c.1187T>C (p.Leu396Pro) | |
2 | g.168944903A>T | CA349127622 | ABCB11 | c.719T>A (p.Leu240His) c.2402T>A (p.Leu801His) c.1091T>A (n.1091T>A) c.2444T>A (p.Leu815His) c.2504T>A (p.Leu835His) c.728T>A (p.Leu243His) c.1733T>A (p.Leu578His) c.1187T>A (p.Leu396His) | |
2 | g.168944904G>A | CA349127626 | ABCB11 | c.718C>T (p.Leu240Phe) c.2401C>T (p.Leu801Phe) c.1090C>T (n.1090C>T) c.2443C>T (p.Leu815Phe) c.2503C>T (p.Leu835Phe) c.727C>T (p.Leu243Phe) c.1732C>T (p.Leu578Phe) c.1186C>T (p.Leu396Phe) | gnomAD v4 |
2 | g.168944904G>C | CA349127629 | ABCB11 | c.718C>G (p.Leu240Val) c.2401C>G (p.Leu801Val) c.1090C>G (n.1090C>G) c.2443C>G (p.Leu815Val) c.2503C>G (p.Leu835Val) c.727C>G (p.Leu243Val) c.1732C>G (p.Leu578Val) c.1186C>G (p.Leu396Val) | |
2 | g.168944904G>T | CA349127637 | ABCB11 | c.718C>A (p.Leu240Ile) c.2401C>A (p.Leu801Ile) c.1090C>A (n.1090C>A) c.2443C>A (p.Leu815Ile) c.2503C>A (p.Leu835Ile) c.727C>A (p.Leu243Ile) c.1732C>A (p.Leu578Ile) c.1186C>A (p.Leu396Ile) | gnomAD v4 |
2 | g.168944905T>A | CA429985428 | ABCB11 | c.717A>T (p.Leu239=) c.2400A>T (p.Leu800=) c.1089A>T (n.1089A>T) c.2442A>T (p.Leu814=) c.2502A>T (p.Leu834=) c.726A>T (p.Leu242=) c.1731A>T (p.Leu577=) c.1185A>T (p.Leu395=) | |
2 | g.168944905T>C | CA429985429 | ABCB11 | c.717A>G (p.Leu239=) c.2400A>G (p.Leu800=) c.1089A>G (n.1089A>G) c.2442A>G (p.Leu814=) c.2502A>G (p.Leu834=) c.726A>G (p.Leu242=) c.1731A>G (p.Leu577=) c.1185A>G (p.Leu395=) | |
2 | g.168944905T>G | CA429985431 | ABCB11 | c.717A>C (p.Leu239=) c.2400A>C (p.Leu800=) c.1089A>C (n.1089A>C) c.2442A>C (p.Leu814=) c.2502A>C (p.Leu834=) c.726A>C (p.Leu242=) c.1731A>C (p.Leu577=) c.1185A>C (p.Leu395=) | |
2 | g.168944906A>C | CA349127638 | ABCB11 | c.716T>G (p.Leu239Arg) c.2399T>G (p.Leu800Arg) c.1088T>G (n.1088T>G) c.2441T>G (p.Leu814Arg) c.2501T>G (p.Leu834Arg) c.725T>G (p.Leu242Arg) c.1730T>G (p.Leu577Arg) c.1184T>G (p.Leu395Arg) | |
2 | g.168944906A>G | CA349127641 | ABCB11 | c.716T>C (p.Leu239Pro) c.2399T>C (p.Leu800Pro) c.1088T>C (n.1088T>C) c.2441T>C (p.Leu814Pro) c.2501T>C (p.Leu834Pro) c.725T>C (p.Leu242Pro) c.1730T>C (p.Leu577Pro) c.1184T>C (p.Leu395Pro) | gnomAD v4 COSMIC COSMIC |
2 | g.168944906A>T | CA349127643 | ABCB11 | c.716T>A (p.Leu239Gln) c.2399T>A (p.Leu800Gln) c.1088T>A (n.1088T>A) c.2441T>A (p.Leu814Gln) c.2501T>A (p.Leu834Gln) c.725T>A (p.Leu242Gln) c.1730T>A (p.Leu577Gln) c.1184T>A (p.Leu395Gln) | gnomAD v4 |
2 | g.168944907_168944914del | CA2661805193 | ABCB11 | c.709_716del (p.Val237ThrfsTer22) c.2392_2399del (p.Val798ThrfsTer22) c.1081_1088del (n.1081_1088del) c.2434_2441del (p.Val812ThrfsTer22) c.2494_2501del (p.Val832ThrfsTer22) c.718_725del (p.Val240ThrfsTer22) c.1723_1730del (p.Val575ThrfsTer22) c.1177_1184del (p.Val393ThrfsTer22) | gnomAD v4 |
2 | g.168944907G>A | CA429985433 | ABCB11 | c.715C>T (p.Leu239=) c.2398C>T (p.Leu800=) c.1087C>T (n.1087C>T) c.2440C>T (p.Leu814=) c.2500C>T (p.Leu834=) c.724C>T (p.Leu242=) c.1729C>T (p.Leu577=) c.1183C>T (p.Leu395=) | |
2 | g.168944907G>C | CA349127647 | ABCB11 | c.715C>G (p.Leu239Val) c.2398C>G (p.Leu800Val) c.1087C>G (n.1087C>G) c.2440C>G (p.Leu814Val) c.2500C>G (p.Leu834Val) c.724C>G (p.Leu242Val) c.1729C>G (p.Leu577Val) c.1183C>G (p.Leu395Val) | |
2 | g.168944907G>T | CA349127648 | ABCB11 | c.715C>A (p.Leu239Ile) c.2398C>A (p.Leu800Ile) c.1087C>A (n.1087C>A) c.2440C>A (p.Leu814Ile) c.2500C>A (p.Leu834Ile) c.724C>A (p.Leu242Ile) c.1729C>A (p.Leu577Ile) c.1183C>A (p.Leu395Ile) | gnomAD v4 |
2 | g.168944908G>A | CA429985434 | ABCB11 | c.714C>T (p.Cys238=) c.2397C>T (p.Cys799=) c.1086C>T (n.1086C>T) c.2439C>T (p.Cys813=) c.2499C>T (p.Cys833=) c.723C>T (p.Cys241=) c.1728C>T (p.Cys576=) c.1182C>T (p.Cys394=) | gnomAD v4 |
2 | g.168944908G>C | CA349127649 | ABCB11 | c.714C>G (p.Cys238Trp) c.2397C>G (p.Cys799Trp) c.1086C>G (n.1086C>G) c.2439C>G (p.Cys813Trp) c.2499C>G (p.Cys833Trp) c.723C>G (p.Cys241Trp) c.1728C>G (p.Cys576Trp) c.1182C>G (p.Cys394Trp) | |
2 | g.168944908G>T | CA349127650 | ABCB11 | c.714C>A (p.Cys238Ter) c.2397C>A (p.Cys799Ter) c.1086C>A (n.1086C>A) c.2439C>A (p.Cys813Ter) c.2499C>A (p.Cys833Ter) c.723C>A (p.Cys241Ter) c.1728C>A (p.Cys576Ter) c.1182C>A (p.Cys394Ter) | |
2 | g.168944909C>A | CA349127654 | ABCB11 | c.713G>T (p.Cys238Phe) c.2396G>T (p.Cys799Phe) c.1085G>T (n.1085G>T) c.2438G>T (p.Cys813Phe) c.2498G>T (p.Cys833Phe) c.722G>T (p.Cys241Phe) c.1727G>T (p.Cys576Phe) c.1181G>T (p.Cys394Phe) | gnomAD v4 |
2 | g.168944909C>G | CA349127661 | ABCB11 | c.713G>C (p.Cys238Ser) c.2396G>C (p.Cys799Ser) c.1085G>C (n.1085G>C) c.2438G>C (p.Cys813Ser) c.2498G>C (p.Cys833Ser) c.722G>C (p.Cys241Ser) c.1727G>C (p.Cys576Ser) c.1181G>C (p.Cys394Ser) | |
2 | g.168944909C>T | CA349127663 | ABCB11 | c.713G>A (p.Cys238Tyr) c.2396G>A (p.Cys799Tyr) c.1085G>A (n.1085G>A) c.2438G>A (p.Cys813Tyr) c.2498G>A (p.Cys833Tyr) c.722G>A (p.Cys241Tyr) c.1727G>A (p.Cys576Tyr) c.1181G>A (p.Cys394Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168944910A>C | CA349127675 | ABCB11 | c.712T>G (p.Cys238Gly) c.2395T>G (p.Cys799Gly) c.1084T>G (n.1084T>G) c.2437T>G (p.Cys813Gly) c.2497T>G (p.Cys833Gly) c.721T>G (p.Cys241Gly) c.1726T>G (p.Cys576Gly) c.1180T>G (p.Cys394Gly) | |
2 | g.168944910A>G | CA349127680 | ABCB11 | c.712T>C (p.Cys238Arg) c.2395T>C (p.Cys799Arg) c.1084T>C (n.1084T>C) c.2437T>C (p.Cys813Arg) c.2497T>C (p.Cys833Arg) c.721T>C (p.Cys241Arg) c.1726T>C (p.Cys576Arg) c.1180T>C (p.Cys394Arg) | gnomAD v4 |
2 | g.168944910A>T | CA349127679 | ABCB11 | c.712T>A (p.Cys238Ser) c.2395T>A (p.Cys799Ser) c.1084T>A (n.1084T>A) c.2437T>A (p.Cys813Ser) c.2497T>A (p.Cys833Ser) c.721T>A (p.Cys241Ser) c.1726T>A (p.Cys576Ser) c.1180T>A (p.Cys394Ser) | |
2 | g.168944911C>A | CA429985438 | ABCB11 | c.711G>T (p.Val237=) c.2394G>T (p.Val798=) c.1083G>T (n.1083G>T) c.2436G>T (p.Val812=) c.2496G>T (p.Val832=) c.720G>T (p.Val240=) c.1725G>T (p.Val575=) c.1179G>T (p.Val393=) | gnomAD v4 |
2 | g.168944911C>G | CA429985440 | ABCB11 | c.711G>C (p.Val237=) c.2394G>C (p.Val798=) c.1083G>C (n.1083G>C) c.2436G>C (p.Val812=) c.2496G>C (p.Val832=) c.720G>C (p.Val240=) c.1725G>C (p.Val575=) c.1179G>C (p.Val393=) | |
2 | g.168944911C>T | CA429985441 | ABCB11 | c.711G>A (p.Val237=) c.2394G>A (p.Val798=) c.1083G>A (n.1083G>A) c.2436G>A (p.Val812=) c.2496G>A (p.Val832=) c.720G>A (p.Val240=) c.1725G>A (p.Val575=) c.1179G>A (p.Val393=) | ClinVar dbSNP gnomAD v4 |
2 | g.168944912A>C | CA349127692 | ABCB11 | c.710T>G (p.Val237Gly) c.2393T>G (p.Val798Gly) c.1082T>G (n.1082T>G) c.2435T>G (p.Val812Gly) c.2495T>G (p.Val832Gly) c.719T>G (p.Val240Gly) c.1724T>G (p.Val575Gly) c.1178T>G (p.Val393Gly) | |
2 | g.168944912A>G | CA349127694 | ABCB11 | c.710T>C (p.Val237Ala) c.2393T>C (p.Val798Ala) c.1082T>C (n.1082T>C) c.2435T>C (p.Val812Ala) c.2495T>C (p.Val832Ala) c.719T>C (p.Val240Ala) c.1724T>C (p.Val575Ala) c.1178T>C (p.Val393Ala) | gnomAD v4 |
2 | g.168944912A>T | CA349127699 | ABCB11 | c.710T>A (p.Val237Glu) c.2393T>A (p.Val798Glu) c.1082T>A (n.1082T>A) c.2435T>A (p.Val812Glu) c.2495T>A (p.Val832Glu) c.719T>A (p.Val240Glu) c.1724T>A (p.Val575Glu) c.1178T>A (p.Val393Glu) | |
2 | g.168944913C>A | CA349127703 | ABCB11 | c.709G>T (p.Val237Leu) c.2392G>T (p.Val798Leu) c.1081G>T (n.1081G>T) c.2434G>T (p.Val812Leu) c.2494G>T (p.Val832Leu) c.718G>T (p.Val240Leu) c.1723G>T (p.Val575Leu) c.1177G>T (p.Val393Leu) | gnomAD v4 |
2 | g.168944913C>G | CA349127705 | ABCB11 | c.709G>C (p.Val237Leu) c.2392G>C (p.Val798Leu) c.1081G>C (n.1081G>C) c.2434G>C (p.Val812Leu) c.2494G>C (p.Val832Leu) c.718G>C (p.Val240Leu) c.1723G>C (p.Val575Leu) c.1177G>C (p.Val393Leu) | |
2 | g.168944913C>T | CA349127706 | ABCB11 | c.709G>A (p.Val237Met) c.2392G>A (p.Val798Met) c.1081G>A (n.1081G>A) c.2434G>A (p.Val812Met) c.2494G>A (p.Val832Met) c.718G>A (p.Val240Met) c.1723G>A (p.Val575Met) c.1177G>A (p.Val393Met) | gnomAD v4 |
2 | g.168944914A>C | CA429985442 | ABCB11 | c.708T>G (p.Gly236=) c.2391T>G (p.Gly797=) c.1080T>G (n.1080T>G) c.2433T>G (p.Gly811=) c.2493T>G (p.Gly831=) c.717T>G (p.Gly239=) c.1722T>G (p.Gly574=) c.1176T>G (p.Gly392=) | |
2 | g.168944914A>G | CA429985443 | ABCB11 | c.708T>C (p.Gly236=) c.2391T>C (p.Gly797=) c.1080T>C (n.1080T>C) c.2433T>C (p.Gly811=) c.2493T>C (p.Gly831=) c.717T>C (p.Gly239=) c.1722T>C (p.Gly574=) c.1176T>C (p.Gly392=) | gnomAD v4 |
2 | g.168944914A>T | CA429985444 | ABCB11 | c.708T>A (p.Gly236=) c.2391T>A (p.Gly797=) c.1080T>A (n.1080T>A) c.2433T>A (p.Gly811=) c.2493T>A (p.Gly831=) c.717T>A (p.Gly239=) c.1722T>A (p.Gly574=) c.1176T>A (p.Gly392=) | gnomAD v4 |
2 | g.168944915C>A | CA349127710 | ABCB11 | c.707G>T (p.Gly236Val) c.2390G>T (p.Gly797Val) c.1079G>T (n.1079G>T) c.2432G>T (p.Gly811Val) c.2492G>T (p.Gly831Val) c.716G>T (p.Gly239Val) c.1721G>T (p.Gly574Val) c.1175G>T (p.Gly392Val) | gnomAD v4 |
2 | g.168944915C>G | CA349127718 | ABCB11 | c.707G>C (p.Gly236Ala) c.2390G>C (p.Gly797Ala) c.1079G>C (n.1079G>C) c.2432G>C (p.Gly811Ala) c.2492G>C (p.Gly831Ala) c.716G>C (p.Gly239Ala) c.1721G>C (p.Gly574Ala) c.1175G>C (p.Gly392Ala) | gnomAD v4 |
2 | g.168944915C>T | CA349127739 | ABCB11 | c.707G>A (p.Gly236Asp) c.2390G>A (p.Gly797Asp) c.1079G>A (n.1079G>A) c.2432G>A (p.Gly811Asp) c.2492G>A (p.Gly831Asp) c.716G>A (p.Gly239Asp) c.1721G>A (p.Gly574Asp) c.1175G>A (p.Gly392Asp) | gnomAD v4 |
2 | g.168944916C>A | CA349127758 | ABCB11 | c.706G>T (p.Gly236Cys) c.2389G>T (p.Gly797Cys) c.1078G>T (n.1078G>T) c.2431G>T (p.Gly811Cys) c.2491G>T (p.Gly831Cys) c.715G>T (p.Gly239Cys) c.1720G>T (p.Gly574Cys) c.1174G>T (p.Gly392Cys) | gnomAD v4 |
2 | g.168944916C>G | CA349127744 | ABCB11 | c.706G>C (p.Gly236Arg) c.2389G>C (p.Gly797Arg) c.1078G>C (n.1078G>C) c.2431G>C (p.Gly811Arg) c.2491G>C (p.Gly831Arg) c.715G>C (p.Gly239Arg) c.1720G>C (p.Gly574Arg) c.1174G>C (p.Gly392Arg) | gnomAD v4 |
2 | g.168944916C>T | CA349127741 | ABCB11 | c.706G>A (p.Gly236Ser) c.2389G>A (p.Gly797Ser) c.1078G>A (n.1078G>A) c.2431G>A (p.Gly811Ser) c.2491G>A (p.Gly831Ser) c.715G>A (p.Gly239Ser) c.1720G>A (p.Gly574Ser) c.1174G>A (p.Gly392Ser) | gnomAD v4 |
2 | g.168944917A>C | CA349127764 | ABCB11 | c.705T>G (p.Asn235Lys) c.2388T>G (p.Asn796Lys) c.1077T>G (n.1077T>G) c.2430T>G (p.Asn810Lys) c.2490T>G (p.Asn830Lys) c.714T>G (p.Asn238Lys) c.1719T>G (p.Asn573Lys) c.1173T>G (p.Asn391Lys) | |
2 | g.168944917A>G | CA429985445 | ABCB11 | c.705T>C (p.Asn235=) c.2388T>C (p.Asn796=) c.1077T>C (n.1077T>C) c.2430T>C (p.Asn810=) c.2490T>C (p.Asn830=) c.714T>C (p.Asn238=) c.1719T>C (p.Asn573=) c.1173T>C (p.Asn391=) | gnomAD v4 |
2 | g.168944917A>T | CA349127766 | ABCB11 | c.705T>A (p.Asn235Lys) c.2388T>A (p.Asn796Lys) c.1077T>A (n.1077T>A) c.2430T>A (p.Asn810Lys) c.2490T>A (p.Asn830Lys) c.714T>A (p.Asn238Lys) c.1719T>A (p.Asn573Lys) c.1173T>A (p.Asn391Lys) | gnomAD v4 |
2 | g.168944918T>A | CA349127782 | ABCB11 | c.704A>T (p.Asn235Ile) c.2387A>T (p.Asn796Ile) c.1076A>T (n.1076A>T) c.2429A>T (p.Asn810Ile) c.2489A>T (p.Asn830Ile) c.713A>T (p.Asn238Ile) c.1718A>T (p.Asn573Ile) c.1172A>T (p.Asn391Ile) | |
2 | g.168944918T>C | CA349127783 | ABCB11 | c.704A>G (p.Asn235Ser) c.2387A>G (p.Asn796Ser) c.1076A>G (n.1076A>G) c.2429A>G (p.Asn810Ser) c.2489A>G (p.Asn830Ser) c.713A>G (p.Asn238Ser) c.1718A>G (p.Asn573Ser) c.1172A>G (p.Asn391Ser) | gnomAD v4 |
2 | g.168944918T>G | CA349127784 | ABCB11 | c.704A>C (p.Asn235Thr) c.2387A>C (p.Asn796Thr) c.1076A>C (n.1076A>C) c.2429A>C (p.Asn810Thr) c.2489A>C (p.Asn830Thr) c.713A>C (p.Asn238Thr) c.1718A>C (p.Asn573Thr) c.1172A>C (p.Asn391Thr) | |
2 | g.168944919T>A | CA349127792 | ABCB11 | c.703A>T (p.Asn235Tyr) c.2386A>T (p.Asn796Tyr) c.1075A>T (n.1075A>T) c.2428A>T (p.Asn810Tyr) c.2488A>T (p.Asn830Tyr) c.712A>T (p.Asn238Tyr) c.1717A>T (p.Asn573Tyr) c.1171A>T (p.Asn391Tyr) | |
2 | g.168944919T>C | CA349127794 | ABCB11 | c.703A>G (p.Asn235Asp) c.2386A>G (p.Asn796Asp) c.1075A>G (n.1075A>G) c.2428A>G (p.Asn810Asp) c.2488A>G (p.Asn830Asp) c.712A>G (p.Asn238Asp) c.1717A>G (p.Asn573Asp) c.1171A>G (p.Asn391Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944919T>G | CA349127797 | ABCB11 | c.703A>C (p.Asn235His) c.2386A>C (p.Asn796His) c.1075A>C (n.1075A>C) c.2428A>C (p.Asn810His) c.2488A>C (p.Asn830His) c.712A>C (p.Asn238His) c.1717A>C (p.Asn573His) c.1171A>C (p.Asn391His) | |
2 | g.168944919T= | CA1306207388 | ABCB11 | c.703A= (p.Asn235=) c.2386A= (p.Asn796=) c.1075A= (n.1075A=) c.2428A= (p.Asn810=) c.2488A= (p.Asn830=) c.712A= (p.Asn238=) c.1717A= (p.Asn573=) c.1171A= (p.Asn391=) | |
2 | g.168944920G>A | CA429985449 | ABCB11 | c.702C>T (p.Ile234=) c.2385C>T (p.Ile795=) c.1074C>T (n.1074C>T) c.2427C>T (p.Ile809=) c.2487C>T (p.Ile829=) c.711C>T (p.Ile237=) c.1716C>T (p.Ile572=) c.1170C>T (p.Ile390=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944920G>C | CA349127799 | ABCB11 | c.702C>G (p.Ile234Met) c.2385C>G (p.Ile795Met) c.1074C>G (n.1074C>G) c.2427C>G (p.Ile809Met) c.2487C>G (p.Ile829Met) c.711C>G (p.Ile237Met) c.1716C>G (p.Ile572Met) c.1170C>G (p.Ile390Met) | gnomAD v4 |
2 | g.168944920G= | CA1306207390 | ABCB11 | c.702C= (p.Ile234=) c.2385C= (p.Ile795=) c.1074C= (n.1074C=) c.2427C= (p.Ile809=) c.2487C= (p.Ile829=) c.711C= (p.Ile237=) c.1716C= (p.Ile572=) c.1170C= (p.Ile390=) | |
2 | g.168944920G>T | CA429985448 | ABCB11 | c.702C>A (p.Ile234=) c.2385C>A (p.Ile795=) c.1074C>A (n.1074C>A) c.2427C>A (p.Ile809=) c.2487C>A (p.Ile829=) c.711C>A (p.Ile237=) c.1716C>A (p.Ile572=) c.1170C>A (p.Ile390=) | gnomAD v4 |
2 | g.168944921A= | CA1306207392 | ABCB11 | c.701T= (p.Ile234=) c.2384T= (p.Ile795=) c.1073T= (n.1073T=) c.2426T= (p.Ile809=) c.2486T= (p.Ile829=) c.710T= (p.Ile237=) c.1715T= (p.Ile572=) c.1169T= (p.Ile390=) | |
2 | g.168944921A>C | CA349127803 | ABCB11 | c.701T>G (p.Ile234Ser) c.2384T>G (p.Ile795Ser) c.1073T>G (n.1073T>G) c.2426T>G (p.Ile809Ser) c.2486T>G (p.Ile829Ser) c.710T>G (p.Ile237Ser) c.1715T>G (p.Ile572Ser) c.1169T>G (p.Ile390Ser) | |
2 | g.168944921A>G | CA349127809 | ABCB11 | c.701T>C (p.Ile234Thr) c.2384T>C (p.Ile795Thr) c.1073T>C (n.1073T>C) c.2426T>C (p.Ile809Thr) c.2486T>C (p.Ile829Thr) c.710T>C (p.Ile237Thr) c.1715T>C (p.Ile572Thr) c.1169T>C (p.Ile390Thr) | dbSNP |
2 | g.168944921A>T | CA349127811 | ABCB11 | c.701T>A (p.Ile234Asn) c.2384T>A (p.Ile795Asn) c.1073T>A (n.1073T>A) c.2426T>A (p.Ile809Asn) c.2486T>A (p.Ile829Asn) c.710T>A (p.Ile237Asn) c.1715T>A (p.Ile572Asn) c.1169T>A (p.Ile390Asn) | gnomAD v4 |
2 | g.168944922T>A | CA349127820 | ABCB11 | c.700A>T (p.Ile234Phe) c.2383A>T (p.Ile795Phe) c.1072A>T (n.1072A>T) c.2425A>T (p.Ile809Phe) c.2485A>T (p.Ile829Phe) c.709A>T (p.Ile237Phe) c.1714A>T (p.Ile572Phe) c.1168A>T (p.Ile390Phe) | |
2 | g.168944922T>C | CA349127817 | ABCB11 | c.700A>G (p.Ile234Val) c.2383A>G (p.Ile795Val) c.1072A>G (n.1072A>G) c.2425A>G (p.Ile809Val) c.2485A>G (p.Ile829Val) c.709A>G (p.Ile237Val) c.1714A>G (p.Ile572Val) c.1168A>G (p.Ile390Val) | gnomAD v4 |
2 | g.168944922T>G | CA349127819 | ABCB11 | c.700A>C (p.Ile234Leu) c.2383A>C (p.Ile795Leu) c.1072A>C (n.1072A>C) c.2425A>C (p.Ile809Leu) c.2485A>C (p.Ile829Leu) c.709A>C (p.Ile237Leu) c.1714A>C (p.Ile572Leu) c.1168A>C (p.Ile390Leu) | |
2 | g.168944923C>A | CA349127821 | ABCB11 | c.699G>T (p.Gln233His) c.2382G>T (p.Gln794His) c.1071G>T (n.1071G>T) c.2424G>T (p.Gln808His) c.2484G>T (p.Gln828His) c.708G>T (p.Gln236His) c.1713G>T (p.Gln571His) c.1167G>T (p.Gln389His) | gnomAD v4 |
2 | g.168944923C>G | CA349127822 | ABCB11 | c.699G>C (p.Gln233His) c.2382G>C (p.Gln794His) c.1071G>C (n.1071G>C) c.2424G>C (p.Gln808His) c.2484G>C (p.Gln828His) c.708G>C (p.Gln236His) c.1713G>C (p.Gln571His) c.1167G>C (p.Gln389His) | |
2 | g.168944923C>T | CA429985453 | ABCB11 | c.699G>A (p.Gln233=) c.2382G>A (p.Gln794=) c.1071G>A (n.1071G>A) c.2424G>A (p.Gln808=) c.2484G>A (p.Gln828=) c.708G>A (p.Gln236=) c.1713G>A (p.Gln571=) c.1167G>A (p.Gln389=) | gnomAD v4 |
2 | g.168944924T>A | CA349127823 | ABCB11 | c.698A>T (p.Gln233Leu) c.2381A>T (p.Gln794Leu) c.1070A>T (n.1070A>T) c.2423A>T (p.Gln808Leu) c.2483A>T (p.Gln828Leu) c.707A>T (p.Gln236Leu) c.1712A>T (p.Gln571Leu) c.1166A>T (p.Gln389Leu) | |
2 | g.168944924T>C | CA349127827 | ABCB11 | c.698A>G (p.Gln233Arg) c.2381A>G (p.Gln794Arg) c.1070A>G (n.1070A>G) c.2423A>G (p.Gln808Arg) c.2483A>G (p.Gln828Arg) c.707A>G (p.Gln236Arg) c.1712A>G (p.Gln571Arg) c.1166A>G (p.Gln389Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944924T>G | CA349127830 | ABCB11 | c.698A>C (p.Gln233Pro) c.2381A>C (p.Gln794Pro) c.1070A>C (n.1070A>C) c.2423A>C (p.Gln808Pro) c.2483A>C (p.Gln828Pro) c.707A>C (p.Gln236Pro) c.1712A>C (p.Gln571Pro) c.1166A>C (p.Gln389Pro) | |
2 | g.168944924T= | CA1306207395 | ABCB11 | c.698A= (p.Gln233=) c.2381A= (p.Gln794=) c.1070A= (n.1070A=) c.2423A= (p.Gln808=) c.2483A= (p.Gln828=) c.707A= (p.Gln236=) c.1712A= (p.Gln571=) c.1166A= (p.Gln389=) | |
2 | g.168944925G>A | CA16616898 | ABCB11 | c.697C>T (p.Gln233Ter) c.2380C>T (p.Gln794Ter) c.1069C>T (n.1069C>T) c.2422C>T (p.Gln808Ter) c.2482C>T (p.Gln828Ter) c.706C>T (p.Gln236Ter) c.1711C>T (p.Gln571Ter) c.1165C>T (p.Gln389Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944925G>C | CA349127835 | ABCB11 | c.697C>G (p.Gln233Glu) c.2380C>G (p.Gln794Glu) c.1069C>G (n.1069C>G) c.2422C>G (p.Gln808Glu) c.2482C>G (p.Gln828Glu) c.706C>G (p.Gln236Glu) c.1711C>G (p.Gln571Glu) c.1165C>G (p.Gln389Glu) | |
2 | g.168944925G= | CA1306207398 | ABCB11 | c.697C= (p.Gln233=) c.2380C= (p.Gln794=) c.1069C= (n.1069C=) c.2422C= (p.Gln808=) c.2482C= (p.Gln828=) c.706C= (p.Gln236=) c.1711C= (p.Gln571=) c.1165C= (p.Gln389=) | |
2 | g.168944925G>T | CA349127838 | ABCB11 | c.697C>A (p.Gln233Lys) c.2380C>A (p.Gln794Lys) c.1069C>A (n.1069C>A) c.2422C>A (p.Gln808Lys) c.2482C>A (p.Gln828Lys) c.706C>A (p.Gln236Lys) c.1711C>A (p.Gln571Lys) c.1165C>A (p.Gln389Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944926T>A | CA429985457 | ABCB11 | c.696A>T (p.Ser232=) c.2379A>T (p.Ser793=) c.1068A>T (n.1068A>T) c.2421A>T (p.Ser807=) c.2481A>T (p.Ser827=) c.705A>T (p.Ser235=) c.1710A>T (p.Ser570=) c.1164A>T (p.Ser388=) | |
2 | g.168944926T>C | CA429985459 | ABCB11 | c.696A>G (p.Ser232=) c.2379A>G (p.Ser793=) c.1068A>G (n.1068A>G) c.2421A>G (p.Ser807=) c.2481A>G (p.Ser827=) c.705A>G (p.Ser235=) c.1710A>G (p.Ser570=) c.1164A>G (p.Ser388=) | gnomAD v4 |
2 | g.168944926T>G | CA429985458 | ABCB11 | c.696A>C (p.Ser232=) c.2379A>C (p.Ser793=) c.1068A>C (n.1068A>C) c.2421A>C (p.Ser807=) c.2481A>C (p.Ser827=) c.705A>C (p.Ser235=) c.1710A>C (p.Ser570=) c.1164A>C (p.Ser388=) | |
2 | g.168944927G>A | CA349127842 | ABCB11 | c.695C>T (p.Ser232Leu) c.2378C>T (p.Ser793Leu) c.1067C>T (n.1067C>T) c.2420C>T (p.Ser807Leu) c.2480C>T (p.Ser827Leu) c.704C>T (p.Ser235Leu) c.1709C>T (p.Ser570Leu) c.1163C>T (p.Ser388Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944927G>C | CA349127848 | ABCB11 | c.695C>G (p.Ser232Ter) c.2378C>G (p.Ser793Ter) c.1067C>G (n.1067C>G) c.2420C>G (p.Ser807Ter) c.2480C>G (p.Ser827Ter) c.704C>G (p.Ser235Ter) c.1709C>G (p.Ser570Ter) c.1163C>G (p.Ser388Ter) | |
2 | g.168944927G= | CA1306207404 | ABCB11 | c.695C= (p.Ser232=) c.2378C= (p.Ser793=) c.1067C= (n.1067C=) c.2420C= (p.Ser807=) c.2480C= (p.Ser827=) c.704C= (p.Ser235=) c.1709C= (p.Ser570=) c.1163C= (p.Ser388=) | |
2 | g.168944927G>T | CA349127851 | ABCB11 | c.695C>A (p.Ser232Ter) c.2378C>A (p.Ser793Ter) c.1067C>A (n.1067C>A) c.2420C>A (p.Ser807Ter) c.2480C>A (p.Ser827Ter) c.704C>A (p.Ser235Ter) c.1709C>A (p.Ser570Ter) c.1163C>A (p.Ser388Ter) | gnomAD v4 |
2 | g.168944928A>C | CA349127862 | ABCB11 | c.694T>G (p.Ser232Ala) c.2377T>G (p.Ser793Ala) c.1066T>G (n.1066T>G) c.2419T>G (p.Ser807Ala) c.2479T>G (p.Ser827Ala) c.703T>G (p.Ser235Ala) c.1708T>G (p.Ser570Ala) c.1162T>G (p.Ser388Ala) | |
2 | g.168944928A>G | CA349127860 | ABCB11 | c.694T>C (p.Ser232Pro) c.2377T>C (p.Ser793Pro) c.1066T>C (n.1066T>C) c.2419T>C (p.Ser807Pro) c.2479T>C (p.Ser827Pro) c.703T>C (p.Ser235Pro) c.1708T>C (p.Ser570Pro) c.1162T>C (p.Ser388Pro) | gnomAD v4 |
2 | g.168944928A>T | CA349127854 | ABCB11 | c.694T>A (p.Ser232Thr) c.2377T>A (p.Ser793Thr) c.1066T>A (n.1066T>A) c.2419T>A (p.Ser807Thr) c.2479T>A (p.Ser827Thr) c.703T>A (p.Ser235Thr) c.1708T>A (p.Ser570Thr) c.1162T>A (p.Ser388Thr) | gnomAD v4 |
2 | g.168944929C>A | CA1951290 | ABCB11 | c.693G>T (p.Arg231Ser) c.2376G>T (p.Arg792Ser) c.1065G>T (n.1065G>T) c.2418G>T (p.Arg806Ser) c.2478G>T (p.Arg826Ser) c.702G>T (p.Arg234Ser) c.1707G>T (p.Arg569Ser) c.1161G>T (p.Arg387Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944929C= | CA1306207407 | ABCB11 | c.693G= (p.Arg231=) c.2376G= (p.Arg792=) c.1065G= (n.1065G=) c.2418G= (p.Arg806=) c.2478G= (p.Arg826=) c.702G= (p.Arg234=) c.1707G= (p.Arg569=) c.1161G= (p.Arg387=) | |
2 | g.168944929C>G | CA349127868 | ABCB11 | c.693G>C (p.Arg231Ser) c.2376G>C (p.Arg792Ser) c.1065G>C (n.1065G>C) c.2418G>C (p.Arg806Ser) c.2478G>C (p.Arg826Ser) c.702G>C (p.Arg234Ser) c.1707G>C (p.Arg569Ser) c.1161G>C (p.Arg387Ser) | |
2 | g.168944929C>T | CA429985462 | ABCB11 | c.693G>A (p.Arg231=) c.2376G>A (p.Arg792=) c.1065G>A (n.1065G>A) c.2418G>A (p.Arg806=) c.2478G>A (p.Arg826=) c.702G>A (p.Arg234=) c.1707G>A (p.Arg569=) c.1161G>A (p.Arg387=) | gnomAD v4 |
2 | g.168944930del | CA2661805255 | ABCB11 | c.693del (p.Arg231SerfsTer12) c.2376del (p.Arg792SerfsTer12) c.1065del (n.1065del) c.2418del (p.Arg806SerfsTer12) c.2478del (p.Arg826SerfsTer12) c.702del (p.Arg234SerfsTer12) c.1707del (p.Arg569SerfsTer12) c.1161del (p.Arg387SerfsTer12) | gnomAD v4 |
2 | g.168944930C>A | CA349127870 | ABCB11 | c.692G>T (p.Arg231Met) c.2375G>T (p.Arg792Met) c.1064G>T (n.1064G>T) c.2417G>T (p.Arg806Met) c.2477G>T (p.Arg826Met) c.701G>T (p.Arg234Met) c.1706G>T (p.Arg569Met) c.1160G>T (p.Arg387Met) | gnomAD v4 |
2 | g.168944930C>G | CA349127872 | ABCB11 | c.692G>C (p.Arg231Thr) c.2375G>C (p.Arg792Thr) c.1064G>C (n.1064G>C) c.2417G>C (p.Arg806Thr) c.2477G>C (p.Arg826Thr) c.701G>C (p.Arg234Thr) c.1706G>C (p.Arg569Thr) c.1160G>C (p.Arg387Thr) | gnomAD v4 |
2 | g.168944930C>T | CA349127876 | ABCB11 | c.692G>A (p.Arg231Lys) c.2375G>A (p.Arg792Lys) c.1064G>A (n.1064G>A) c.2417G>A (p.Arg806Lys) c.2477G>A (p.Arg826Lys) c.701G>A (p.Arg234Lys) c.1706G>A (p.Arg569Lys) c.1160G>A (p.Arg387Lys) | gnomAD v4 |
2 | g.168944931T>A | CA349127878 | ABCB11 | c.691A>T (p.Arg231Trp) c.2374A>T (p.Arg792Trp) c.1063A>T (n.1063A>T) c.2416A>T (p.Arg806Trp) c.2476A>T (p.Arg826Trp) c.700A>T (p.Arg234Trp) c.1705A>T (p.Arg569Trp) c.1159A>T (p.Arg387Trp) | gnomAD v4 |
2 | g.168944931T>C | CA349127882 | ABCB11 | c.691A>G (p.Arg231Gly) c.2374A>G (p.Arg792Gly) c.1063A>G (n.1063A>G) c.2416A>G (p.Arg806Gly) c.2476A>G (p.Arg826Gly) c.700A>G (p.Arg234Gly) c.1705A>G (p.Arg569Gly) c.1159A>G (p.Arg387Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168944931T>G | CA429985466 | ABCB11 | c.691A>C (p.Arg231=) c.2374A>C (p.Arg792=) c.1063A>C (n.1063A>C) c.2416A>C (p.Arg806=) c.2476A>C (p.Arg826=) c.700A>C (p.Arg234=) c.1705A>C (p.Arg569=) c.1159A>C (p.Arg387=) | |
2 | g.168944931T= | CA1306207409 | ABCB11 | c.691A= (p.Arg231=) c.2374A= (p.Arg792=) c.1063A= (n.1063A=) c.2416A= (p.Arg806=) c.2476A= (p.Arg826=) c.700A= (p.Arg234=) c.1705A= (p.Arg569=) c.1159A= (p.Arg387=) | |
2 | g.168944932T>A | CA349127884 | ABCB11 | c.690A>T (p.Gln230His) c.2373A>T (p.Gln791His) c.1062A>T (n.1062A>T) c.2415A>T (p.Gln805His) c.2475A>T (p.Gln825His) c.699A>T (p.Gln233His) c.1704A>T (p.Gln568His) c.1158A>T (p.Gln386His) | gnomAD v4 |
2 | g.168944932T>C | CA429985468 | ABCB11 | c.690A>G (p.Gln230=) c.2373A>G (p.Gln791=) c.1062A>G (n.1062A>G) c.2415A>G (p.Gln805=) c.2475A>G (p.Gln825=) c.699A>G (p.Gln233=) c.1704A>G (p.Gln568=) c.1158A>G (p.Gln386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944932T>G | CA349127888 | ABCB11 | c.690A>C (p.Gln230His) c.2373A>C (p.Gln791His) c.1062A>C (n.1062A>C) c.2415A>C (p.Gln805His) c.2475A>C (p.Gln825His) c.699A>C (p.Gln233His) c.1704A>C (p.Gln568His) c.1158A>C (p.Gln386His) | |
2 | g.168944932T= | CA1306207412 | ABCB11 | c.690A= (p.Gln230=) c.2373A= (p.Gln791=) c.1062A= (n.1062A=) c.2415A= (p.Gln805=) c.2475A= (p.Gln825=) c.699A= (p.Gln233=) c.1704A= (p.Gln568=) c.1158A= (p.Gln386=) | |
2 | g.168944933T>A | CA349127891 | ABCB11 | c.689A>T (p.Gln230Leu) c.2372A>T (p.Gln791Leu) c.1061A>T (n.1061A>T) c.2414A>T (p.Gln805Leu) c.2474A>T (p.Gln825Leu) c.698A>T (p.Gln233Leu) c.1703A>T (p.Gln568Leu) c.1157A>T (p.Gln386Leu) | |
2 | g.168944933T>C | CA349127897 | ABCB11 | c.689A>G (p.Gln230Arg) c.2372A>G (p.Gln791Arg) c.1061A>G (n.1061A>G) c.2414A>G (p.Gln805Arg) c.2474A>G (p.Gln825Arg) c.698A>G (p.Gln233Arg) c.1703A>G (p.Gln568Arg) c.1157A>G (p.Gln386Arg) | gnomAD v4 |
2 | g.168944933T>G | CA349127899 | ABCB11 | c.689A>C (p.Gln230Pro) c.2372A>C (p.Gln791Pro) c.1061A>C (n.1061A>C) c.2414A>C (p.Gln805Pro) c.2474A>C (p.Gln825Pro) c.698A>C (p.Gln233Pro) c.1703A>C (p.Gln568Pro) c.1157A>C (p.Gln386Pro) | |
2 | g.168944934G>A | CA349127902 | ABCB11 | c.688C>T (p.Gln230Ter) c.2371C>T (p.Gln791Ter) c.1060C>T (n.1060C>T) c.2413C>T (p.Gln805Ter) c.2473C>T (p.Gln825Ter) c.697C>T (p.Gln233Ter) c.1702C>T (p.Gln568Ter) c.1156C>T (p.Gln386Ter) | gnomAD v4 |
2 | g.168944934G>C | CA349127908 | ABCB11 | c.688C>G (p.Gln230Glu) c.2371C>G (p.Gln791Glu) c.1060C>G (n.1060C>G) c.2413C>G (p.Gln805Glu) c.2473C>G (p.Gln825Glu) c.697C>G (p.Gln233Glu) c.1702C>G (p.Gln568Glu) c.1156C>G (p.Gln386Glu) | |
2 | g.168944934G>T | CA349127912 | ABCB11 | c.688C>A (p.Gln230Lys) c.2371C>A (p.Gln791Lys) c.1060C>A (n.1060C>A) c.2413C>A (p.Gln805Lys) c.2473C>A (p.Gln825Lys) c.697C>A (p.Gln233Lys) c.1702C>A (p.Gln568Lys) c.1156C>A (p.Gln386Lys) | |
2 | g.168944935T>A | CA349127915 | ABCB11 | c.687A>T (p.Glu229Asp) c.2370A>T (p.Glu790Asp) c.1059A>T (n.1059A>T) c.2412A>T (p.Glu804Asp) c.2472A>T (p.Glu824Asp) c.696A>T (p.Glu232Asp) c.1701A>T (p.Glu567Asp) c.1155A>T (p.Glu385Asp) | gnomAD v4 |
2 | g.168944935T>C | CA429985470 | ABCB11 | c.687A>G (p.Glu229=) c.2370A>G (p.Glu790=) c.1059A>G (n.1059A>G) c.2412A>G (p.Glu804=) c.2472A>G (p.Glu824=) c.696A>G (p.Glu232=) c.1701A>G (p.Glu567=) c.1155A>G (p.Glu385=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168944935T>G | CA349127918 | ABCB11 | c.687A>C (p.Glu229Asp) c.2370A>C (p.Glu790Asp) c.1059A>C (n.1059A>C) c.2412A>C (p.Glu804Asp) c.2472A>C (p.Glu824Asp) c.696A>C (p.Glu232Asp) c.1701A>C (p.Glu567Asp) c.1155A>C (p.Glu385Asp) | |
2 | g.168944935T= | CA1306207414 | ABCB11 | c.687A= (p.Glu229=) c.2370A= (p.Glu790=) c.1059A= (n.1059A=) c.2412A= (p.Glu804=) c.2472A= (p.Glu824=) c.696A= (p.Glu232=) c.1701A= (p.Glu567=) c.1155A= (p.Glu385=) | |
2 | g.168944936T>A | CA349127923 | ABCB11 | c.686A>T (p.Glu229Val) c.2369A>T (p.Glu790Val) c.1058A>T (n.1058A>T) c.2411A>T (p.Glu804Val) c.2471A>T (p.Glu824Val) c.695A>T (p.Glu232Val) c.1700A>T (p.Glu567Val) c.1154A>T (p.Glu385Val) | gnomAD v4 |
2 | g.168944936T>C | CA349127924 | ABCB11 | c.686A>G (p.Glu229Gly) c.2369A>G (p.Glu790Gly) c.1058A>G (n.1058A>G) c.2411A>G (p.Glu804Gly) c.2471A>G (p.Glu824Gly) c.695A>G (p.Glu232Gly) c.1700A>G (p.Glu567Gly) c.1154A>G (p.Glu385Gly) | dbSNP gnomAD v4 |
2 | g.168944936T>G | CA349127925 | ABCB11 | c.686A>C (p.Glu229Ala) c.2369A>C (p.Glu790Ala) c.1058A>C (n.1058A>C) c.2411A>C (p.Glu804Ala) c.2471A>C (p.Glu824Ala) c.695A>C (p.Glu232Ala) c.1700A>C (p.Glu567Ala) c.1154A>C (p.Glu385Ala) | |
2 | g.168944936T= | CA1306207416 | ABCB11 | c.686A= (p.Glu229=) c.2369A= (p.Glu790=) c.1058A= (n.1058A=) c.2411A= (p.Glu804=) c.2471A= (p.Glu824=) c.695A= (p.Glu232=) c.1700A= (p.Glu567=) c.1154A= (p.Glu385=) | |
2 | g.168944937C>A | CA349127927 | ABCB11 | c.685G>T (p.Glu229Ter) c.2368G>T (p.Glu790Ter) c.1057G>T (n.1057G>T) c.2410G>T (p.Glu804Ter) c.2470G>T (p.Glu824Ter) c.694G>T (p.Glu232Ter) c.1699G>T (p.Glu567Ter) c.1153G>T (p.Glu385Ter) | gnomAD v4 |
2 | g.168944937C= | CA1306207419 | ABCB11 | c.685G= (p.Glu229=) c.2368G= (p.Glu790=) c.1057G= (n.1057G=) c.2410G= (p.Glu804=) c.2470G= (p.Glu824=) c.694G= (p.Glu232=) c.1699G= (p.Glu567=) c.1153G= (p.Glu385=) | |
2 | g.168944937C>G | CA1951291 | ABCB11 | c.685G>C (p.Glu229Gln) c.2368G>C (p.Glu790Gln) c.1057G>C (n.1057G>C) c.2410G>C (p.Glu804Gln) c.2470G>C (p.Glu824Gln) c.694G>C (p.Glu232Gln) c.1699G>C (p.Glu567Gln) c.1153G>C (p.Glu385Gln) | dbSNP ExAC gnomAD v2 |
2 | g.168944937C>T | CA349127930 | ABCB11 | c.685G>A (p.Glu229Lys) c.2368G>A (p.Glu790Lys) c.1057G>A (n.1057G>A) c.2410G>A (p.Glu804Lys) c.2470G>A (p.Glu824Lys) c.694G>A (p.Glu232Lys) c.1699G>A (p.Glu567Lys) c.1153G>A (p.Glu385Lys) | gnomAD v4 |