| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.102390946T>A | CA801007819 | SLCO6A1 | c.1879+35A>T (n.1879+35A>T) c.1693+35A>T (n.1693+35A>T) c.1120+35A>T (n.1120+35A>T) n.249+35A>T c.1774+35A>T (n.1774+35A>T) c.1642+35A>T (n.1642+35A>T) c.1306+35A>T (n.1306+35A>T) c.1150+35A>T (n.1150+35A>T) c.1057+35A>T (n.1057+35A>T) | dbSNP gnomAD v4 |
| 5 | g.102390946T>G | CA2674746454 | SLCO6A1 | c.1879+35A>C (n.1879+35A>C) c.1693+35A>C (n.1693+35A>C) c.1120+35A>C (n.1120+35A>C) n.249+35A>C c.1774+35A>C (n.1774+35A>C) c.1642+35A>C (n.1642+35A>C) c.1306+35A>C (n.1306+35A>C) c.1150+35A>C (n.1150+35A>C) c.1057+35A>C (n.1057+35A>C) | gnomAD v4 |
| 5 | g.102390946T= | CA1568270760 | SLCO6A1 | c.1879+35A= (n.1879+35A=) c.1693+35A= (n.1693+35A=) c.1120+35A= (n.1120+35A=) n.249+35A= c.1774+35A= (n.1774+35A=) c.1642+35A= (n.1642+35A=) c.1306+35A= (n.1306+35A=) c.1150+35A= (n.1150+35A=) c.1057+35A= (n.1057+35A=) | |
| 5 | g.102390949dup | CA2674746453 | SLCO6A1 | c.1879+35dup (n.1879+35dup) c.1693+35dup (n.1693+35dup) c.1120+35dup (n.1120+35dup) n.249+35dup c.1774+35dup (n.1774+35dup) c.1642+35dup (n.1642+35dup) c.1306+35dup (n.1306+35dup) c.1150+35dup (n.1150+35dup) c.1057+35dup (n.1057+35dup) | gnomAD v4 |
| 5 | g.102390947T>C | CA2578371575 | SLCO6A1 | c.1879+34A>G (n.1879+34A>G) c.1693+34A>G (n.1693+34A>G) c.1120+34A>G (n.1120+34A>G) n.249+34A>G c.1774+34A>G (n.1774+34A>G) c.1642+34A>G (n.1642+34A>G) c.1306+34A>G (n.1306+34A>G) c.1150+34A>G (n.1150+34A>G) c.1057+34A>G (n.1057+34A>G) | gnomAD v4 |
| 5 | g.102390947T>G | CA3357920 | SLCO6A1 | c.1879+34A>C (n.1879+34A>C) c.1693+34A>C (n.1693+34A>C) c.1120+34A>C (n.1120+34A>C) n.249+34A>C c.1774+34A>C (n.1774+34A>C) c.1642+34A>C (n.1642+34A>C) c.1306+34A>C (n.1306+34A>C) c.1150+34A>C (n.1150+34A>C) c.1057+34A>C (n.1057+34A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102390947T= | CA1568270761 | SLCO6A1 | c.1879+34A= (n.1879+34A=) c.1693+34A= (n.1693+34A=) c.1120+34A= (n.1120+34A=) n.249+34A= c.1774+34A= (n.1774+34A=) c.1642+34A= (n.1642+34A=) c.1306+34A= (n.1306+34A=) c.1150+34A= (n.1150+34A=) c.1057+34A= (n.1057+34A=) | |
| 5 | g.102390948T>C | CA3357921 | SLCO6A1 | c.1879+33A>G (n.1879+33A>G) c.1693+33A>G (n.1693+33A>G) c.1120+33A>G (n.1120+33A>G) n.249+33A>G c.1774+33A>G (n.1774+33A>G) c.1642+33A>G (n.1642+33A>G) c.1306+33A>G (n.1306+33A>G) c.1150+33A>G (n.1150+33A>G) c.1057+33A>G (n.1057+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102390948T>G | CA2674746455 | SLCO6A1 | c.1879+33A>C (n.1879+33A>C) c.1693+33A>C (n.1693+33A>C) c.1120+33A>C (n.1120+33A>C) n.249+33A>C c.1774+33A>C (n.1774+33A>C) c.1642+33A>C (n.1642+33A>C) c.1306+33A>C (n.1306+33A>C) c.1150+33A>C (n.1150+33A>C) c.1057+33A>C (n.1057+33A>C) | gnomAD v4 |
| 5 | g.102390948T= | CA1568270762 | SLCO6A1 | c.1879+33A= (n.1879+33A=) c.1693+33A= (n.1693+33A=) c.1120+33A= (n.1120+33A=) n.249+33A= c.1774+33A= (n.1774+33A=) c.1642+33A= (n.1642+33A=) c.1306+33A= (n.1306+33A=) c.1150+33A= (n.1150+33A=) c.1057+33A= (n.1057+33A=) | |
| 5 | g.102390949T>C | CA2674746456 | SLCO6A1 | c.1879+32A>G (n.1879+32A>G) c.1693+32A>G (n.1693+32A>G) c.1120+32A>G (n.1120+32A>G) n.249+32A>G c.1774+32A>G (n.1774+32A>G) c.1642+32A>G (n.1642+32A>G) c.1306+32A>G (n.1306+32A>G) c.1150+32A>G (n.1150+32A>G) c.1057+32A>G (n.1057+32A>G) | gnomAD v4 |
| 5 | g.102390950G>A | CA2542941061 | SLCO6A1 | c.1879+31C>T (n.1879+31C>T) c.1693+31C>T (n.1693+31C>T) c.1120+31C>T (n.1120+31C>T) n.249+31C>T c.1774+31C>T (n.1774+31C>T) c.1642+31C>T (n.1642+31C>T) c.1306+31C>T (n.1306+31C>T) c.1150+31C>T (n.1150+31C>T) c.1057+31C>T (n.1057+31C>T) | |
| 5 | g.102390950G>C | CA2674746457 | SLCO6A1 | c.1879+31C>G (n.1879+31C>G) c.1693+31C>G (n.1693+31C>G) c.1120+31C>G (n.1120+31C>G) n.249+31C>G c.1774+31C>G (n.1774+31C>G) c.1642+31C>G (n.1642+31C>G) c.1306+31C>G (n.1306+31C>G) c.1150+31C>G (n.1150+31C>G) c.1057+31C>G (n.1057+31C>G) | gnomAD v4 |
| 5 | g.102390950G>T | CA2674746458 | SLCO6A1 | c.1879+31C>A (n.1879+31C>A) c.1693+31C>A (n.1693+31C>A) c.1120+31C>A (n.1120+31C>A) n.249+31C>A c.1774+31C>A (n.1774+31C>A) c.1642+31C>A (n.1642+31C>A) c.1306+31C>A (n.1306+31C>A) c.1150+31C>A (n.1150+31C>A) c.1057+31C>A (n.1057+31C>A) | gnomAD v4 |
| 5 | g.102390951A= | CA1568270763 | SLCO6A1 | c.1879+30T= (n.1879+30T=) c.1693+30T= (n.1693+30T=) c.1120+30T= (n.1120+30T=) n.249+30T= c.1774+30T= (n.1774+30T=) c.1642+30T= (n.1642+30T=) c.1306+30T= (n.1306+30T=) c.1150+30T= (n.1150+30T=) c.1057+30T= (n.1057+30T=) | |
| 5 | g.102390951A>T | CA561319485 | SLCO6A1 | c.1879+30T>A (n.1879+30T>A) c.1693+30T>A (n.1693+30T>A) c.1120+30T>A (n.1120+30T>A) n.249+30T>A c.1774+30T>A (n.1774+30T>A) c.1642+30T>A (n.1642+30T>A) c.1306+30T>A (n.1306+30T>A) c.1150+30T>A (n.1150+30T>A) c.1057+30T>A (n.1057+30T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.102390953G>A | CA2674746459 | SLCO6A1 | c.1879+28C>T (n.1879+28C>T) c.1693+28C>T (n.1693+28C>T) c.1120+28C>T (n.1120+28C>T) n.249+28C>T c.1774+28C>T (n.1774+28C>T) c.1642+28C>T (n.1642+28C>T) c.1306+28C>T (n.1306+28C>T) c.1150+28C>T (n.1150+28C>T) c.1057+28C>T (n.1057+28C>T) | gnomAD v4 |
| 5 | g.102390953G>T | CA2674746460 | SLCO6A1 | c.1879+28C>A (n.1879+28C>A) c.1693+28C>A (n.1693+28C>A) c.1120+28C>A (n.1120+28C>A) n.249+28C>A c.1774+28C>A (n.1774+28C>A) c.1642+28C>A (n.1642+28C>A) c.1306+28C>A (n.1306+28C>A) c.1150+28C>A (n.1150+28C>A) c.1057+28C>A (n.1057+28C>A) | gnomAD v4 |
| 5 | g.102390954T>C | CA123846806 | SLCO6A1 | c.1879+27A>G (n.1879+27A>G) c.1693+27A>G (n.1693+27A>G) c.1120+27A>G (n.1120+27A>G) n.249+27A>G c.1774+27A>G (n.1774+27A>G) c.1642+27A>G (n.1642+27A>G) c.1306+27A>G (n.1306+27A>G) c.1150+27A>G (n.1150+27A>G) c.1057+27A>G (n.1057+27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102390954T= | CA1568270764 | SLCO6A1 | c.1879+27A= (n.1879+27A=) c.1693+27A= (n.1693+27A=) c.1120+27A= (n.1120+27A=) n.249+27A= c.1774+27A= (n.1774+27A=) c.1642+27A= (n.1642+27A=) c.1306+27A= (n.1306+27A=) c.1150+27A= (n.1150+27A=) c.1057+27A= (n.1057+27A=) | |
| 5 | g.102390956del | CA2674746461 | SLCO6A1 | c.1879+26del (n.1879+26del) c.1693+26del (n.1693+26del) c.1120+26del (n.1120+26del) n.249+26del c.1774+26del (n.1774+26del) c.1642+26del (n.1642+26del) c.1306+26del (n.1306+26del) c.1150+26del (n.1150+26del) c.1057+26del (n.1057+26del) | gnomAD v4 |
| 5 | g.102390957T>C | CA2674746462 | SLCO6A1 | c.1879+24A>G (n.1879+24A>G) c.1693+24A>G (n.1693+24A>G) c.1120+24A>G (n.1120+24A>G) n.249+24A>G c.1774+24A>G (n.1774+24A>G) c.1642+24A>G (n.1642+24A>G) c.1306+24A>G (n.1306+24A>G) c.1150+24A>G (n.1150+24A>G) c.1057+24A>G (n.1057+24A>G) | gnomAD v4 |
| 5 | g.102390957_102390959delinsTAA | CA1568270765 | SLCO6A1 | c.1879+22_1879+24delinsTTA (n.1879+22_1879+24delinsTTA) c.1693+22_1693+24delinsTTA (n.1693+22_1693+24delinsTTA) c.1120+22_1120+24delinsTTA (n.1120+22_1120+24delinsTTA) n.249+22_249+24delinsTTA c.1774+22_1774+24delinsTTA (n.1774+22_1774+24delinsTTA) c.1642+22_1642+24delinsTTA (n.1642+22_1642+24delinsTTA) c.1306+22_1306+24delinsTTA (n.1306+22_1306+24delinsTTA) c.1150+22_1150+24delinsTTA (n.1150+22_1150+24delinsTTA) c.1057+22_1057+24delinsTTA (n.1057+22_1057+24delinsTTA) | |
| 5 | g.102390958_102390959del | CA561319486 | SLCO6A1 | c.1879+22_1879+23del (n.1879+22_1879+23del) c.1693+22_1693+23del (n.1693+22_1693+23del) c.1120+22_1120+23del (n.1120+22_1120+23del) n.249+22_249+23del c.1774+22_1774+23del (n.1774+22_1774+23del) c.1642+22_1642+23del (n.1642+22_1642+23del) c.1306+22_1306+23del (n.1306+22_1306+23del) c.1150+22_1150+23del (n.1150+22_1150+23del) c.1057+22_1057+23del (n.1057+22_1057+23del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.102390959del | CA2553189676 | SLCO6A1 | c.1879+23del (n.1879+23del) c.1693+23del (n.1693+23del) c.1120+23del (n.1120+23del) n.249+23del c.1774+23del (n.1774+23del) c.1642+23del (n.1642+23del) c.1306+23del (n.1306+23del) c.1150+23del (n.1150+23del) c.1057+23del (n.1057+23del) | |
| 5 | g.102390959A= | CA1568270766 | SLCO6A1 | c.1879+22T= (n.1879+22T=) c.1693+22T= (n.1693+22T=) c.1120+22T= (n.1120+22T=) n.249+22T= c.1774+22T= (n.1774+22T=) c.1642+22T= (n.1642+22T=) c.1306+22T= (n.1306+22T=) c.1150+22T= (n.1150+22T=) c.1057+22T= (n.1057+22T=) | |
| 5 | g.102390959A>C | CA2674746463 | SLCO6A1 | c.1879+22T>G (n.1879+22T>G) c.1693+22T>G (n.1693+22T>G) c.1120+22T>G (n.1120+22T>G) n.249+22T>G c.1774+22T>G (n.1774+22T>G) c.1642+22T>G (n.1642+22T>G) c.1306+22T>G (n.1306+22T>G) c.1150+22T>G (n.1150+22T>G) c.1057+22T>G (n.1057+22T>G) | gnomAD v4 |
| 5 | g.102390959A>T | CA561319487 | SLCO6A1 | c.1879+22T>A (n.1879+22T>A) c.1693+22T>A (n.1693+22T>A) c.1120+22T>A (n.1120+22T>A) n.249+22T>A c.1774+22T>A (n.1774+22T>A) c.1642+22T>A (n.1642+22T>A) c.1306+22T>A (n.1306+22T>A) c.1150+22T>A (n.1150+22T>A) c.1057+22T>A (n.1057+22T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102390960G>C | CA2578371576 | SLCO6A1 | c.1879+21C>G (n.1879+21C>G) c.1693+21C>G (n.1693+21C>G) c.1120+21C>G (n.1120+21C>G) n.249+21C>G c.1774+21C>G (n.1774+21C>G) c.1642+21C>G (n.1642+21C>G) c.1306+21C>G (n.1306+21C>G) c.1150+21C>G (n.1150+21C>G) c.1057+21C>G (n.1057+21C>G) | |
| 5 | g.102390960G>T | CA2541025148 | SLCO6A1 | c.1879+21C>A (n.1879+21C>A) c.1693+21C>A (n.1693+21C>A) c.1120+21C>A (n.1120+21C>A) n.249+21C>A c.1774+21C>A (n.1774+21C>A) c.1642+21C>A (n.1642+21C>A) c.1306+21C>A (n.1306+21C>A) c.1150+21C>A (n.1150+21C>A) c.1057+21C>A (n.1057+21C>A) | |
| 5 | g.102390962G>A | CA2674746464 | SLCO6A1 | c.1879+19C>T (n.1879+19C>T) c.1693+19C>T (n.1693+19C>T) c.1120+19C>T (n.1120+19C>T) n.249+19C>T c.1774+19C>T (n.1774+19C>T) c.1642+19C>T (n.1642+19C>T) c.1306+19C>T (n.1306+19C>T) c.1150+19C>T (n.1150+19C>T) c.1057+19C>T (n.1057+19C>T) | gnomAD v4 |
| 5 | g.102390962G>T | CA2674746465 | SLCO6A1 | c.1879+19C>A (n.1879+19C>A) c.1693+19C>A (n.1693+19C>A) c.1120+19C>A (n.1120+19C>A) n.249+19C>A c.1774+19C>A (n.1774+19C>A) c.1642+19C>A (n.1642+19C>A) c.1306+19C>A (n.1306+19C>A) c.1150+19C>A (n.1150+19C>A) c.1057+19C>A (n.1057+19C>A) | gnomAD v4 |
| 5 | g.102390964T>C | CA2674746466 | SLCO6A1 | c.1879+17A>G (n.1879+17A>G) c.1693+17A>G (n.1693+17A>G) c.1120+17A>G (n.1120+17A>G) n.249+17A>G c.1774+17A>G (n.1774+17A>G) c.1642+17A>G (n.1642+17A>G) c.1306+17A>G (n.1306+17A>G) c.1150+17A>G (n.1150+17A>G) c.1057+17A>G (n.1057+17A>G) | gnomAD v4 |
| 5 | g.102390965T>A | CA3357922 | SLCO6A1 | c.1879+16A>T (n.1879+16A>T) c.1693+16A>T (n.1693+16A>T) c.1120+16A>T (n.1120+16A>T) n.249+16A>T c.1774+16A>T (n.1774+16A>T) c.1642+16A>T (n.1642+16A>T) c.1306+16A>T (n.1306+16A>T) c.1150+16A>T (n.1150+16A>T) c.1057+16A>T (n.1057+16A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102390965T= | CA1568270767 | SLCO6A1 | c.1879+16A= (n.1879+16A=) c.1693+16A= (n.1693+16A=) c.1120+16A= (n.1120+16A=) n.249+16A= c.1774+16A= (n.1774+16A=) c.1642+16A= (n.1642+16A=) c.1306+16A= (n.1306+16A=) c.1150+16A= (n.1150+16A=) c.1057+16A= (n.1057+16A=) | |
| 5 | g.102390966G>A | CA2578371577 | SLCO6A1 | c.1879+15C>T (n.1879+15C>T) c.1693+15C>T (n.1693+15C>T) c.1120+15C>T (n.1120+15C>T) n.249+15C>T c.1774+15C>T (n.1774+15C>T) c.1642+15C>T (n.1642+15C>T) c.1306+15C>T (n.1306+15C>T) c.1150+15C>T (n.1150+15C>T) c.1057+15C>T (n.1057+15C>T) | |
| 5 | g.102390967C>T | CA2674746467 | SLCO6A1 | c.1879+14G>A (n.1879+14G>A) c.1693+14G>A (n.1693+14G>A) c.1120+14G>A (n.1120+14G>A) n.249+14G>A c.1774+14G>A (n.1774+14G>A) c.1642+14G>A (n.1642+14G>A) c.1306+14G>A (n.1306+14G>A) c.1150+14G>A (n.1150+14G>A) c.1057+14G>A (n.1057+14G>A) | gnomAD v4 |
| 5 | g.102390970_102390977del | CA2542041495 | SLCO6A1 | c.1879+7_1879+14del (n.1879+7_1879+14del) c.1693+7_1693+14del (n.1693+7_1693+14del) c.1120+7_1120+14del (n.1120+7_1120+14del) n.249+7_249+14del c.1774+7_1774+14del (n.1774+7_1774+14del) c.1642+7_1642+14del (n.1642+7_1642+14del) c.1306+7_1306+14del (n.1306+7_1306+14del) c.1150+7_1150+14del (n.1150+7_1150+14del) c.1057+7_1057+14del (n.1057+7_1057+14del) | |
| 5 | g.102390973del | CA2674746468 | SLCO6A1 | c.1879+12del (n.1879+12del) c.1693+12del (n.1693+12del) c.1120+12del (n.1120+12del) n.249+12del c.1774+12del (n.1774+12del) c.1642+12del (n.1642+12del) c.1306+12del (n.1306+12del) c.1150+12del (n.1150+12del) c.1057+12del (n.1057+12del) | gnomAD v4 |
| 5 | g.102390974T>C | CA2564264798 | SLCO6A1 | c.1879+7A>G (n.1879+7A>G) c.1693+7A>G (n.1693+7A>G) c.1120+7A>G (n.1120+7A>G) n.249+7A>G c.1774+7A>G (n.1774+7A>G) c.1642+7A>G (n.1642+7A>G) c.1306+7A>G (n.1306+7A>G) c.1150+7A>G (n.1150+7A>G) c.1057+7A>G (n.1057+7A>G) | gnomAD v4 |
| 5 | g.102390976C>T | CA645557411 | SLCO6A1 | c.1879+5G>A (n.1879+5G>A) c.1693+5G>A (n.1693+5G>A) c.1120+5G>A (n.1120+5G>A) n.249+5G>A c.1774+5G>A (n.1774+5G>A) c.1642+5G>A (n.1642+5G>A) c.1306+5G>A (n.1306+5G>A) c.1150+5G>A (n.1150+5G>A) c.1057+5G>A (n.1057+5G>A) | COSMIC |
| 5 | g.102390978T>C | CA1568270769 | SLCO6A1 | c.1879+3A>G (n.1879+3A>G) c.1693+3A>G (n.1693+3A>G) c.1120+3A>G (n.1120+3A>G) n.249+3A>G c.1774+3A>G (n.1774+3A>G) c.1642+3A>G (n.1642+3A>G) c.1306+3A>G (n.1306+3A>G) c.1150+3A>G (n.1150+3A>G) c.1057+3A>G (n.1057+3A>G) | dbSNP |
| 5 | g.102390978T= | CA1568270768 | SLCO6A1 | c.1879+3A= (n.1879+3A=) c.1693+3A= (n.1693+3A=) c.1120+3A= (n.1120+3A=) n.249+3A= c.1774+3A= (n.1774+3A=) c.1642+3A= (n.1642+3A=) c.1306+3A= (n.1306+3A=) c.1150+3A= (n.1150+3A=) c.1057+3A= (n.1057+3A=) | |
| 5 | g.102390979A>C | CA360573781 | SLCO6A1 | c.1879+2T>G (n.1879+2T>G) c.1693+2T>G (n.1693+2T>G) c.1120+2T>G (n.1120+2T>G) n.249+2T>G c.1774+2T>G (n.1774+2T>G) c.1642+2T>G (n.1642+2T>G) c.1306+2T>G (n.1306+2T>G) c.1150+2T>G (n.1150+2T>G) c.1057+2T>G (n.1057+2T>G) | |
| 5 | g.102390979A>G | CA360573783 | SLCO6A1 | c.1879+2T>C (n.1879+2T>C) c.1693+2T>C (n.1693+2T>C) c.1120+2T>C (n.1120+2T>C) n.249+2T>C c.1774+2T>C (n.1774+2T>C) c.1642+2T>C (n.1642+2T>C) c.1306+2T>C (n.1306+2T>C) c.1150+2T>C (n.1150+2T>C) c.1057+2T>C (n.1057+2T>C) | gnomAD v4 |
| 5 | g.102390979A>T | CA360573785 | SLCO6A1 | c.1879+2T>A (n.1879+2T>A) c.1693+2T>A (n.1693+2T>A) c.1120+2T>A (n.1120+2T>A) n.249+2T>A c.1774+2T>A (n.1774+2T>A) c.1642+2T>A (n.1642+2T>A) c.1306+2T>A (n.1306+2T>A) c.1150+2T>A (n.1150+2T>A) c.1057+2T>A (n.1057+2T>A) | |
| 5 | g.102390980C>A | CA360573787 | SLCO6A1 | c.1879+1G>T (n.1879+1G>T) c.1693+1G>T (n.1693+1G>T) c.1120+1G>T (n.1120+1G>T) n.249+1G>T c.1774+1G>T (n.1774+1G>T) c.1642+1G>T (n.1642+1G>T) c.1306+1G>T (n.1306+1G>T) c.1150+1G>T (n.1150+1G>T) c.1057+1G>T (n.1057+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.102390980C= | CA1568270770 | SLCO6A1 | c.1879+1G= (n.1879+1G=) c.1693+1G= (n.1693+1G=) c.1120+1G= (n.1120+1G=) n.249+1G= c.1774+1G= (n.1774+1G=) c.1642+1G= (n.1642+1G=) c.1306+1G= (n.1306+1G=) c.1150+1G= (n.1150+1G=) c.1057+1G= (n.1057+1G=) | |
| 5 | g.102390980C>G | CA3357923 | SLCO6A1 | c.1879+1G>C (n.1879+1G>C) c.1693+1G>C (n.1693+1G>C) c.1120+1G>C (n.1120+1G>C) n.249+1G>C c.1774+1G>C (n.1774+1G>C) c.1642+1G>C (n.1642+1G>C) c.1306+1G>C (n.1306+1G>C) c.1150+1G>C (n.1150+1G>C) c.1057+1G>C (n.1057+1G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.102390980C>T | CA3357924 | SLCO6A1 | c.1879+1G>A (n.1879+1G>A) c.1693+1G>A (n.1693+1G>A) c.1120+1G>A (n.1120+1G>A) n.249+1G>A c.1774+1G>A (n.1774+1G>A) c.1642+1G>A (n.1642+1G>A) c.1306+1G>A (n.1306+1G>A) c.1150+1G>A (n.1150+1G>A) c.1057+1G>A (n.1057+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.102390981C>A | CA360573791 | SLCO6A1 | c.1879G>T (p.Gly627Trp) c.1693G>T (p.Gly565Trp) c.1120G>T (p.Gly374Trp) n.249G>T c.1774G>T (p.Gly592Trp) c.1642G>T (p.Gly548Trp) c.1306G>T (p.Gly436Trp) c.1150G>T (p.Gly384Trp) c.1057G>T (p.Gly353Trp) | |
| 5 | g.102390981C>G | CA360573793 | SLCO6A1 | c.1879G>C (p.Gly627Arg) c.1693G>C (p.Gly565Arg) c.1120G>C (p.Gly374Arg) n.249G>C c.1774G>C (p.Gly592Arg) c.1642G>C (p.Gly548Arg) c.1306G>C (p.Gly436Arg) c.1150G>C (p.Gly384Arg) c.1057G>C (p.Gly353Arg) | |
| 5 | g.102390981C>T | CA360573795 | SLCO6A1 | c.1879G>A (p.Gly627Arg) c.1693G>A (p.Gly565Arg) c.1120G>A (p.Gly374Arg) n.249G>A c.1774G>A (p.Gly592Arg) c.1642G>A (p.Gly548Arg) c.1306G>A (p.Gly436Arg) c.1150G>A (p.Gly384Arg) c.1057G>A (p.Gly353Arg) | |
| 5 | g.102390982A>C | CA360573797 | SLCO6A1 | c.1878T>G (p.Phe626Leu) c.1692T>G (p.Phe564Leu) c.1119T>G (p.Phe373Leu) n.248T>G c.1773T>G (p.Phe591Leu) c.1641T>G (p.Phe547Leu) c.1305T>G (p.Phe435Leu) c.1149T>G (p.Phe383Leu) c.1056T>G (p.Phe352Leu) | |
| 5 | g.102390982A>G | CA445859897 | SLCO6A1 | c.1878T>C (p.Phe626=) c.1692T>C (p.Phe564=) c.1119T>C (p.Phe373=) n.248T>C c.1773T>C (p.Phe591=) c.1641T>C (p.Phe547=) c.1305T>C (p.Phe435=) c.1149T>C (p.Phe383=) c.1056T>C (p.Phe352=) | |
| 5 | g.102390982A>T | CA360573799 | SLCO6A1 | c.1878T>A (p.Phe626Leu) c.1692T>A (p.Phe564Leu) c.1119T>A (p.Phe373Leu) n.248T>A c.1773T>A (p.Phe591Leu) c.1641T>A (p.Phe547Leu) c.1305T>A (p.Phe435Leu) c.1149T>A (p.Phe383Leu) c.1056T>A (p.Phe352Leu) | |
| 5 | g.102390983A>C | CA360573801 | SLCO6A1 | c.1877T>G (p.Phe626Cys) c.1691T>G (p.Phe564Cys) c.1118T>G (p.Phe373Cys) n.247T>G c.1772T>G (p.Phe591Cys) c.1640T>G (p.Phe547Cys) c.1304T>G (p.Phe435Cys) c.1148T>G (p.Phe383Cys) c.1055T>G (p.Phe352Cys) | gnomAD v4 |
| 5 | g.102390983A>G | CA360573802 | SLCO6A1 | c.1877T>C (p.Phe626Ser) c.1691T>C (p.Phe564Ser) c.1118T>C (p.Phe373Ser) n.247T>C c.1772T>C (p.Phe591Ser) c.1640T>C (p.Phe547Ser) c.1304T>C (p.Phe435Ser) c.1148T>C (p.Phe383Ser) c.1055T>C (p.Phe352Ser) | |
| 5 | g.102390983A>T | CA360573804 | SLCO6A1 | c.1877T>A (p.Phe626Tyr) c.1691T>A (p.Phe564Tyr) c.1118T>A (p.Phe373Tyr) n.247T>A c.1772T>A (p.Phe591Tyr) c.1640T>A (p.Phe547Tyr) c.1304T>A (p.Phe435Tyr) c.1148T>A (p.Phe383Tyr) c.1055T>A (p.Phe352Tyr) | |
| 5 | g.102390984A>C | CA360573807 | SLCO6A1 | c.1876T>G (p.Phe626Val) c.1690T>G (p.Phe564Val) c.1117T>G (p.Phe373Val) n.246T>G c.1771T>G (p.Phe591Val) c.1639T>G (p.Phe547Val) c.1303T>G (p.Phe435Val) c.1147T>G (p.Phe383Val) c.1054T>G (p.Phe352Val) | |
| 5 | g.102390984A>G | CA360573808 | SLCO6A1 | c.1876T>C (p.Phe626Leu) c.1690T>C (p.Phe564Leu) c.1117T>C (p.Phe373Leu) n.246T>C c.1771T>C (p.Phe591Leu) c.1639T>C (p.Phe547Leu) c.1303T>C (p.Phe435Leu) c.1147T>C (p.Phe383Leu) c.1054T>C (p.Phe352Leu) | |
| 5 | g.102390984A>T | CA360573810 | SLCO6A1 | c.1876T>A (p.Phe626Ile) c.1690T>A (p.Phe564Ile) c.1117T>A (p.Phe373Ile) n.246T>A c.1771T>A (p.Phe591Ile) c.1639T>A (p.Phe547Ile) c.1303T>A (p.Phe435Ile) c.1147T>A (p.Phe383Ile) c.1054T>A (p.Phe352Ile) | |
| 5 | g.102390985T>A | CA445859898 | SLCO6A1 | c.1875A>T (p.Ile625=) c.1689A>T (p.Ile563=) c.1116A>T (p.Ile372=) n.245A>T c.1770A>T (p.Ile590=) c.1638A>T (p.Ile546=) c.1302A>T (p.Ile434=) c.1146A>T (p.Ile382=) c.1053A>T (p.Ile351=) | |
| 5 | g.102390985T>C | CA360573812 | SLCO6A1 | c.1875A>G (p.Ile625Met) c.1689A>G (p.Ile563Met) c.1116A>G (p.Ile372Met) n.245A>G c.1770A>G (p.Ile590Met) c.1638A>G (p.Ile546Met) c.1302A>G (p.Ile434Met) c.1146A>G (p.Ile382Met) c.1053A>G (p.Ile351Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.102390985T>G | CA445859899 | SLCO6A1 | c.1875A>C (p.Ile625=) c.1689A>C (p.Ile563=) c.1116A>C (p.Ile372=) n.245A>C c.1770A>C (p.Ile590=) c.1638A>C (p.Ile546=) c.1302A>C (p.Ile434=) c.1146A>C (p.Ile382=) c.1053A>C (p.Ile351=) | |
| 5 | g.102390985T= | CA1568270771 | SLCO6A1 | c.1875A= (p.Ile625=) c.1689A= (p.Ile563=) c.1116A= (p.Ile372=) n.245A= c.1770A= (p.Ile590=) c.1638A= (p.Ile546=) c.1302A= (p.Ile434=) c.1146A= (p.Ile382=) c.1053A= (p.Ile351=) | |
| 5 | g.102390986A>C | CA360573819 | SLCO6A1 | c.1874T>G (p.Ile625Arg) c.1688T>G (p.Ile563Arg) c.1115T>G (p.Ile372Arg) n.244T>G c.1769T>G (p.Ile590Arg) c.1637T>G (p.Ile546Arg) c.1301T>G (p.Ile434Arg) c.1145T>G (p.Ile382Arg) c.1052T>G (p.Ile351Arg) | |
| 5 | g.102390986A>G | CA360573817 | SLCO6A1 | c.1874T>C (p.Ile625Thr) c.1688T>C (p.Ile563Thr) c.1115T>C (p.Ile372Thr) n.244T>C c.1769T>C (p.Ile590Thr) c.1637T>C (p.Ile546Thr) c.1301T>C (p.Ile434Thr) c.1145T>C (p.Ile382Thr) c.1052T>C (p.Ile351Thr) | |
| 5 | g.102390986A>T | CA360573815 | SLCO6A1 | c.1874T>A (p.Ile625Lys) c.1688T>A (p.Ile563Lys) c.1115T>A (p.Ile372Lys) n.244T>A c.1769T>A (p.Ile590Lys) c.1637T>A (p.Ile546Lys) c.1301T>A (p.Ile434Lys) c.1145T>A (p.Ile382Lys) c.1052T>A (p.Ile351Lys) | |
| 5 | g.102390987T>A | CA360573821 | SLCO6A1 | c.1873A>T (p.Ile625Leu) c.1687A>T (p.Ile563Leu) c.1114A>T (p.Ile372Leu) n.243A>T c.1768A>T (p.Ile590Leu) c.1636A>T (p.Ile546Leu) c.1300A>T (p.Ile434Leu) c.1144A>T (p.Ile382Leu) c.1051A>T (p.Ile351Leu) | |
| 5 | g.102390987T>C | CA360573823 | SLCO6A1 | c.1873A>G (p.Ile625Val) c.1687A>G (p.Ile563Val) c.1114A>G (p.Ile372Val) n.243A>G c.1768A>G (p.Ile590Val) c.1636A>G (p.Ile546Val) c.1300A>G (p.Ile434Val) c.1144A>G (p.Ile382Val) c.1051A>G (p.Ile351Val) | |
| 5 | g.102390987T>G | CA360573825 | SLCO6A1 | c.1873A>C (p.Ile625Leu) c.1687A>C (p.Ile563Leu) c.1114A>C (p.Ile372Leu) n.243A>C c.1768A>C (p.Ile590Leu) c.1636A>C (p.Ile546Leu) c.1300A>C (p.Ile434Leu) c.1144A>C (p.Ile382Leu) c.1051A>C (p.Ile351Leu) | |
| 5 | g.102390988T>A | CA360573827 | SLCO6A1 | c.1872A>T (p.Arg624Ser) c.1686A>T (p.Arg562Ser) c.1113A>T (p.Arg371Ser) n.242A>T c.1767A>T (p.Arg589Ser) c.1635A>T (p.Arg545Ser) c.1299A>T (p.Arg433Ser) c.1143A>T (p.Arg381Ser) c.1050A>T (p.Arg350Ser) | |
| 5 | g.102390988T>C | CA445859900 | SLCO6A1 | c.1872A>G (p.Arg624=) c.1686A>G (p.Arg562=) c.1113A>G (p.Arg371=) n.242A>G c.1767A>G (p.Arg589=) c.1635A>G (p.Arg545=) c.1299A>G (p.Arg433=) c.1143A>G (p.Arg381=) c.1050A>G (p.Arg350=) | |
| 5 | g.102390988T>G | CA360573829 | SLCO6A1 | c.1872A>C (p.Arg624Ser) c.1686A>C (p.Arg562Ser) c.1113A>C (p.Arg371Ser) n.242A>C c.1767A>C (p.Arg589Ser) c.1635A>C (p.Arg545Ser) c.1299A>C (p.Arg433Ser) c.1143A>C (p.Arg381Ser) c.1050A>C (p.Arg350Ser) | |
| 5 | g.102390989C>A | CA360573832 | SLCO6A1 | c.1871G>T (p.Arg624Ile) c.1685G>T (p.Arg562Ile) c.1112G>T (p.Arg371Ile) n.241G>T c.1766G>T (p.Arg589Ile) c.1634G>T (p.Arg545Ile) c.1298G>T (p.Arg433Ile) c.1142G>T (p.Arg381Ile) c.1049G>T (p.Arg350Ile) | |
| 5 | g.102390989C>G | CA360573833 | SLCO6A1 | c.1871G>C (p.Arg624Thr) c.1685G>C (p.Arg562Thr) c.1112G>C (p.Arg371Thr) n.241G>C c.1766G>C (p.Arg589Thr) c.1634G>C (p.Arg545Thr) c.1298G>C (p.Arg433Thr) c.1142G>C (p.Arg381Thr) c.1049G>C (p.Arg350Thr) | |
| 5 | g.102390989C>T | CA360573835 | SLCO6A1 | c.1871G>A (p.Arg624Lys) c.1685G>A (p.Arg562Lys) c.1112G>A (p.Arg371Lys) n.241G>A c.1766G>A (p.Arg589Lys) c.1634G>A (p.Arg545Lys) c.1298G>A (p.Arg433Lys) c.1142G>A (p.Arg381Lys) c.1049G>A (p.Arg350Lys) | COSMIC |
| 5 | g.102390990T>A | CA360573837 | SLCO6A1 | c.1870A>T (p.Arg624Ter) c.1684A>T (p.Arg562Ter) c.1111A>T (p.Arg371Ter) n.240A>T c.1765A>T (p.Arg589Ter) c.1633A>T (p.Arg545Ter) c.1297A>T (p.Arg433Ter) c.1141A>T (p.Arg381Ter) c.1048A>T (p.Arg350Ter) | |
| 5 | g.102390990T>C | CA360573839 | SLCO6A1 | c.1870A>G (p.Arg624Gly) c.1684A>G (p.Arg562Gly) c.1111A>G (p.Arg371Gly) n.240A>G c.1765A>G (p.Arg589Gly) c.1633A>G (p.Arg545Gly) c.1297A>G (p.Arg433Gly) c.1141A>G (p.Arg381Gly) c.1048A>G (p.Arg350Gly) | |
| 5 | g.102390990T>G | CA445859901 | SLCO6A1 | c.1870A>C (p.Arg624=) c.1684A>C (p.Arg562=) c.1111A>C (p.Arg371=) n.240A>C c.1765A>C (p.Arg589=) c.1633A>C (p.Arg545=) c.1297A>C (p.Arg433=) c.1141A>C (p.Arg381=) c.1048A>C (p.Arg350=) | |
| 5 | g.102390991C>A | CA360573841 | SLCO6A1 | c.1869G>T (p.Leu623Phe) c.1683G>T (p.Leu561Phe) c.1110G>T (p.Leu370Phe) n.239G>T c.1764G>T (p.Leu588Phe) c.1632G>T (p.Leu544Phe) c.1296G>T (p.Leu432Phe) c.1140G>T (p.Leu380Phe) c.1047G>T (p.Leu349Phe) | |
| 5 | g.102390991C= | CA1568270772 | SLCO6A1 | c.1869G= (p.Leu623=) c.1683G= (p.Leu561=) c.1110G= (p.Leu370=) n.239G= c.1764G= (p.Leu588=) c.1632G= (p.Leu544=) c.1296G= (p.Leu432=) c.1140G= (p.Leu380=) c.1047G= (p.Leu349=) | |
| 5 | g.102390991C>G | CA360573843 | SLCO6A1 | c.1869G>C (p.Leu623Phe) c.1683G>C (p.Leu561Phe) c.1110G>C (p.Leu370Phe) n.239G>C c.1764G>C (p.Leu588Phe) c.1632G>C (p.Leu544Phe) c.1296G>C (p.Leu432Phe) c.1140G>C (p.Leu380Phe) c.1047G>C (p.Leu349Phe) | |
| 5 | g.102390991C>T | CA445859902 | SLCO6A1 | c.1869G>A (p.Leu623=) c.1683G>A (p.Leu561=) c.1110G>A (p.Leu370=) n.239G>A c.1764G>A (p.Leu588=) c.1632G>A (p.Leu544=) c.1296G>A (p.Leu432=) c.1140G>A (p.Leu380=) c.1047G>A (p.Leu349=) | |
| 5 | g.102390992A>C | CA360573845 | SLCO6A1 | c.1868T>G (p.Leu623Trp) c.1682T>G (p.Leu561Trp) c.1109T>G (p.Leu370Trp) n.238T>G c.1763T>G (p.Leu588Trp) c.1631T>G (p.Leu544Trp) c.1295T>G (p.Leu432Trp) c.1139T>G (p.Leu380Trp) c.1046T>G (p.Leu349Trp) | |
| 5 | g.102390992A>G | CA360573849 | SLCO6A1 | c.1868T>C (p.Leu623Ser) c.1682T>C (p.Leu561Ser) c.1109T>C (p.Leu370Ser) n.238T>C c.1763T>C (p.Leu588Ser) c.1631T>C (p.Leu544Ser) c.1295T>C (p.Leu432Ser) c.1139T>C (p.Leu380Ser) c.1046T>C (p.Leu349Ser) | |
| 5 | g.102390992A>T | CA360573847 | SLCO6A1 | c.1868T>A (p.Leu623Ter) c.1682T>A (p.Leu561Ter) c.1109T>A (p.Leu370Ter) n.238T>A c.1763T>A (p.Leu588Ter) c.1631T>A (p.Leu544Ter) c.1295T>A (p.Leu432Ter) c.1139T>A (p.Leu380Ter) c.1046T>A (p.Leu349Ter) | |
| 5 | g.102390995dup | CA561319488 | SLCO6A1 | c.1868dup (p.Leu623PhefsTer14) c.1682dup (p.Leu561PhefsTer14) c.1109dup (p.Leu370PhefsTer14) n.238dup c.1763dup (p.Leu588PhefsTer14) c.1631dup (p.Leu544PhefsTer14) c.1295dup (p.Leu432PhefsTer14) c.1139dup (p.Leu380PhefsTer14) c.1046dup (p.Leu349PhefsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.102390993A>C | CA360573851 | SLCO6A1 | c.1867T>G (p.Leu623Val) c.1681T>G (p.Leu561Val) c.1108T>G (p.Leu370Val) n.237T>G c.1762T>G (p.Leu588Val) c.1630T>G (p.Leu544Val) c.1294T>G (p.Leu432Val) c.1138T>G (p.Leu380Val) c.1045T>G (p.Leu349Val) | |
| 5 | g.102390993A>G | CA445859903 | SLCO6A1 | c.1867T>C (p.Leu623=) c.1681T>C (p.Leu561=) c.1108T>C (p.Leu370=) n.237T>C c.1762T>C (p.Leu588=) c.1630T>C (p.Leu544=) c.1294T>C (p.Leu432=) c.1138T>C (p.Leu380=) c.1045T>C (p.Leu349=) | |
| 5 | g.102390993A>T | CA360573853 | SLCO6A1 | c.1867T>A (p.Leu623Met) c.1681T>A (p.Leu561Met) c.1108T>A (p.Leu370Met) n.237T>A c.1762T>A (p.Leu588Met) c.1630T>A (p.Leu544Met) c.1294T>A (p.Leu432Met) c.1138T>A (p.Leu380Met) c.1045T>A (p.Leu349Met) | |
| 5 | g.102390994A>C | CA360573855 | SLCO6A1 | c.1866T>G (p.Ile622Met) c.1680T>G (p.Ile560Met) c.1107T>G (p.Ile369Met) n.236T>G c.1761T>G (p.Ile587Met) c.1629T>G (p.Ile543Met) c.1293T>G (p.Ile431Met) c.1137T>G (p.Ile379Met) c.1044T>G (p.Ile348Met) | |
| 5 | g.102390994A>G | CA445859904 | SLCO6A1 | c.1866T>C (p.Ile622=) c.1680T>C (p.Ile560=) c.1107T>C (p.Ile369=) n.236T>C c.1761T>C (p.Ile587=) c.1629T>C (p.Ile543=) c.1293T>C (p.Ile431=) c.1137T>C (p.Ile379=) c.1044T>C (p.Ile348=) | |
| 5 | g.102390994A>T | CA445859905 | SLCO6A1 | c.1866T>A (p.Ile622=) c.1680T>A (p.Ile560=) c.1107T>A (p.Ile369=) n.236T>A c.1761T>A (p.Ile587=) c.1629T>A (p.Ile543=) c.1293T>A (p.Ile431=) c.1137T>A (p.Ile379=) c.1044T>A (p.Ile348=) | |
| 5 | g.102390995A>C | CA360573857 | SLCO6A1 | c.1865T>G (p.Ile622Ser) c.1679T>G (p.Ile560Ser) c.1106T>G (p.Ile369Ser) n.235T>G c.1760T>G (p.Ile587Ser) c.1628T>G (p.Ile543Ser) c.1292T>G (p.Ile431Ser) c.1136T>G (p.Ile379Ser) c.1043T>G (p.Ile348Ser) | |
| 5 | g.102390995A>G | CA360573859 | SLCO6A1 | c.1865T>C (p.Ile622Thr) c.1679T>C (p.Ile560Thr) c.1106T>C (p.Ile369Thr) n.235T>C c.1760T>C (p.Ile587Thr) c.1628T>C (p.Ile543Thr) c.1292T>C (p.Ile431Thr) c.1136T>C (p.Ile379Thr) c.1043T>C (p.Ile348Thr) | |
| 5 | g.102390995A>T | CA360573861 | SLCO6A1 | c.1865T>A (p.Ile622Asn) c.1679T>A (p.Ile560Asn) c.1106T>A (p.Ile369Asn) n.235T>A c.1760T>A (p.Ile587Asn) c.1628T>A (p.Ile543Asn) c.1292T>A (p.Ile431Asn) c.1136T>A (p.Ile379Asn) c.1043T>A (p.Ile348Asn) | |
| 5 | g.102390996T>A | CA360573863 | SLCO6A1 | c.1864A>T (p.Ile622Phe) c.1678A>T (p.Ile560Phe) c.1105A>T (p.Ile369Phe) n.234A>T c.1759A>T (p.Ile587Phe) c.1627A>T (p.Ile543Phe) c.1291A>T (p.Ile431Phe) c.1135A>T (p.Ile379Phe) c.1042A>T (p.Ile348Phe) | |
| 5 | g.102390996T>C | CA360573864 | SLCO6A1 | c.1864A>G (p.Ile622Val) c.1678A>G (p.Ile560Val) c.1105A>G (p.Ile369Val) n.234A>G c.1759A>G (p.Ile587Val) c.1627A>G (p.Ile543Val) c.1291A>G (p.Ile431Val) c.1135A>G (p.Ile379Val) c.1042A>G (p.Ile348Val) | dbSNP gnomAD v4 |
| 5 | g.102390996T>G | CA360573865 | SLCO6A1 | c.1864A>C (p.Ile622Leu) c.1678A>C (p.Ile560Leu) c.1105A>C (p.Ile369Leu) n.234A>C c.1759A>C (p.Ile587Leu) c.1627A>C (p.Ile543Leu) c.1291A>C (p.Ile431Leu) c.1135A>C (p.Ile379Leu) c.1042A>C (p.Ile348Leu) | |
| 5 | g.102390996T= | CA1568270773 | SLCO6A1 | c.1864A= (p.Ile622=) c.1678A= (p.Ile560=) c.1105A= (p.Ile369=) n.234A= c.1759A= (p.Ile587=) c.1627A= (p.Ile543=) c.1291A= (p.Ile431=) c.1135A= (p.Ile379=) c.1042A= (p.Ile348=) | |
| 5 | g.102390997C>A | CA445859906 | SLCO6A1 | c.1863G>T (p.Val621=) c.1677G>T (p.Val559=) c.1104G>T (p.Val368=) n.233G>T c.1758G>T (p.Val586=) c.1626G>T (p.Val542=) c.1290G>T (p.Val430=) c.1134G>T (p.Val378=) c.1041G>T (p.Val347=) | |
| 5 | g.102390997C>G | CA445859907 | SLCO6A1 | c.1863G>C (p.Val621=) c.1677G>C (p.Val559=) c.1104G>C (p.Val368=) n.233G>C c.1758G>C (p.Val586=) c.1626G>C (p.Val542=) c.1290G>C (p.Val430=) c.1134G>C (p.Val378=) c.1041G>C (p.Val347=) | |
| 5 | g.102390997C>T | CA445859908 | SLCO6A1 | c.1863G>A (p.Val621=) c.1677G>A (p.Val559=) c.1104G>A (p.Val368=) n.233G>A c.1758G>A (p.Val586=) c.1626G>A (p.Val542=) c.1290G>A (p.Val430=) c.1134G>A (p.Val378=) c.1041G>A (p.Val347=) | |
| 5 | g.102390998A= | CA1568270774 | SLCO6A1 | c.1862T= (p.Val621=) c.1676T= (p.Val559=) c.1103T= (p.Val368=) n.232T= c.1757T= (p.Val586=) c.1625T= (p.Val542=) c.1289T= (p.Val430=) c.1133T= (p.Val378=) c.1040T= (p.Val347=) | |
| 5 | g.102390998A>C | CA360573871 | SLCO6A1 | c.1862T>G (p.Val621Gly) c.1676T>G (p.Val559Gly) c.1103T>G (p.Val368Gly) n.232T>G c.1757T>G (p.Val586Gly) c.1625T>G (p.Val542Gly) c.1289T>G (p.Val430Gly) c.1133T>G (p.Val378Gly) c.1040T>G (p.Val347Gly) | dbSNP gnomAD v4 |
| 5 | g.102390998A>G | CA360573868 | SLCO6A1 | c.1862T>C (p.Val621Ala) c.1676T>C (p.Val559Ala) c.1103T>C (p.Val368Ala) n.232T>C c.1757T>C (p.Val586Ala) c.1625T>C (p.Val542Ala) c.1289T>C (p.Val430Ala) c.1133T>C (p.Val378Ala) c.1040T>C (p.Val347Ala) | COSMIC |
| 5 | g.102390998A>T | CA360573869 | SLCO6A1 | c.1862T>A (p.Val621Glu) c.1676T>A (p.Val559Glu) c.1103T>A (p.Val368Glu) n.232T>A c.1757T>A (p.Val586Glu) c.1625T>A (p.Val542Glu) c.1289T>A (p.Val430Glu) c.1133T>A (p.Val378Glu) c.1040T>A (p.Val347Glu) | |
| 5 | g.102390998_102390999insAATTATCAAATAAAATATG | CA2567262241 | SLCO6A1 | c.1861_1862insCATATTTTATTTGATAATT (p.Val621AlafsTer5) c.1675_1676insCATATTTTATTTGATAATT (p.Val559AlafsTer5) c.1102_1103insCATATTTTATTTGATAATT (p.Val368AlafsTer5) n.231_232insCATATTTTATTTGATAATT c.1756_1757insCATATTTTATTTGATAATT (p.Val586AlafsTer5) c.1624_1625insCATATTTTATTTGATAATT (p.Val542AlafsTer5) c.1288_1289insCATATTTTATTTGATAATT (p.Val430AlafsTer5) c.1132_1133insCATATTTTATTTGATAATT (p.Val378AlafsTer5) c.1039_1040insCATATTTTATTTGATAATT (p.Val347AlafsTer5) | |
| 5 | g.102390999C>A | CA360573874 | SLCO6A1 | c.1861G>T (p.Val621Leu) c.1675G>T (p.Val559Leu) c.1102G>T (p.Val368Leu) n.231G>T c.1756G>T (p.Val586Leu) c.1624G>T (p.Val542Leu) c.1288G>T (p.Val430Leu) c.1132G>T (p.Val378Leu) c.1039G>T (p.Val347Leu) | |
| 5 | g.102390999C>G | CA360573876 | SLCO6A1 | c.1861G>C (p.Val621Leu) c.1675G>C (p.Val559Leu) c.1102G>C (p.Val368Leu) n.231G>C c.1756G>C (p.Val586Leu) c.1624G>C (p.Val542Leu) c.1288G>C (p.Val430Leu) c.1132G>C (p.Val378Leu) c.1039G>C (p.Val347Leu) | |
| 5 | g.102390999C>T | CA360573878 | SLCO6A1 | c.1861G>A (p.Val621Met) c.1675G>A (p.Val559Met) c.1102G>A (p.Val368Met) n.231G>A c.1756G>A (p.Val586Met) c.1624G>A (p.Val542Met) c.1288G>A (p.Val430Met) c.1132G>A (p.Val378Met) c.1039G>A (p.Val347Met) | gnomAD v4 |
| 5 | g.102391000A>C | CA360573880 | SLCO6A1 | c.1860T>G (p.Tyr620Ter) c.1674T>G (p.Tyr558Ter) c.1101T>G (p.Tyr367Ter) n.230T>G c.1755T>G (p.Tyr585Ter) c.1623T>G (p.Tyr541Ter) c.1287T>G (p.Tyr429Ter) c.1131T>G (p.Tyr377Ter) c.1038T>G (p.Tyr346Ter) | |
| 5 | g.102391000A>G | CA445859909 | SLCO6A1 | c.1860T>C (p.Tyr620=) c.1674T>C (p.Tyr558=) c.1101T>C (p.Tyr367=) n.230T>C c.1755T>C (p.Tyr585=) c.1623T>C (p.Tyr541=) c.1287T>C (p.Tyr429=) c.1131T>C (p.Tyr377=) c.1038T>C (p.Tyr346=) | |
| 5 | g.102391000A>T | CA360573881 | SLCO6A1 | c.1860T>A (p.Tyr620Ter) c.1674T>A (p.Tyr558Ter) c.1101T>A (p.Tyr367Ter) n.230T>A c.1755T>A (p.Tyr585Ter) c.1623T>A (p.Tyr541Ter) c.1287T>A (p.Tyr429Ter) c.1131T>A (p.Tyr377Ter) c.1038T>A (p.Tyr346Ter) | |
| 5 | g.102391001T>A | CA360573884 | SLCO6A1 | c.1859A>T (p.Tyr620Phe) c.1673A>T (p.Tyr558Phe) c.1100A>T (p.Tyr367Phe) n.229A>T c.1754A>T (p.Tyr585Phe) c.1622A>T (p.Tyr541Phe) c.1286A>T (p.Tyr429Phe) c.1130A>T (p.Tyr377Phe) c.1037A>T (p.Tyr346Phe) | |
| 5 | g.102391001T>C | CA360573888 | SLCO6A1 | c.1859A>G (p.Tyr620Cys) c.1673A>G (p.Tyr558Cys) c.1100A>G (p.Tyr367Cys) n.229A>G c.1754A>G (p.Tyr585Cys) c.1622A>G (p.Tyr541Cys) c.1286A>G (p.Tyr429Cys) c.1130A>G (p.Tyr377Cys) c.1037A>G (p.Tyr346Cys) | dbSNP |
| 5 | g.102391001T>G | CA360573885 | SLCO6A1 | c.1859A>C (p.Tyr620Ser) c.1673A>C (p.Tyr558Ser) c.1100A>C (p.Tyr367Ser) n.229A>C c.1754A>C (p.Tyr585Ser) c.1622A>C (p.Tyr541Ser) c.1286A>C (p.Tyr429Ser) c.1130A>C (p.Tyr377Ser) c.1037A>C (p.Tyr346Ser) | |
| 5 | g.102391002A>C | CA360573890 | SLCO6A1 | c.1858T>G (p.Tyr620Asp) c.1672T>G (p.Tyr558Asp) c.1099T>G (p.Tyr367Asp) n.228T>G c.1753T>G (p.Tyr585Asp) c.1621T>G (p.Tyr541Asp) c.1285T>G (p.Tyr429Asp) c.1129T>G (p.Tyr377Asp) c.1036T>G (p.Tyr346Asp) | |
| 5 | g.102391002A>G | CA360573891 | SLCO6A1 | c.1858T>C (p.Tyr620His) c.1672T>C (p.Tyr558His) c.1099T>C (p.Tyr367His) n.228T>C c.1753T>C (p.Tyr585His) c.1621T>C (p.Tyr541His) c.1285T>C (p.Tyr429His) c.1129T>C (p.Tyr377His) c.1036T>C (p.Tyr346His) | |
| 5 | g.102391002A>T | CA360573893 | SLCO6A1 | c.1858T>A (p.Tyr620Asn) c.1672T>A (p.Tyr558Asn) c.1099T>A (p.Tyr367Asn) n.228T>A c.1753T>A (p.Tyr585Asn) c.1621T>A (p.Tyr541Asn) c.1285T>A (p.Tyr429Asn) c.1129T>A (p.Tyr377Asn) c.1036T>A (p.Tyr346Asn) | |
| 5 | g.102391002_102391003insTTATATTCGA | CA2512430211 | SLCO6A1 | c.1858_1859insCGAATATAAT (p.Tyr620SerfsTer20) c.1672_1673insCGAATATAAT (p.Tyr558SerfsTer20) c.1099_1100insCGAATATAAT (p.Tyr367SerfsTer20) n.228_229insCGAATATAAT c.1753_1754insCGAATATAAT (p.Tyr585SerfsTer20) c.1621_1622insCGAATATAAT (p.Tyr541SerfsTer20) c.1285_1286insCGAATATAAT (p.Tyr429SerfsTer20) c.1129_1130insCGAATATAAT (p.Tyr377SerfsTer20) c.1036_1037insCGAATATAAT (p.Tyr346SerfsTer20) | |
| 5 | g.102391003G>A | CA445859910 | SLCO6A1 | c.1857C>T (p.Ser619=) c.1671C>T (p.Ser557=) c.1098C>T (p.Ser366=) n.227C>T c.1752C>T (p.Ser584=) c.1620C>T (p.Ser540=) c.1284C>T (p.Ser428=) c.1128C>T (p.Ser376=) c.1035C>T (p.Ser345=) | |
| 5 | g.102391003G>C | CA360573896 | SLCO6A1 | c.1857C>G (p.Ser619Arg) c.1671C>G (p.Ser557Arg) c.1098C>G (p.Ser366Arg) n.227C>G c.1752C>G (p.Ser584Arg) c.1620C>G (p.Ser540Arg) c.1284C>G (p.Ser428Arg) c.1128C>G (p.Ser376Arg) c.1035C>G (p.Ser345Arg) | |
| 5 | g.102391003G= | CA1568270775 | SLCO6A1 | c.1857C= (p.Ser619=) c.1671C= (p.Ser557=) c.1098C= (p.Ser366=) n.227C= c.1752C= (p.Ser584=) c.1620C= (p.Ser540=) c.1284C= (p.Ser428=) c.1128C= (p.Ser376=) c.1035C= (p.Ser345=) | |
| 5 | g.102391003G>T | CA360573897 | SLCO6A1 | c.1857C>A (p.Ser619Arg) c.1671C>A (p.Ser557Arg) c.1098C>A (p.Ser366Arg) n.227C>A c.1752C>A (p.Ser584Arg) c.1620C>A (p.Ser540Arg) c.1284C>A (p.Ser428Arg) c.1128C>A (p.Ser376Arg) c.1035C>A (p.Ser345Arg) | dbSNP |
| 5 | g.102391004C>A | CA360573900 | SLCO6A1 | c.1856G>T (p.Ser619Ile) c.1670G>T (p.Ser557Ile) c.1097G>T (p.Ser366Ile) n.226G>T c.1751G>T (p.Ser584Ile) c.1619G>T (p.Ser540Ile) c.1283G>T (p.Ser428Ile) c.1127G>T (p.Ser376Ile) c.1034G>T (p.Ser345Ile) | gnomAD v4 |
| 5 | g.102391004C= | CA1568270776 | SLCO6A1 | c.1856G= (p.Ser619=) c.1670G= (p.Ser557=) c.1097G= (p.Ser366=) n.226G= c.1751G= (p.Ser584=) c.1619G= (p.Ser540=) c.1283G= (p.Ser428=) c.1127G= (p.Ser376=) c.1034G= (p.Ser345=) | |
| 5 | g.102391004C>G | CA360573902 | SLCO6A1 | c.1856G>C (p.Ser619Thr) c.1670G>C (p.Ser557Thr) c.1097G>C (p.Ser366Thr) n.226G>C c.1751G>C (p.Ser584Thr) c.1619G>C (p.Ser540Thr) c.1283G>C (p.Ser428Thr) c.1127G>C (p.Ser376Thr) c.1034G>C (p.Ser345Thr) | dbSNP |
| 5 | g.102391004C>T | CA360573903 | SLCO6A1 | c.1856G>A (p.Ser619Asn) c.1670G>A (p.Ser557Asn) c.1097G>A (p.Ser366Asn) n.226G>A c.1751G>A (p.Ser584Asn) c.1619G>A (p.Ser540Asn) c.1283G>A (p.Ser428Asn) c.1127G>A (p.Ser376Asn) c.1034G>A (p.Ser345Asn) | |
| 5 | g.102391005T>A | CA360573905 | SLCO6A1 | c.1855A>T (p.Ser619Cys) c.1669A>T (p.Ser557Cys) c.1096A>T (p.Ser366Cys) n.225A>T c.1750A>T (p.Ser584Cys) c.1618A>T (p.Ser540Cys) c.1282A>T (p.Ser428Cys) c.1126A>T (p.Ser376Cys) c.1033A>T (p.Ser345Cys) | |
| 5 | g.102391005T>C | CA360573907 | SLCO6A1 | c.1855A>G (p.Ser619Gly) c.1669A>G (p.Ser557Gly) c.1096A>G (p.Ser366Gly) n.225A>G c.1750A>G (p.Ser584Gly) c.1618A>G (p.Ser540Gly) c.1282A>G (p.Ser428Gly) c.1126A>G (p.Ser376Gly) c.1033A>G (p.Ser345Gly) | |
| 5 | g.102391005T>G | CA360573908 | SLCO6A1 | c.1855A>C (p.Ser619Arg) c.1669A>C (p.Ser557Arg) c.1096A>C (p.Ser366Arg) n.225A>C c.1750A>C (p.Ser584Arg) c.1618A>C (p.Ser540Arg) c.1282A>C (p.Ser428Arg) c.1126A>C (p.Ser376Arg) c.1033A>C (p.Ser345Arg) | |
| 5 | g.102391006T>A | CA445859912 | SLCO6A1 | c.1854A>T (p.Val618=) c.1668A>T (p.Val556=) c.1095A>T (p.Val365=) n.224A>T c.1749A>T (p.Val583=) c.1617A>T (p.Val539=) c.1281A>T (p.Val427=) c.1125A>T (p.Val375=) c.1032A>T (p.Val344=) | |
| 5 | g.102391006T>C | CA445859911 | SLCO6A1 | c.1854A>G (p.Val618=) c.1668A>G (p.Val556=) c.1095A>G (p.Val365=) n.224A>G c.1749A>G (p.Val583=) c.1617A>G (p.Val539=) c.1281A>G (p.Val427=) c.1125A>G (p.Val375=) c.1032A>G (p.Val344=) | |
| 5 | g.102391006T>G | CA445859913 | SLCO6A1 | c.1854A>C (p.Val618=) c.1668A>C (p.Val556=) c.1095A>C (p.Val365=) n.224A>C c.1749A>C (p.Val583=) c.1617A>C (p.Val539=) c.1281A>C (p.Val427=) c.1125A>C (p.Val375=) c.1032A>C (p.Val344=) | |
| 5 | g.102391006_102391007dup | CA2578371578 | SLCO6A1 | c.1853_1854dup (p.Ser619Ter) c.1667_1668dup (p.Ser557Ter) c.1094_1095dup (p.Ser366Ter) n.223_224dup c.1748_1749dup (p.Ser584Ter) c.1616_1617dup (p.Ser540Ter) c.1280_1281dup (p.Ser428Ter) c.1124_1125dup (p.Ser376Ter) c.1031_1032dup (p.Ser345Ter) | |
| 5 | g.102391007A= | CA1568270777 | SLCO6A1 | c.1853T= (p.Val618=) c.1667T= (p.Val556=) c.1094T= (p.Val365=) n.223T= c.1748T= (p.Val583=) c.1616T= (p.Val539=) c.1280T= (p.Val427=) c.1124T= (p.Val375=) c.1031T= (p.Val344=) | |
| 5 | g.102391007A>C | CA360573910 | SLCO6A1 | c.1853T>G (p.Val618Gly) c.1667T>G (p.Val556Gly) c.1094T>G (p.Val365Gly) n.223T>G c.1748T>G (p.Val583Gly) c.1616T>G (p.Val539Gly) c.1280T>G (p.Val427Gly) c.1124T>G (p.Val375Gly) c.1031T>G (p.Val344Gly) | |
| 5 | g.102391007A>G | CA360573913 | SLCO6A1 | c.1853T>C (p.Val618Ala) c.1667T>C (p.Val556Ala) c.1094T>C (p.Val365Ala) n.223T>C c.1748T>C (p.Val583Ala) c.1616T>C (p.Val539Ala) c.1280T>C (p.Val427Ala) c.1124T>C (p.Val375Ala) c.1031T>C (p.Val344Ala) | dbSNP |
| 5 | g.102391007A>T | CA360573911 | SLCO6A1 | c.1853T>A (p.Val618Glu) c.1667T>A (p.Val556Glu) c.1094T>A (p.Val365Glu) n.223T>A c.1748T>A (p.Val583Glu) c.1616T>A (p.Val539Glu) c.1280T>A (p.Val427Glu) c.1124T>A (p.Val375Glu) c.1031T>A (p.Val344Glu) | |
| 5 | g.102391008C>A | CA360573915 | SLCO6A1 | c.1852G>T (p.Val618Leu) c.1666G>T (p.Val556Leu) c.1093G>T (p.Val365Leu) n.222G>T c.1747G>T (p.Val583Leu) c.1615G>T (p.Val539Leu) c.1279G>T (p.Val427Leu) c.1123G>T (p.Val375Leu) c.1030G>T (p.Val344Leu) | |
| 5 | g.102391008C= | CA1568270778 | SLCO6A1 | c.1852G= (p.Val618=) c.1666G= (p.Val556=) c.1093G= (p.Val365=) n.222G= c.1747G= (p.Val583=) c.1615G= (p.Val539=) c.1279G= (p.Val427=) c.1123G= (p.Val375=) c.1030G= (p.Val344=) | |
| 5 | g.102391008C>G | CA360573918 | SLCO6A1 | c.1852G>C (p.Val618Leu) c.1666G>C (p.Val556Leu) c.1093G>C (p.Val365Leu) n.222G>C c.1747G>C (p.Val583Leu) c.1615G>C (p.Val539Leu) c.1279G>C (p.Val427Leu) c.1123G>C (p.Val375Leu) c.1030G>C (p.Val344Leu) | |
| 5 | g.102391008C>T | CA360573919 | SLCO6A1 | c.1852G>A (p.Val618Ile) c.1666G>A (p.Val556Ile) c.1093G>A (p.Val365Ile) n.222G>A c.1747G>A (p.Val583Ile) c.1615G>A (p.Val539Ile) c.1279G>A (p.Val427Ile) c.1123G>A (p.Val375Ile) c.1030G>A (p.Val344Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.102391009A>C | CA445859914 | SLCO6A1 | c.1851T>G (p.Gly617=) c.1665T>G (p.Gly555=) c.1092T>G (p.Gly364=) n.221T>G c.1746T>G (p.Gly582=) c.1614T>G (p.Gly538=) c.1278T>G (p.Gly426=) c.1122T>G (p.Gly374=) c.1029T>G (p.Gly343=) | |
| 5 | g.102391009A>G | CA445859916 | SLCO6A1 | c.1851T>C (p.Gly617=) c.1665T>C (p.Gly555=) c.1092T>C (p.Gly364=) n.221T>C c.1746T>C (p.Gly582=) c.1614T>C (p.Gly538=) c.1278T>C (p.Gly426=) c.1122T>C (p.Gly374=) c.1029T>C (p.Gly343=) | |
| 5 | g.102391009A>T | CA445859915 | SLCO6A1 | c.1851T>A (p.Gly617=) c.1665T>A (p.Gly555=) c.1092T>A (p.Gly364=) n.221T>A c.1746T>A (p.Gly582=) c.1614T>A (p.Gly538=) c.1278T>A (p.Gly426=) c.1122T>A (p.Gly374=) c.1029T>A (p.Gly343=) | |
| 5 | g.102391010C>A | CA360573921 | SLCO6A1 | c.1850G>T (p.Gly617Val) c.1664G>T (p.Gly555Val) c.1091G>T (p.Gly364Val) n.220G>T c.1745G>T (p.Gly582Val) c.1613G>T (p.Gly538Val) c.1277G>T (p.Gly426Val) c.1121G>T (p.Gly374Val) c.1028G>T (p.Gly343Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.102391010C= | CA1568270779 | SLCO6A1 | c.1850G= (p.Gly617=) c.1664G= (p.Gly555=) c.1091G= (p.Gly364=) n.220G= c.1745G= (p.Gly582=) c.1613G= (p.Gly538=) c.1277G= (p.Gly426=) c.1121G= (p.Gly374=) c.1028G= (p.Gly343=) | |
| 5 | g.102391010C>G | CA360573923 | SLCO6A1 | c.1850G>C (p.Gly617Ala) c.1664G>C (p.Gly555Ala) c.1091G>C (p.Gly364Ala) n.220G>C c.1745G>C (p.Gly582Ala) c.1613G>C (p.Gly538Ala) c.1277G>C (p.Gly426Ala) c.1121G>C (p.Gly374Ala) c.1028G>C (p.Gly343Ala) | |
| 5 | g.102391010C>T | CA360573925 | SLCO6A1 | c.1850G>A (p.Gly617Asp) c.1664G>A (p.Gly555Asp) c.1091G>A (p.Gly364Asp) n.220G>A c.1745G>A (p.Gly582Asp) c.1613G>A (p.Gly538Asp) c.1277G>A (p.Gly426Asp) c.1121G>A (p.Gly374Asp) c.1028G>A (p.Gly343Asp) | gnomAD v4 |
| 5 | g.102391011C>A | CA360573928 | SLCO6A1 | c.1849G>T (p.Gly617Cys) c.1663G>T (p.Gly555Cys) c.1090G>T (p.Gly364Cys) n.219G>T c.1744G>T (p.Gly582Cys) c.1612G>T (p.Gly538Cys) c.1276G>T (p.Gly426Cys) c.1120G>T (p.Gly374Cys) c.1027G>T (p.Gly343Cys) | gnomAD v4 |
| 5 | g.102391011C>G | CA360573929 | SLCO6A1 | c.1849G>C (p.Gly617Arg) c.1663G>C (p.Gly555Arg) c.1090G>C (p.Gly364Arg) n.219G>C c.1744G>C (p.Gly582Arg) c.1612G>C (p.Gly538Arg) c.1276G>C (p.Gly426Arg) c.1120G>C (p.Gly374Arg) c.1027G>C (p.Gly343Arg) | |
| 5 | g.102391011C>T | CA360573931 | SLCO6A1 | c.1849G>A (p.Gly617Ser) c.1663G>A (p.Gly555Ser) c.1090G>A (p.Gly364Ser) n.219G>A c.1744G>A (p.Gly582Ser) c.1612G>A (p.Gly538Ser) c.1276G>A (p.Gly426Ser) c.1120G>A (p.Gly374Ser) c.1027G>A (p.Gly343Ser) | |
| 5 | g.102391012C>A | CA360573933 | SLCO6A1 | c.1848G>T (p.Leu616Phe) c.1662G>T (p.Leu554Phe) c.1089G>T (p.Leu363Phe) n.218G>T c.1743G>T (p.Leu581Phe) c.1611G>T (p.Leu537Phe) c.1275G>T (p.Leu425Phe) c.1119G>T (p.Leu373Phe) c.1026G>T (p.Leu342Phe) | gnomAD v4 |
| 5 | g.102391012C= | CA1568270780 | SLCO6A1 | c.1848G= (p.Leu616=) c.1662G= (p.Leu554=) c.1089G= (p.Leu363=) n.218G= c.1743G= (p.Leu581=) c.1611G= (p.Leu537=) c.1275G= (p.Leu425=) c.1119G= (p.Leu373=) c.1026G= (p.Leu342=) | |
| 5 | g.102391012C>G | CA360573934 | SLCO6A1 | c.1848G>C (p.Leu616Phe) c.1662G>C (p.Leu554Phe) c.1089G>C (p.Leu363Phe) n.218G>C c.1743G>C (p.Leu581Phe) c.1611G>C (p.Leu537Phe) c.1275G>C (p.Leu425Phe) c.1119G>C (p.Leu373Phe) c.1026G>C (p.Leu342Phe) | |
| 5 | g.102391012C>T | CA3357925 | SLCO6A1 | c.1848G>A (p.Leu616=) c.1662G>A (p.Leu554=) c.1089G>A (p.Leu363=) n.218G>A c.1743G>A (p.Leu581=) c.1611G>A (p.Leu537=) c.1275G>A (p.Leu425=) c.1119G>A (p.Leu373=) c.1026G>A (p.Leu342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391013A>C | CA360573941 | SLCO6A1 | c.1847T>G (p.Leu616Trp) c.1661T>G (p.Leu554Trp) c.1088T>G (p.Leu363Trp) n.217T>G c.1742T>G (p.Leu581Trp) c.1610T>G (p.Leu537Trp) c.1274T>G (p.Leu425Trp) c.1118T>G (p.Leu373Trp) c.1025T>G (p.Leu342Trp) | |
| 5 | g.102391013A>G | CA360573938 | SLCO6A1 | c.1847T>C (p.Leu616Ser) c.1661T>C (p.Leu554Ser) c.1088T>C (p.Leu363Ser) n.217T>C c.1742T>C (p.Leu581Ser) c.1610T>C (p.Leu537Ser) c.1274T>C (p.Leu425Ser) c.1118T>C (p.Leu373Ser) c.1025T>C (p.Leu342Ser) | |
| 5 | g.102391013A>T | CA360573940 | SLCO6A1 | c.1847T>A (p.Leu616Ter) c.1661T>A (p.Leu554Ter) c.1088T>A (p.Leu363Ter) n.217T>A c.1742T>A (p.Leu581Ter) c.1610T>A (p.Leu537Ter) c.1274T>A (p.Leu425Ter) c.1118T>A (p.Leu373Ter) c.1025T>A (p.Leu342Ter) | |
| 5 | g.102391014A>C | CA360573944 | SLCO6A1 | c.1846T>G (p.Leu616Val) c.1660T>G (p.Leu554Val) c.1087T>G (p.Leu363Val) n.216T>G c.1741T>G (p.Leu581Val) c.1609T>G (p.Leu537Val) c.1273T>G (p.Leu425Val) c.1117T>G (p.Leu373Val) c.1024T>G (p.Leu342Val) | |
| 5 | g.102391014A>G | CA445859917 | SLCO6A1 | c.1846T>C (p.Leu616=) c.1660T>C (p.Leu554=) c.1087T>C (p.Leu363=) n.216T>C c.1741T>C (p.Leu581=) c.1609T>C (p.Leu537=) c.1273T>C (p.Leu425=) c.1117T>C (p.Leu373=) c.1024T>C (p.Leu342=) | |
| 5 | g.102391014A>T | CA360573945 | SLCO6A1 | c.1846T>A (p.Leu616Met) c.1660T>A (p.Leu554Met) c.1087T>A (p.Leu363Met) n.216T>A c.1741T>A (p.Leu581Met) c.1609T>A (p.Leu537Met) c.1273T>A (p.Leu425Met) c.1117T>A (p.Leu373Met) c.1024T>A (p.Leu342Met) | |
| 5 | g.102391015G>A | CA445859918 | SLCO6A1 | c.1845C>T (p.Ala615=) c.1659C>T (p.Ala553=) c.1086C>T (p.Ala362=) n.215C>T c.1740C>T (p.Ala580=) c.1608C>T (p.Ala536=) c.1272C>T (p.Ala424=) c.1116C>T (p.Ala372=) c.1023C>T (p.Ala341=) | gnomAD v4 |
| 5 | g.102391015G>C | CA445859919 | SLCO6A1 | c.1845C>G (p.Ala615=) c.1659C>G (p.Ala553=) c.1086C>G (p.Ala362=) n.215C>G c.1740C>G (p.Ala580=) c.1608C>G (p.Ala536=) c.1272C>G (p.Ala424=) c.1116C>G (p.Ala372=) c.1023C>G (p.Ala341=) | |
| 5 | g.102391015G>T | CA445859920 | SLCO6A1 | c.1845C>A (p.Ala615=) c.1659C>A (p.Ala553=) c.1086C>A (p.Ala362=) n.215C>A c.1740C>A (p.Ala580=) c.1608C>A (p.Ala536=) c.1272C>A (p.Ala424=) c.1116C>A (p.Ala372=) c.1023C>A (p.Ala341=) | |
| 5 | g.102391016G>A | CA360573946 | SLCO6A1 | c.1844C>T (p.Ala615Val) c.1658C>T (p.Ala553Val) c.1085C>T (p.Ala362Val) n.214C>T c.1739C>T (p.Ala580Val) c.1607C>T (p.Ala536Val) c.1271C>T (p.Ala424Val) c.1115C>T (p.Ala372Val) c.1022C>T (p.Ala341Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.102391016G>C | CA360573947 | SLCO6A1 | c.1844C>G (p.Ala615Gly) c.1658C>G (p.Ala553Gly) c.1085C>G (p.Ala362Gly) n.214C>G c.1739C>G (p.Ala580Gly) c.1607C>G (p.Ala536Gly) c.1271C>G (p.Ala424Gly) c.1115C>G (p.Ala372Gly) c.1022C>G (p.Ala341Gly) | |
| 5 | g.102391016G= | CA1568270781 | SLCO6A1 | c.1844C= (p.Ala615=) c.1658C= (p.Ala553=) c.1085C= (p.Ala362=) n.214C= c.1739C= (p.Ala580=) c.1607C= (p.Ala536=) c.1271C= (p.Ala424=) c.1115C= (p.Ala372=) c.1022C= (p.Ala341=) | |
| 5 | g.102391016G>T | CA360573950 | SLCO6A1 | c.1844C>A (p.Ala615Asp) c.1658C>A (p.Ala553Asp) c.1085C>A (p.Ala362Asp) n.214C>A c.1739C>A (p.Ala580Asp) c.1607C>A (p.Ala536Asp) c.1271C>A (p.Ala424Asp) c.1115C>A (p.Ala372Asp) c.1022C>A (p.Ala341Asp) | |
| 5 | g.102391017C>A | CA360573952 | SLCO6A1 | c.1843G>T (p.Ala615Ser) c.1657G>T (p.Ala553Ser) c.1084G>T (p.Ala362Ser) n.213G>T c.1738G>T (p.Ala580Ser) c.1606G>T (p.Ala536Ser) c.1270G>T (p.Ala424Ser) c.1114G>T (p.Ala372Ser) c.1021G>T (p.Ala341Ser) | |
| 5 | g.102391017C= | CA1568270782 | SLCO6A1 | c.1843G= (p.Ala615=) c.1657G= (p.Ala553=) c.1084G= (p.Ala362=) n.213G= c.1738G= (p.Ala580=) c.1606G= (p.Ala536=) c.1270G= (p.Ala424=) c.1114G= (p.Ala372=) c.1021G= (p.Ala341=) | |
| 5 | g.102391017C>G | CA360573954 | SLCO6A1 | c.1843G>C (p.Ala615Pro) c.1657G>C (p.Ala553Pro) c.1084G>C (p.Ala362Pro) n.213G>C c.1738G>C (p.Ala580Pro) c.1606G>C (p.Ala536Pro) c.1270G>C (p.Ala424Pro) c.1114G>C (p.Ala372Pro) c.1021G>C (p.Ala341Pro) | |
| 5 | g.102391017C>T | CA360573956 | SLCO6A1 | c.1843G>A (p.Ala615Thr) c.1657G>A (p.Ala553Thr) c.1084G>A (p.Ala362Thr) n.213G>A c.1738G>A (p.Ala580Thr) c.1606G>A (p.Ala536Thr) c.1270G>A (p.Ala424Thr) c.1114G>A (p.Ala372Thr) c.1021G>A (p.Ala341Thr) | dbSNP gnomAD v4 |
| 5 | g.102391018C>A | CA445859922 | SLCO6A1 | c.1842G>T (p.Leu614=) c.1656G>T (p.Leu552=) c.1083G>T (p.Leu361=) n.212G>T c.1737G>T (p.Leu579=) c.1605G>T (p.Leu535=) c.1269G>T (p.Leu423=) c.1113G>T (p.Leu371=) c.1020G>T (p.Leu340=) | |
| 5 | g.102391018C>G | CA445859923 | SLCO6A1 | c.1842G>C (p.Leu614=) c.1656G>C (p.Leu552=) c.1083G>C (p.Leu361=) n.212G>C c.1737G>C (p.Leu579=) c.1605G>C (p.Leu535=) c.1269G>C (p.Leu423=) c.1113G>C (p.Leu371=) c.1020G>C (p.Leu340=) | |
| 5 | g.102391018C>T | CA445859921 | SLCO6A1 | c.1842G>A (p.Leu614=) c.1656G>A (p.Leu552=) c.1083G>A (p.Leu361=) n.212G>A c.1737G>A (p.Leu579=) c.1605G>A (p.Leu535=) c.1269G>A (p.Leu423=) c.1113G>A (p.Leu371=) c.1020G>A (p.Leu340=) | |
| 5 | g.102391019A>C | CA360573958 | SLCO6A1 | c.1841T>G (p.Leu614Arg) c.1655T>G (p.Leu552Arg) c.1082T>G (p.Leu361Arg) n.211T>G c.1736T>G (p.Leu579Arg) c.1604T>G (p.Leu535Arg) c.1268T>G (p.Leu423Arg) c.1112T>G (p.Leu371Arg) c.1019T>G (p.Leu340Arg) | |
| 5 | g.102391019A>G | CA360573960 | SLCO6A1 | c.1841T>C (p.Leu614Pro) c.1655T>C (p.Leu552Pro) c.1082T>C (p.Leu361Pro) n.211T>C c.1736T>C (p.Leu579Pro) c.1604T>C (p.Leu535Pro) c.1268T>C (p.Leu423Pro) c.1112T>C (p.Leu371Pro) c.1019T>C (p.Leu340Pro) | |
| 5 | g.102391019A>T | CA360573962 | SLCO6A1 | c.1841T>A (p.Leu614Gln) c.1655T>A (p.Leu552Gln) c.1082T>A (p.Leu361Gln) n.211T>A c.1736T>A (p.Leu579Gln) c.1604T>A (p.Leu535Gln) c.1268T>A (p.Leu423Gln) c.1112T>A (p.Leu371Gln) c.1019T>A (p.Leu340Gln) | |
| 5 | g.102391020G>A | CA445859924 | SLCO6A1 | c.1840C>T (p.Leu614=) c.1654C>T (p.Leu552=) c.1081C>T (p.Leu361=) n.210C>T c.1735C>T (p.Leu579=) c.1603C>T (p.Leu535=) c.1267C>T (p.Leu423=) c.1111C>T (p.Leu371=) c.1018C>T (p.Leu340=) | gnomAD v4 |
| 5 | g.102391020G>C | CA360573965 | SLCO6A1 | c.1840C>G (p.Leu614Val) c.1654C>G (p.Leu552Val) c.1081C>G (p.Leu361Val) n.210C>G c.1735C>G (p.Leu579Val) c.1603C>G (p.Leu535Val) c.1267C>G (p.Leu423Val) c.1111C>G (p.Leu371Val) c.1018C>G (p.Leu340Val) | |
| 5 | g.102391020G>T | CA360573963 | SLCO6A1 | c.1840C>A (p.Leu614Met) c.1654C>A (p.Leu552Met) c.1081C>A (p.Leu361Met) n.210C>A c.1735C>A (p.Leu579Met) c.1603C>A (p.Leu535Met) c.1267C>A (p.Leu423Met) c.1111C>A (p.Leu371Met) c.1018C>A (p.Leu340Met) | |
| 5 | g.102391021A>C | CA445859925 | SLCO6A1 | c.1839T>G (p.Ser613=) c.1653T>G (p.Ser551=) c.1080T>G (p.Ser360=) n.209T>G c.1734T>G (p.Ser578=) c.1602T>G (p.Ser534=) c.1266T>G (p.Ser422=) c.1110T>G (p.Ser370=) c.1017T>G (p.Ser339=) | |
| 5 | g.102391021A>G | CA445859926 | SLCO6A1 | c.1839T>C (p.Ser613=) c.1653T>C (p.Ser551=) c.1080T>C (p.Ser360=) n.209T>C c.1734T>C (p.Ser578=) c.1602T>C (p.Ser534=) c.1266T>C (p.Ser422=) c.1110T>C (p.Ser370=) c.1017T>C (p.Ser339=) | |
| 5 | g.102391021A>T | CA445859927 | SLCO6A1 | c.1839T>A (p.Ser613=) c.1653T>A (p.Ser551=) c.1080T>A (p.Ser360=) n.209T>A c.1734T>A (p.Ser578=) c.1602T>A (p.Ser534=) c.1266T>A (p.Ser422=) c.1110T>A (p.Ser370=) c.1017T>A (p.Ser339=) | |
| 5 | g.102391022G>A | CA360573966 | SLCO6A1 | c.1838C>T (p.Ser613Phe) c.1652C>T (p.Ser551Phe) c.1079C>T (p.Ser360Phe) n.208C>T c.1733C>T (p.Ser578Phe) c.1601C>T (p.Ser534Phe) c.1265C>T (p.Ser422Phe) c.1109C>T (p.Ser370Phe) c.1016C>T (p.Ser339Phe) | COSMIC |
| 5 | g.102391022G>C | CA360573981 | SLCO6A1 | c.1838C>G (p.Ser613Cys) c.1652C>G (p.Ser551Cys) c.1079C>G (p.Ser360Cys) n.208C>G c.1733C>G (p.Ser578Cys) c.1601C>G (p.Ser534Cys) c.1265C>G (p.Ser422Cys) c.1109C>G (p.Ser370Cys) c.1016C>G (p.Ser339Cys) | |
| 5 | g.102391022G>T | CA360573980 | SLCO6A1 | c.1838C>A (p.Ser613Tyr) c.1652C>A (p.Ser551Tyr) c.1079C>A (p.Ser360Tyr) n.208C>A c.1733C>A (p.Ser578Tyr) c.1601C>A (p.Ser534Tyr) c.1265C>A (p.Ser422Tyr) c.1109C>A (p.Ser370Tyr) c.1016C>A (p.Ser339Tyr) | |
| 5 | g.102391023A>C | CA360573982 | SLCO6A1 | c.1837T>G (p.Ser613Ala) c.1651T>G (p.Ser551Ala) c.1078T>G (p.Ser360Ala) n.207T>G c.1732T>G (p.Ser578Ala) c.1600T>G (p.Ser534Ala) c.1264T>G (p.Ser422Ala) c.1108T>G (p.Ser370Ala) c.1015T>G (p.Ser339Ala) | |
| 5 | g.102391023A>G | CA360573984 | SLCO6A1 | c.1837T>C (p.Ser613Pro) c.1651T>C (p.Ser551Pro) c.1078T>C (p.Ser360Pro) n.207T>C c.1732T>C (p.Ser578Pro) c.1600T>C (p.Ser534Pro) c.1264T>C (p.Ser422Pro) c.1108T>C (p.Ser370Pro) c.1015T>C (p.Ser339Pro) | |
| 5 | g.102391023A>T | CA360573985 | SLCO6A1 | c.1837T>A (p.Ser613Thr) c.1651T>A (p.Ser551Thr) c.1078T>A (p.Ser360Thr) n.207T>A c.1732T>A (p.Ser578Thr) c.1600T>A (p.Ser534Thr) c.1264T>A (p.Ser422Thr) c.1108T>A (p.Ser370Thr) c.1015T>A (p.Ser339Thr) | |
| 5 | g.102391024A>C | CA445859928 | SLCO6A1 | c.1836T>G (p.Arg612=) c.1650T>G (p.Arg550=) c.1077T>G (p.Arg359=) n.206T>G c.1731T>G (p.Arg577=) c.1599T>G (p.Arg533=) c.1263T>G (p.Arg421=) c.1107T>G (p.Arg369=) c.1014T>G (p.Arg338=) | COSMIC |
| 5 | g.102391024A>G | CA445859929 | SLCO6A1 | c.1836T>C (p.Arg612=) c.1650T>C (p.Arg550=) c.1077T>C (p.Arg359=) n.206T>C c.1731T>C (p.Arg577=) c.1599T>C (p.Arg533=) c.1263T>C (p.Arg421=) c.1107T>C (p.Arg369=) c.1014T>C (p.Arg338=) | |
| 5 | g.102391024A>T | CA445859930 | SLCO6A1 | c.1836T>A (p.Arg612=) c.1650T>A (p.Arg550=) c.1077T>A (p.Arg359=) n.206T>A c.1731T>A (p.Arg577=) c.1599T>A (p.Arg533=) c.1263T>A (p.Arg421=) c.1107T>A (p.Arg369=) c.1014T>A (p.Arg338=) | |
| 5 | g.102391025C>A | CA360573988 | SLCO6A1 | c.1835G>T (p.Arg612Leu) c.1649G>T (p.Arg550Leu) c.1076G>T (p.Arg359Leu) n.205G>T c.1730G>T (p.Arg577Leu) c.1598G>T (p.Arg533Leu) c.1262G>T (p.Arg421Leu) c.1106G>T (p.Arg369Leu) c.1013G>T (p.Arg338Leu) | |
| 5 | g.102391025C= | CA1568270783 | SLCO6A1 | c.1835G= (p.Arg612=) c.1649G= (p.Arg550=) c.1076G= (p.Arg359=) n.205G= c.1730G= (p.Arg577=) c.1598G= (p.Arg533=) c.1262G= (p.Arg421=) c.1106G= (p.Arg369=) c.1013G= (p.Arg338=) | |
| 5 | g.102391025C>G | CA360573990 | SLCO6A1 | c.1835G>C (p.Arg612Pro) c.1649G>C (p.Arg550Pro) c.1076G>C (p.Arg359Pro) n.205G>C c.1730G>C (p.Arg577Pro) c.1598G>C (p.Arg533Pro) c.1262G>C (p.Arg421Pro) c.1106G>C (p.Arg369Pro) c.1013G>C (p.Arg338Pro) | |
| 5 | g.102391025C>T | CA3357926 | SLCO6A1 | c.1835G>A (p.Arg612His) c.1649G>A (p.Arg550His) c.1076G>A (p.Arg359His) n.205G>A c.1730G>A (p.Arg577His) c.1598G>A (p.Arg533His) c.1262G>A (p.Arg421His) c.1106G>A (p.Arg369His) c.1013G>A (p.Arg338His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.102391026G>A | CA360573992 | SLCO6A1 | c.1834C>T (p.Arg612Cys) c.1648C>T (p.Arg550Cys) c.1075C>T (p.Arg359Cys) n.204C>T c.1729C>T (p.Arg577Cys) c.1597C>T (p.Arg533Cys) c.1261C>T (p.Arg421Cys) c.1105C>T (p.Arg369Cys) c.1012C>T (p.Arg338Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.102391026G>C | CA360573994 | SLCO6A1 | c.1834C>G (p.Arg612Gly) c.1648C>G (p.Arg550Gly) c.1075C>G (p.Arg359Gly) n.204C>G c.1729C>G (p.Arg577Gly) c.1597C>G (p.Arg533Gly) c.1261C>G (p.Arg421Gly) c.1105C>G (p.Arg369Gly) c.1012C>G (p.Arg338Gly) | |
| 5 | g.102391026G= | CA1568270784 | SLCO6A1 | c.1834C= (p.Arg612=) c.1648C= (p.Arg550=) c.1075C= (p.Arg359=) n.204C= c.1729C= (p.Arg577=) c.1597C= (p.Arg533=) c.1261C= (p.Arg421=) c.1105C= (p.Arg369=) c.1012C= (p.Arg338=) | |
| 5 | g.102391026G>T | CA360573996 | SLCO6A1 | c.1834C>A (p.Arg612Ser) c.1648C>A (p.Arg550Ser) c.1075C>A (p.Arg359Ser) n.204C>A c.1729C>A (p.Arg577Ser) c.1597C>A (p.Arg533Ser) c.1261C>A (p.Arg421Ser) c.1105C>A (p.Arg369Ser) c.1012C>A (p.Arg338Ser) | |
| 5 | g.102391027C>A | CA445859931 | SLCO6A1 | c.1833G>T (p.Leu611=) c.1647G>T (p.Leu549=) c.1074G>T (p.Leu358=) n.203G>T c.1728G>T (p.Leu576=) c.1596G>T (p.Leu532=) c.1260G>T (p.Leu420=) c.1104G>T (p.Leu368=) c.1011G>T (p.Leu337=) | gnomAD v4 |
| 5 | g.102391027C>G | CA445859932 | SLCO6A1 | c.1833G>C (p.Leu611=) c.1647G>C (p.Leu549=) c.1074G>C (p.Leu358=) n.203G>C c.1728G>C (p.Leu576=) c.1596G>C (p.Leu532=) c.1260G>C (p.Leu420=) c.1104G>C (p.Leu368=) c.1011G>C (p.Leu337=) | |
| 5 | g.102391027C>T | CA445859933 | SLCO6A1 | c.1833G>A (p.Leu611=) c.1647G>A (p.Leu549=) c.1074G>A (p.Leu358=) n.203G>A c.1728G>A (p.Leu576=) c.1596G>A (p.Leu532=) c.1260G>A (p.Leu420=) c.1104G>A (p.Leu368=) c.1011G>A (p.Leu337=) | |
| 5 | g.102391028A>C | CA360573998 | SLCO6A1 | c.1832T>G (p.Leu611Arg) c.1646T>G (p.Leu549Arg) c.1073T>G (p.Leu358Arg) n.202T>G c.1727T>G (p.Leu576Arg) c.1595T>G (p.Leu532Arg) c.1259T>G (p.Leu420Arg) c.1103T>G (p.Leu368Arg) c.1010T>G (p.Leu337Arg) | |
| 5 | g.102391028A>G | CA360574000 | SLCO6A1 | c.1832T>C (p.Leu611Pro) c.1646T>C (p.Leu549Pro) c.1073T>C (p.Leu358Pro) n.202T>C c.1727T>C (p.Leu576Pro) c.1595T>C (p.Leu532Pro) c.1259T>C (p.Leu420Pro) c.1103T>C (p.Leu368Pro) c.1010T>C (p.Leu337Pro) | |
| 5 | g.102391028A>T | CA360574002 | SLCO6A1 | c.1832T>A (p.Leu611Gln) c.1646T>A (p.Leu549Gln) c.1073T>A (p.Leu358Gln) n.202T>A c.1727T>A (p.Leu576Gln) c.1595T>A (p.Leu532Gln) c.1259T>A (p.Leu420Gln) c.1103T>A (p.Leu368Gln) c.1010T>A (p.Leu337Gln) | |
| 5 | g.102391029G>A | CA445859934 | SLCO6A1 | c.1831C>T (p.Leu611=) c.1645C>T (p.Leu549=) c.1072C>T (p.Leu358=) n.201C>T c.1726C>T (p.Leu576=) c.1594C>T (p.Leu532=) c.1258C>T (p.Leu420=) c.1102C>T (p.Leu368=) c.1009C>T (p.Leu337=) | dbSNP |
| 5 | g.102391029G>C | CA360574007 | SLCO6A1 | c.1831C>G (p.Leu611Val) c.1645C>G (p.Leu549Val) c.1072C>G (p.Leu358Val) n.201C>G c.1726C>G (p.Leu576Val) c.1594C>G (p.Leu532Val) c.1258C>G (p.Leu420Val) c.1102C>G (p.Leu368Val) c.1009C>G (p.Leu337Val) | COSMIC |
| 5 | g.102391029G>T | CA360574009 | SLCO6A1 | c.1831C>A (p.Leu611Met) c.1645C>A (p.Leu549Met) c.1072C>A (p.Leu358Met) n.201C>A c.1726C>A (p.Leu576Met) c.1594C>A (p.Leu532Met) c.1258C>A (p.Leu420Met) c.1102C>A (p.Leu368Met) c.1009C>A (p.Leu337Met) | |
| 5 | g.102391030T>A | CA360574011 | SLCO6A1 | c.1830A>T (p.Lys610Asn) c.1644A>T (p.Lys548Asn) c.1071A>T (p.Lys357Asn) n.200A>T c.1725A>T (p.Lys575Asn) c.1593A>T (p.Lys531Asn) c.1257A>T (p.Lys419Asn) c.1101A>T (p.Lys367Asn) c.1008A>T (p.Lys336Asn) | |
| 5 | g.102391030T>C | CA445859935 | SLCO6A1 | c.1830A>G (p.Lys610=) c.1644A>G (p.Lys548=) c.1071A>G (p.Lys357=) n.200A>G c.1725A>G (p.Lys575=) c.1593A>G (p.Lys531=) c.1257A>G (p.Lys419=) c.1101A>G (p.Lys367=) c.1008A>G (p.Lys336=) | |
| 5 | g.102391030T>G | CA360574013 | SLCO6A1 | c.1830A>C (p.Lys610Asn) c.1644A>C (p.Lys548Asn) c.1071A>C (p.Lys357Asn) n.200A>C c.1725A>C (p.Lys575Asn) c.1593A>C (p.Lys531Asn) c.1257A>C (p.Lys419Asn) c.1101A>C (p.Lys367Asn) c.1008A>C (p.Lys336Asn) | |
| 5 | g.102391031T>A | CA360574016 | SLCO6A1 | c.1829A>T (p.Lys610Ile) c.1643A>T (p.Lys548Ile) c.1070A>T (p.Lys357Ile) n.199A>T c.1724A>T (p.Lys575Ile) c.1592A>T (p.Lys531Ile) c.1256A>T (p.Lys419Ile) c.1100A>T (p.Lys367Ile) c.1007A>T (p.Lys336Ile) | |
| 5 | g.102391031T>C | CA3357927 | SLCO6A1 | c.1829A>G (p.Lys610Arg) c.1643A>G (p.Lys548Arg) c.1070A>G (p.Lys357Arg) n.199A>G c.1724A>G (p.Lys575Arg) c.1592A>G (p.Lys531Arg) c.1256A>G (p.Lys419Arg) c.1100A>G (p.Lys367Arg) c.1007A>G (p.Lys336Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391031T>G | CA360574019 | SLCO6A1 | c.1829A>C (p.Lys610Thr) c.1643A>C (p.Lys548Thr) c.1070A>C (p.Lys357Thr) n.199A>C c.1724A>C (p.Lys575Thr) c.1592A>C (p.Lys531Thr) c.1256A>C (p.Lys419Thr) c.1100A>C (p.Lys367Thr) c.1007A>C (p.Lys336Thr) | |
| 5 | g.102391031T= | CA1568270785 | SLCO6A1 | c.1829A= (p.Lys610=) c.1643A= (p.Lys548=) c.1070A= (p.Lys357=) n.199A= c.1724A= (p.Lys575=) c.1592A= (p.Lys531=) c.1256A= (p.Lys419=) c.1100A= (p.Lys367=) c.1007A= (p.Lys336=) | |
| 5 | g.102391032T>A | CA360574021 | SLCO6A1 | c.1828A>T (p.Lys610Ter) c.1642A>T (p.Lys548Ter) c.1069A>T (p.Lys357Ter) n.198A>T c.1723A>T (p.Lys575Ter) c.1591A>T (p.Lys531Ter) c.1255A>T (p.Lys419Ter) c.1099A>T (p.Lys367Ter) c.1006A>T (p.Lys336Ter) | |
| 5 | g.102391032T>C | CA360574023 | SLCO6A1 | c.1828A>G (p.Lys610Glu) c.1642A>G (p.Lys548Glu) c.1069A>G (p.Lys357Glu) n.198A>G c.1723A>G (p.Lys575Glu) c.1591A>G (p.Lys531Glu) c.1255A>G (p.Lys419Glu) c.1099A>G (p.Lys367Glu) c.1006A>G (p.Lys336Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391032T>G | CA360574025 | SLCO6A1 | c.1828A>C (p.Lys610Gln) c.1642A>C (p.Lys548Gln) c.1069A>C (p.Lys357Gln) n.198A>C c.1723A>C (p.Lys575Gln) c.1591A>C (p.Lys531Gln) c.1255A>C (p.Lys419Gln) c.1099A>C (p.Lys367Gln) c.1006A>C (p.Lys336Gln) | |
| 5 | g.102391032T= | CA1568270786 | SLCO6A1 | c.1828A= (p.Lys610=) c.1642A= (p.Lys548=) c.1069A= (p.Lys357=) n.198A= c.1723A= (p.Lys575=) c.1591A= (p.Lys531=) c.1255A= (p.Lys419=) c.1099A= (p.Lys367=) c.1006A= (p.Lys336=) | |
| 5 | g.102391033G>A | CA445859936 | SLCO6A1 | c.1827C>T (p.Asp609=) c.1641C>T (p.Asp547=) c.1068C>T (p.Asp356=) n.197C>T c.1722C>T (p.Asp574=) c.1590C>T (p.Asp530=) c.1254C>T (p.Asp418=) c.1098C>T (p.Asp366=) c.1005C>T (p.Asp335=) | |
| 5 | g.102391033G>C | CA360574027 | SLCO6A1 | c.1827C>G (p.Asp609Glu) c.1641C>G (p.Asp547Glu) c.1068C>G (p.Asp356Glu) n.197C>G c.1722C>G (p.Asp574Glu) c.1590C>G (p.Asp530Glu) c.1254C>G (p.Asp418Glu) c.1098C>G (p.Asp366Glu) c.1005C>G (p.Asp335Glu) | |
| 5 | g.102391033G>T | CA360574029 | SLCO6A1 | c.1827C>A (p.Asp609Glu) c.1641C>A (p.Asp547Glu) c.1068C>A (p.Asp356Glu) n.197C>A c.1722C>A (p.Asp574Glu) c.1590C>A (p.Asp530Glu) c.1254C>A (p.Asp418Glu) c.1098C>A (p.Asp366Glu) c.1005C>A (p.Asp335Glu) | |
| 5 | g.102391034T>A | CA360574031 | SLCO6A1 | c.1826A>T (p.Asp609Val) c.1640A>T (p.Asp547Val) c.1067A>T (p.Asp356Val) n.196A>T c.1721A>T (p.Asp574Val) c.1589A>T (p.Asp530Val) c.1253A>T (p.Asp418Val) c.1097A>T (p.Asp366Val) c.1004A>T (p.Asp335Val) | |
| 5 | g.102391034T>C | CA360574033 | SLCO6A1 | c.1826A>G (p.Asp609Gly) c.1640A>G (p.Asp547Gly) c.1067A>G (p.Asp356Gly) n.196A>G c.1721A>G (p.Asp574Gly) c.1589A>G (p.Asp530Gly) c.1253A>G (p.Asp418Gly) c.1097A>G (p.Asp366Gly) c.1004A>G (p.Asp335Gly) | |
| 5 | g.102391034T>G | CA360574035 | SLCO6A1 | c.1826A>C (p.Asp609Ala) c.1640A>C (p.Asp547Ala) c.1067A>C (p.Asp356Ala) n.196A>C c.1721A>C (p.Asp574Ala) c.1589A>C (p.Asp530Ala) c.1253A>C (p.Asp418Ala) c.1097A>C (p.Asp366Ala) c.1004A>C (p.Asp335Ala) | |
| 5 | g.102391035C>A | CA360574038 | SLCO6A1 | c.1825G>T (p.Asp609Tyr) c.1639G>T (p.Asp547Tyr) c.1066G>T (p.Asp356Tyr) n.195G>T c.1720G>T (p.Asp574Tyr) c.1588G>T (p.Asp530Tyr) c.1252G>T (p.Asp418Tyr) c.1096G>T (p.Asp366Tyr) c.1003G>T (p.Asp335Tyr) | |
| 5 | g.102391035C>G | CA360574040 | SLCO6A1 | c.1825G>C (p.Asp609His) c.1639G>C (p.Asp547His) c.1066G>C (p.Asp356His) n.195G>C c.1720G>C (p.Asp574His) c.1588G>C (p.Asp530His) c.1252G>C (p.Asp418His) c.1096G>C (p.Asp366His) c.1003G>C (p.Asp335His) | gnomAD v4 COSMIC |
| 5 | g.102391035C>T | CA360574039 | SLCO6A1 | c.1825G>A (p.Asp609Asn) c.1639G>A (p.Asp547Asn) c.1066G>A (p.Asp356Asn) n.195G>A c.1720G>A (p.Asp574Asn) c.1588G>A (p.Asp530Asn) c.1252G>A (p.Asp418Asn) c.1096G>A (p.Asp366Asn) c.1003G>A (p.Asp335Asn) | |
| 5 | g.102391036A= | CA1568270787 | SLCO6A1 | c.1824T= (p.Pro608=) c.1638T= (p.Pro546=) c.1065T= (p.Pro355=) n.194T= c.1719T= (p.Pro573=) c.1587T= (p.Pro529=) c.1251T= (p.Pro417=) c.1095T= (p.Pro365=) c.1002T= (p.Pro334=) | |
| 5 | g.102391036A>C | CA445859937 | SLCO6A1 | c.1824T>G (p.Pro608=) c.1638T>G (p.Pro546=) c.1065T>G (p.Pro355=) n.194T>G c.1719T>G (p.Pro573=) c.1587T>G (p.Pro529=) c.1251T>G (p.Pro417=) c.1095T>G (p.Pro365=) c.1002T>G (p.Pro334=) | |
| 5 | g.102391036A>G | CA3357928 | SLCO6A1 | c.1824T>C (p.Pro608=) c.1638T>C (p.Pro546=) c.1065T>C (p.Pro355=) n.194T>C c.1719T>C (p.Pro573=) c.1587T>C (p.Pro529=) c.1251T>C (p.Pro417=) c.1095T>C (p.Pro365=) c.1002T>C (p.Pro334=) | dbSNP ExAC gnomAD v2 |
| 5 | g.102391036A>T | CA445859938 | SLCO6A1 | c.1824T>A (p.Pro608=) c.1638T>A (p.Pro546=) c.1065T>A (p.Pro355=) n.194T>A c.1719T>A (p.Pro573=) c.1587T>A (p.Pro529=) c.1251T>A (p.Pro417=) c.1095T>A (p.Pro365=) c.1002T>A (p.Pro334=) | gnomAD v4 |
| 5 | g.102391037G>A | CA123846914 | SLCO6A1 | c.1823C>T (p.Pro608Leu) c.1637C>T (p.Pro546Leu) c.1064C>T (p.Pro355Leu) n.193C>T c.1718C>T (p.Pro573Leu) c.1586C>T (p.Pro529Leu) c.1250C>T (p.Pro417Leu) c.1094C>T (p.Pro365Leu) c.1001C>T (p.Pro334Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391037G>C | CA360574042 | SLCO6A1 | c.1823C>G (p.Pro608Arg) c.1637C>G (p.Pro546Arg) c.1064C>G (p.Pro355Arg) n.193C>G c.1718C>G (p.Pro573Arg) c.1586C>G (p.Pro529Arg) c.1250C>G (p.Pro417Arg) c.1094C>G (p.Pro365Arg) c.1001C>G (p.Pro334Arg) | |
| 5 | g.102391037G= | CA1568270788 | SLCO6A1 | c.1823C= (p.Pro608=) c.1637C= (p.Pro546=) c.1064C= (p.Pro355=) n.193C= c.1718C= (p.Pro573=) c.1586C= (p.Pro529=) c.1250C= (p.Pro417=) c.1094C= (p.Pro365=) c.1001C= (p.Pro334=) | |
| 5 | g.102391037G>T | CA360574043 | SLCO6A1 | c.1823C>A (p.Pro608His) c.1637C>A (p.Pro546His) c.1064C>A (p.Pro355His) n.193C>A c.1718C>A (p.Pro573His) c.1586C>A (p.Pro529His) c.1250C>A (p.Pro417His) c.1094C>A (p.Pro365His) c.1001C>A (p.Pro334His) | |
| 5 | g.102391038G>A | CA3357929 | SLCO6A1 | c.1822C>T (p.Pro608Ser) c.1636C>T (p.Pro546Ser) c.1063C>T (p.Pro355Ser) n.192C>T c.1717C>T (p.Pro573Ser) c.1585C>T (p.Pro529Ser) c.1249C>T (p.Pro417Ser) c.1093C>T (p.Pro365Ser) c.1000C>T (p.Pro334Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.102391038G>C | CA360574045 | SLCO6A1 | c.1822C>G (p.Pro608Ala) c.1636C>G (p.Pro546Ala) c.1063C>G (p.Pro355Ala) n.192C>G c.1717C>G (p.Pro573Ala) c.1585C>G (p.Pro529Ala) c.1249C>G (p.Pro417Ala) c.1093C>G (p.Pro365Ala) c.1000C>G (p.Pro334Ala) | |
| 5 | g.102391038G= | CA1568270789 | SLCO6A1 | c.1822C= (p.Pro608=) c.1636C= (p.Pro546=) c.1063C= (p.Pro355=) n.192C= c.1717C= (p.Pro573=) c.1585C= (p.Pro529=) c.1249C= (p.Pro417=) c.1093C= (p.Pro365=) c.1000C= (p.Pro334=) | |
| 5 | g.102391038G>T | CA123846923 | SLCO6A1 | c.1822C>A (p.Pro608Thr) c.1636C>A (p.Pro546Thr) c.1063C>A (p.Pro355Thr) n.192C>A c.1717C>A (p.Pro573Thr) c.1585C>A (p.Pro529Thr) c.1249C>A (p.Pro417Thr) c.1093C>A (p.Pro365Thr) c.1000C>A (p.Pro334Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391039T>A | CA445859939 | SLCO6A1 | c.1821A>T (p.Val607=) c.1635A>T (p.Val545=) c.1062A>T (p.Val354=) n.191A>T c.1716A>T (p.Val572=) c.1584A>T (p.Val528=) c.1248A>T (p.Val416=) c.1092A>T (p.Val364=) c.999A>T (p.Val333=) | |
| 5 | g.102391039T>C | CA445859940 | SLCO6A1 | c.1821A>G (p.Val607=) c.1635A>G (p.Val545=) c.1062A>G (p.Val354=) n.191A>G c.1716A>G (p.Val572=) c.1584A>G (p.Val528=) c.1248A>G (p.Val416=) c.1092A>G (p.Val364=) c.999A>G (p.Val333=) | |
| 5 | g.102391039T>G | CA445859941 | SLCO6A1 | c.1821A>C (p.Val607=) c.1635A>C (p.Val545=) c.1062A>C (p.Val354=) n.191A>C c.1716A>C (p.Val572=) c.1584A>C (p.Val528=) c.1248A>C (p.Val416=) c.1092A>C (p.Val364=) c.999A>C (p.Val333=) | |
| 5 | g.102391040A= | CA1568270790 | SLCO6A1 | c.1820T= (p.Val607=) c.1634T= (p.Val545=) c.1061T= (p.Val354=) n.190T= c.1715T= (p.Val572=) c.1583T= (p.Val528=) c.1247T= (p.Val416=) c.1091T= (p.Val364=) c.998T= (p.Val333=) | |
| 5 | g.102391040A>C | CA360574048 | SLCO6A1 | c.1820T>G (p.Val607Gly) c.1634T>G (p.Val545Gly) c.1061T>G (p.Val354Gly) n.190T>G c.1715T>G (p.Val572Gly) c.1583T>G (p.Val528Gly) c.1247T>G (p.Val416Gly) c.1091T>G (p.Val364Gly) c.998T>G (p.Val333Gly) | |
| 5 | g.102391040A>G | CA3357930 | SLCO6A1 | c.1820T>C (p.Val607Ala) c.1634T>C (p.Val545Ala) c.1061T>C (p.Val354Ala) n.190T>C c.1715T>C (p.Val572Ala) c.1583T>C (p.Val528Ala) c.1247T>C (p.Val416Ala) c.1091T>C (p.Val364Ala) c.998T>C (p.Val333Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391040A>T | CA360574051 | SLCO6A1 | c.1820T>A (p.Val607Glu) c.1634T>A (p.Val545Glu) c.1061T>A (p.Val354Glu) n.190T>A c.1715T>A (p.Val572Glu) c.1583T>A (p.Val528Glu) c.1247T>A (p.Val416Glu) c.1091T>A (p.Val364Glu) c.998T>A (p.Val333Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391041C>A | CA360574054 | SLCO6A1 | c.1819G>T (p.Val607Leu) c.1633G>T (p.Val545Leu) c.1060G>T (p.Val354Leu) n.189G>T c.1714G>T (p.Val572Leu) c.1582G>T (p.Val528Leu) c.1246G>T (p.Val416Leu) c.1090G>T (p.Val364Leu) c.997G>T (p.Val333Leu) | COSMIC |
| 5 | g.102391041C>G | CA360574056 | SLCO6A1 | c.1819G>C (p.Val607Leu) c.1633G>C (p.Val545Leu) c.1060G>C (p.Val354Leu) n.189G>C c.1714G>C (p.Val572Leu) c.1582G>C (p.Val528Leu) c.1246G>C (p.Val416Leu) c.1090G>C (p.Val364Leu) c.997G>C (p.Val333Leu) | gnomAD v4 |
| 5 | g.102391041C>T | CA360574059 | SLCO6A1 | c.1819G>A (p.Val607Ile) c.1633G>A (p.Val545Ile) c.1060G>A (p.Val354Ile) n.189G>A c.1714G>A (p.Val572Ile) c.1582G>A (p.Val528Ile) c.1246G>A (p.Val416Ile) c.1090G>A (p.Val364Ile) c.997G>A (p.Val333Ile) | |
| 5 | g.102391042A>C | CA445859942 | SLCO6A1 | c.1818T>G (p.Val606=) c.1632T>G (p.Val544=) c.1059T>G (p.Val353=) n.188T>G c.1713T>G (p.Val571=) c.1581T>G (p.Val527=) c.1245T>G (p.Val415=) c.1089T>G (p.Val363=) c.996T>G (p.Val332=) | |
| 5 | g.102391042A>G | CA445859943 | SLCO6A1 | c.1818T>C (p.Val606=) c.1632T>C (p.Val544=) c.1059T>C (p.Val353=) n.188T>C c.1713T>C (p.Val571=) c.1581T>C (p.Val527=) c.1245T>C (p.Val415=) c.1089T>C (p.Val363=) c.996T>C (p.Val332=) | |
| 5 | g.102391042A>T | CA445859944 | SLCO6A1 | c.1818T>A (p.Val606=) c.1632T>A (p.Val544=) c.1059T>A (p.Val353=) n.188T>A c.1713T>A (p.Val571=) c.1581T>A (p.Val527=) c.1245T>A (p.Val415=) c.1089T>A (p.Val363=) c.996T>A (p.Val332=) | |
| 5 | g.102391043del | CA2674746469 | SLCO6A1 | c.1818del (p.Val607TyrfsTer12) c.1632del (p.Val545TyrfsTer12) c.1059del (p.Val354TyrfsTer12) n.188del c.1713del (p.Val572TyrfsTer12) c.1581del (p.Val528TyrfsTer12) c.1245del (p.Val416TyrfsTer12) c.1089del (p.Val364TyrfsTer12) c.996del (p.Val333TyrfsTer12) | gnomAD v4 |
| 5 | g.102391043A>C | CA360574069 | SLCO6A1 | c.1817T>G (p.Val606Gly) c.1631T>G (p.Val544Gly) c.1058T>G (p.Val353Gly) n.187T>G c.1712T>G (p.Val571Gly) c.1580T>G (p.Val527Gly) c.1244T>G (p.Val415Gly) c.1088T>G (p.Val363Gly) c.995T>G (p.Val332Gly) | |
| 5 | g.102391043A>G | CA360574063 | SLCO6A1 | c.1817T>C (p.Val606Ala) c.1631T>C (p.Val544Ala) c.1058T>C (p.Val353Ala) n.187T>C c.1712T>C (p.Val571Ala) c.1580T>C (p.Val527Ala) c.1244T>C (p.Val415Ala) c.1088T>C (p.Val363Ala) c.995T>C (p.Val332Ala) | |
| 5 | g.102391043A>T | CA360574066 | SLCO6A1 | c.1817T>A (p.Val606Asp) c.1631T>A (p.Val544Asp) c.1058T>A (p.Val353Asp) n.187T>A c.1712T>A (p.Val571Asp) c.1580T>A (p.Val527Asp) c.1244T>A (p.Val415Asp) c.1088T>A (p.Val363Asp) c.995T>A (p.Val332Asp) | |
| 5 | g.102391044C>A | CA360574072 | SLCO6A1 | c.1816G>T (p.Val606Phe) c.1630G>T (p.Val544Phe) c.1057G>T (p.Val353Phe) n.186G>T c.1711G>T (p.Val571Phe) c.1579G>T (p.Val527Phe) c.1243G>T (p.Val415Phe) c.1087G>T (p.Val363Phe) c.994G>T (p.Val332Phe) | gnomAD v4 |
| 5 | g.102391044C>G | CA360574073 | SLCO6A1 | c.1816G>C (p.Val606Leu) c.1630G>C (p.Val544Leu) c.1057G>C (p.Val353Leu) n.186G>C c.1711G>C (p.Val571Leu) c.1579G>C (p.Val527Leu) c.1243G>C (p.Val415Leu) c.1087G>C (p.Val363Leu) c.994G>C (p.Val332Leu) | |
| 5 | g.102391044C>T | CA360574074 | SLCO6A1 | c.1816G>A (p.Val606Ile) c.1630G>A (p.Val544Ile) c.1057G>A (p.Val353Ile) n.186G>A c.1711G>A (p.Val571Ile) c.1579G>A (p.Val527Ile) c.1243G>A (p.Val415Ile) c.1087G>A (p.Val363Ile) c.994G>A (p.Val332Ile) | |
| 5 | g.102391045C>A | CA445859945 | SLCO6A1 | c.1815G>T (p.Arg605=) c.1629G>T (p.Arg543=) c.1056G>T (p.Arg352=) n.185G>T c.1710G>T (p.Arg570=) c.1578G>T (p.Arg526=) c.1242G>T (p.Arg414=) c.1086G>T (p.Arg362=) c.993G>T (p.Arg331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.102391045C= | CA1568270791 | SLCO6A1 | c.1815G= (p.Arg605=) c.1629G= (p.Arg543=) c.1056G= (p.Arg352=) n.185G= c.1710G= (p.Arg570=) c.1578G= (p.Arg526=) c.1242G= (p.Arg414=) c.1086G= (p.Arg362=) c.993G= (p.Arg331=) | |
| 5 | g.102391045C>G | CA445859946 | SLCO6A1 | c.1815G>C (p.Arg605=) c.1629G>C (p.Arg543=) c.1056G>C (p.Arg352=) n.185G>C c.1710G>C (p.Arg570=) c.1578G>C (p.Arg526=) c.1242G>C (p.Arg414=) c.1086G>C (p.Arg362=) c.993G>C (p.Arg331=) | |
| 5 | g.102391045C>T | CA445859947 | SLCO6A1 | c.1815G>A (p.Arg605=) c.1629G>A (p.Arg543=) c.1056G>A (p.Arg352=) n.185G>A c.1710G>A (p.Arg570=) c.1578G>A (p.Arg526=) c.1242G>A (p.Arg414=) c.1086G>A (p.Arg362=) c.993G>A (p.Arg331=) | gnomAD v4 |
| 5 | g.102391046C>A | CA360574075 | SLCO6A1 | c.1815-1G>T (n.1815-1G>T) c.1629-1G>T (n.1629-1G>T) c.1056-1G>T (n.1056-1G>T) n.184G>T c.1710-1G>T (n.1710-1G>T) c.1578-1G>T (n.1578-1G>T) c.1242-1G>T (n.1242-1G>T) c.1086-1G>T (n.1086-1G>T) c.993-1G>T (n.993-1G>T) | |
| 5 | g.102391046C>G | CA360574077 | SLCO6A1 | c.1815-1G>C (n.1815-1G>C) c.1629-1G>C (n.1629-1G>C) c.1056-1G>C (n.1056-1G>C) n.184G>C c.1710-1G>C (n.1710-1G>C) c.1578-1G>C (n.1578-1G>C) c.1242-1G>C (n.1242-1G>C) c.1086-1G>C (n.1086-1G>C) c.993-1G>C (n.993-1G>C) | |
| 5 | g.102391046C>T | CA360574080 | SLCO6A1 | c.1815-1G>A (n.1815-1G>A) c.1629-1G>A (n.1629-1G>A) c.1056-1G>A (n.1056-1G>A) n.184G>A c.1710-1G>A (n.1710-1G>A) c.1578-1G>A (n.1578-1G>A) c.1242-1G>A (n.1242-1G>A) c.1086-1G>A (n.1086-1G>A) c.993-1G>A (n.993-1G>A) |