Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21176896del | CA645571485 | SLCO1B1 | c.480del (p.Gly161ValfsTer3) | gnomAD v4 COSMIC |
12 | g.21176894A>C | CA384104985 | SLCO1B1 | c.478A>C (p.Lys160Gln) c.544A>C | |
12 | g.21176894A>G | CA384104986 | SLCO1B1 | c.478A>G (p.Lys160Glu) c.544A>G | gnomAD v4 |
12 | g.21176894A>T | CA384104987 | SLCO1B1 | c.478A>T (p.Lys160Ter) c.544A>T | |
12 | g.21176895A>C | CA384104988 | SLCO1B1 | c.479A>C (p.Lys160Thr) c.545A>C | |
12 | g.21176895A>G | CA384104989 | SLCO1B1 | c.479A>G (p.Lys160Arg) c.545A>G | gnomAD v4 |
12 | g.21176895A>T | CA384104990 | SLCO1B1 | c.479A>T (p.Lys160Ile) c.545A>T | COSMIC |
12 | g.21176896A>C | CA384104992 | SLCO1B1 | c.480A>C (p.Lys160Asn) | |
12 | g.21176896A>G | CA478866959 | SLCO1B1 | c.480A>G (p.Lys160=) | gnomAD v4 |
12 | g.21176896A>T | CA384104991 | SLCO1B1 | c.480A>T (p.Lys160Asn) | gnomAD v4 |
12 | g.21176897G>A | CA6476693 | SLCO1B1 | c.481G>A (p.Gly161Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176897G>C | CA384104993 | SLCO1B1 | c.481G>C (p.Gly161Arg) | |
12 | g.21176897G= | CA2020990635 | SLCO1B1 | c.481G= (p.Gly161=) | |
12 | g.21176897G>T | CA384104994 | SLCO1B1 | c.481G>T (p.Gly161Cys) | |
12 | g.21176898del | CA2617896194 | SLCO1B1 | c.481+1del | gnomAD v4 |
12 | g.21176898G>A | CA384104995 | SLCO1B1 | c.481+1G>A (n.481+1G>A) | gnomAD v4 |
12 | g.21176898G>C | CA384104996 | SLCO1B1 | c.481+1G>C (n.481+1G>C) | |
12 | g.21176898G= | CA2020990636 | SLCO1B1 | c.481+1G= (n.481+1G=) | |
12 | g.21176898G>T | CA6476694 | SLCO1B1 | c.481+1G>T (n.481+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176899T>A | CA384104997 | SLCO1B1 | c.481+2T>A (n.481+2T>A) | |
12 | g.21176899T>C | CA384104999 | SLCO1B1 | c.481+2T>C (n.481+2T>C) | |
12 | g.21176899T>G | CA384104998 | SLCO1B1 | c.481+2T>G (n.481+2T>G) | |
12 | g.21176900A= | CA2020990637 | SLCO1B1 | c.481+3A= (n.481+3A=) | |
12 | g.21176900A>G | CA686354550 | SLCO1B1 | c.481+3A>G (n.481+3A>G) | dbSNP |
12 | g.21176901del | CA2617896200 | SLCO1B1 | c.481+4del (n.481+4del) | gnomAD v4 |
12 | g.21176901A>G | CA2617896201 | SLCO1B1 | c.481+4A>G (n.481+4A>G) | gnomAD v4 |
12 | g.21176903A>T | CA2617896202 | SLCO1B1 | c.481+6A>T (n.481+6A>T) | gnomAD v4 |
12 | g.21176904A= | CA2020990638 | SLCO1B1 | c.481+7A= (n.481+7A=) | |
12 | g.21176904A>G | CA6476695 | SLCO1B1 | c.481+7A>G (n.481+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176905T>C | CA2617896204 | SLCO1B1 | c.481+8T>C (n.481+8T>C) | gnomAD v4 |
12 | g.21176906T>A | CA2617896206 | SLCO1B1 | c.481+9T>A (n.481+9T>A) | gnomAD v4 |
12 | g.21176906T>C | CA2617896205 | SLCO1B1 | c.481+9T>C (n.481+9T>C) | gnomAD v4 |
12 | g.21176907A>G | CA2617896207 | SLCO1B1 | c.481+10A>G (n.481+10A>G) | gnomAD v4 |
12 | g.21176907A>T | CA2617896208 | SLCO1B1 | c.481+10A>T (n.481+10A>T) | gnomAD v4 |
12 | g.21176908A>G | CA2617896209 | SLCO1B1 | c.481+11A>G (n.481+11A>G) | gnomAD v4 |
12 | g.21176909T>C | CA2020990640 | SLCO1B1 | c.481+12T>C (n.481+12T>C) | dbSNP gnomAD v4 |
12 | g.21176909T= | CA2020990639 | SLCO1B1 | c.481+12T= (n.481+12T=) | |
12 | g.21176910A= | CA2020990641 | SLCO1B1 | c.481+13A= (n.481+13A=) | |
12 | g.21176910A>G | CA6476696 | SLCO1B1 | c.481+13A>G (n.481+13A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176910A>T | CA2617896210 | SLCO1B1 | c.481+13A>T (n.481+13A>T) | gnomAD v4 |
12 | g.21176911T>C | CA603657680 | SLCO1B1 | c.481+14T>C (n.481+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176911T>G | CA603657681 | SLCO1B1 | c.481+14T>G (n.481+14T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176911T= | CA2020990642 | SLCO1B1 | c.481+14T= (n.481+14T=) | |
12 | g.21176912T>C | CA2617896211 | SLCO1B1 | c.481+15T>C (n.481+15T>C) | gnomAD v4 |
12 | g.21176913G>A | CA2617896212 | SLCO1B1 | c.481+16G>A (n.481+16G>A) | gnomAD v4 |
12 | g.21176913G>C | CA6476697 | SLCO1B1 | c.481+16G>C (n.481+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176913G= | CA2020990643 | SLCO1B1 | c.481+16G= (n.481+16G=) | |
12 | g.21176915C>A | CA233561060 | SLCO1B1 | c.481+18C>A (n.481+18C>A) | dbSNP gnomAD v4 |
12 | g.21176915C= | CA2020990644 | SLCO1B1 | c.481+18C= (n.481+18C=) | |
12 | g.21176915C>T | CA2617896213 | SLCO1B1 | c.481+18C>T (n.481+18C>T) | gnomAD v4 |
12 | g.21176916A>G | CA2617896214 | SLCO1B1 | c.481+19A>G (n.481+19A>G) | gnomAD v4 |
12 | g.21176917G>A | CA2617896215 | SLCO1B1 | c.481+20G>A (n.481+20G>A) | gnomAD v4 |
12 | g.21176917G>T | CA2794800750 | SLCO1B1 | c.481+20G>T (n.481+20G>T) | |
12 | g.21176917_21176918delinsGT | CA2020990645 | SLCO1B1 | c.481+20_481+21delinsGT (n.481+20_481+21delinsGT) | |
12 | g.21176918del | CA603657682 | SLCO1B1 | c.481+21del (n.481+21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176918T>C | CA2020990647 | SLCO1B1 | c.481+21T>C (n.481+21T>C) | dbSNP gnomAD v4 |
12 | g.21176918T= | CA2020990646 | SLCO1B1 | c.481+21T= (n.481+21T=) | |
12 | g.21176919A= | CA2020990648 | SLCO1B1 | c.481+22A= (n.481+22A=) | |
12 | g.21176919A>C | CA603657683 | SLCO1B1 | c.481+22A>C (n.481+22A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176923dup | CA2617896216 | SLCO1B1 | c.481+26dup (n.481+26dup) | gnomAD v4 |
12 | g.21176923del | CA2617896217 | SLCO1B1 | c.481+26del (n.481+26del) | gnomAD v4 |
12 | g.21176921A>G | CA2617896218 | SLCO1B1 | c.481+24A>G (n.481+24A>G) | gnomAD v4 |
12 | g.21176923A= | CA2020990649 | SLCO1B1 | c.481+26A= (n.481+26A=) | |
12 | g.21176923A>C | CA686354561 | SLCO1B1 | c.481+26A>C (n.481+26A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176923A>T | CA603657684 | SLCO1B1 | c.481+26A>T (n.481+26A>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176925T>A | CA2020990651 | SLCO1B1 | c.481+28T>A (n.481+28T>A) | dbSNP gnomAD v4 |
12 | g.21176925T>C | CA686354566 | SLCO1B1 | c.481+28T>C (n.481+28T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176925T= | CA2020990650 | SLCO1B1 | c.481+28T= (n.481+28T=) | |
12 | g.21176926C>A | CA2617896219 | SLCO1B1 | c.481+29C>A (n.481+29C>A) | gnomAD v4 |
12 | g.21176927T>C | CA6476698 | SLCO1B1 | c.481+30T>C (n.481+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176927T= | CA2020990652 | SLCO1B1 | c.481+30T= (n.481+30T=) | |
12 | g.21176928T>C | CA2617896220 | SLCO1B1 | c.481+31T>C (n.481+31T>C) | gnomAD v4 |
12 | g.21176929C>A | CA2617896221 | SLCO1B1 | c.481+32C>A (n.481+32C>A) | gnomAD v4 |
12 | g.21176930T>A | CA2617896222 | SLCO1B1 | c.481+33T>A (n.481+33T>A) | gnomAD v4 |
12 | g.21176930T>C | CA6476699 | SLCO1B1 | c.481+33T>C (n.481+33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176930T= | CA2020990653 | SLCO1B1 | c.481+33T= (n.481+33T=) | |
12 | g.21176931A= | CA2020990654 | SLCO1B1 | c.481+34A= (n.481+34A=) | |
12 | g.21176931A>G | CA6476700 | SLCO1B1 | c.481+34A>G (n.481+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176934del | CA2575096356 | SLCO1B1 | c.481+37del (n.481+37del) | gnomAD v4 |
12 | g.21176933A>G | CA2617896223 | SLCO1B1 | c.481+36A>G (n.481+36A>G) | gnomAD v4 |
12 | g.21176934A>G | CA2575096357 | SLCO1B1 | c.481+37A>G (n.481+37A>G) | gnomAD v4 |
12 | g.21176935T>C | CA686354569 | SLCO1B1 | c.481+38T>C (n.481+38T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176935T= | CA2020990655 | SLCO1B1 | c.481+38T= (n.481+38T=) | |
12 | g.21176936G>A | CA6476701 | SLCO1B1 | c.481+39G>A (n.481+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176936G= | CA2020990656 | SLCO1B1 | c.481+39G= (n.481+39G=) | |
12 | g.21176937T>C | CA6476702 | SLCO1B1 | c.481+40T>C (n.481+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176937T= | CA2020990657 | SLCO1B1 | c.481+40T= (n.481+40T=) | |
12 | g.21176938A= | CA2020990658 | SLCO1B1 | c.481+41A= (n.481+41A=) | |
12 | g.21176938A>G | CA603657685 | SLCO1B1 | c.481+41A>G (n.481+41A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176939T>A | CA2575096358 | SLCO1B1 | c.481+42T>A (n.481+42T>A) | |
12 | g.21176939T>C | CA2617896224 | SLCO1B1 | c.481+42T>C (n.481+42T>C) | gnomAD v4 |
12 | g.21176941C>A | CA2575096359 | SLCO1B1 | c.481+44C>A (n.481+44C>A) | dbSNP gnomAD v4 |
12 | g.21176941C= | CA2020990659 | SLCO1B1 | c.481+44C= (n.481+44C=) | |
12 | g.21176941C>T | CA233561098 | SLCO1B1 | c.481+44C>T (n.481+44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176942A>G | CA2617896225 | SLCO1B1 | c.481+45A>G (n.481+45A>G) | gnomAD v4 |
12 | g.21176945T>A | CA2617896227 | SLCO1B1 | c.481+48T>A (n.481+48T>A) | gnomAD v4 |
12 | g.21176945T>G | CA2020990661 | SLCO1B1 | c.481+48T>G (n.481+48T>G) | dbSNP gnomAD v4 |
12 | g.21176945T= | CA2020990660 | SLCO1B1 | c.481+48T= (n.481+48T=) | |
12 | g.21176946_21176948del | CA2617896226 | SLCO1B1 | c.481+49_481+51del (n.481+49_481+51del) | gnomAD v4 |
12 | g.21176945_21176946insTAG | CA2617896228 | SLCO1B1 | c.481+48_481+49insTAG (n.481+48_481+49insTAG) | gnomAD v4 |
12 | g.21176946A= | CA2020990662 | SLCO1B1 | c.481+49A= (n.481+49A=) | |
12 | g.21176946A>G | CA6476703 | SLCO1B1 | c.481+49A>G (n.481+49A>G) | dbSNP ExAC gnomAD v2 |
12 | g.21176946A>T | CA2575096360 | SLCO1B1 | c.481+49A>T (n.481+49A>T) | |
12 | g.21176947A= | CA2020990663 | SLCO1B1 | c.481+50A= (n.481+50A=) | |
12 | g.21176947A>T | CA603657686 | SLCO1B1 | c.481+50A>T (n.481+50A>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176948T>C | CA6476704 | SLCO1B1 | c.481+51T>C (n.481+51T>C) | dbSNP ExAC gnomAD v2 |
12 | g.21176948T= | CA2020990664 | SLCO1B1 | c.481+51T= (n.481+51T=) | |
12 | g.21176949T>C | CA2617896229 | SLCO1B1 | c.481+52T>C (n.481+52T>C) | gnomAD v4 |
12 | g.21176951C>A | CA2617896230 | SLCO1B1 | c.481+54C>A (n.481+54C>A) | gnomAD v4 |
12 | g.21176951C= | CA2020990665 | SLCO1B1 | c.481+54C= (n.481+54C=) | |
12 | g.21176951C>G | CA2617896231 | SLCO1B1 | c.481+54C>G (n.481+54C>G) | gnomAD v4 |
12 | g.21176951C>T | CA945497130 | SLCO1B1 | c.481+54C>T (n.481+54C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176952A= | CA2020990666 | SLCO1B1 | c.481+55A= (n.481+55A=) | |
12 | g.21176952A>G | CA603657687 | SLCO1B1 | c.481+55A>G (n.481+55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176954C>A | CA2617896232 | SLCO1B1 | c.481+57C>A (n.481+57C>A) | gnomAD v4 |
12 | g.21176955del | CA2575096361 | SLCO1B1 | c.481+58del (n.481+58del) | gnomAD v4 |
12 | g.21176955T>C | CA2531065058 | SLCO1B1 | c.481+58T>C (n.481+58T>C) | |
12 | g.21176956C= | CA2020990667 | SLCO1B1 | c.481+59C= (n.481+59C=) | |
12 | g.21176956C>G | CA2020990668 | SLCO1B1 | c.481+59C>G (n.481+59C>G) | dbSNP gnomAD v4 |
12 | g.21176956C>T | CA2617896233 | SLCO1B1 | c.481+59C>T (n.481+59C>T) | gnomAD v4 |
12 | g.21176957T>A | CA2617896234 | SLCO1B1 | c.481+60T>A (n.481+60T>A) | gnomAD v4 |
12 | g.21176958A>C | CA2575096362 | SLCO1B1 | c.481+61A>C (n.481+61A>C) | gnomAD v4 |
12 | g.21176962del | CA2617896235 | SLCO1B1 | c.481+65del (n.481+65del) | gnomAD v4 |
12 | g.21176962A= | CA2020990669 | SLCO1B1 | c.481+65A= (n.481+65A=) | |
12 | g.21176962A>G | CA2617896236 | SLCO1B1 | c.481+65A>G (n.481+65A>G) | gnomAD v4 |
12 | g.21176962A>T | CA233561099 | SLCO1B1 | c.481+65A>T (n.481+65A>T) | dbSNP |
12 | g.21176962_21176965delinsATTG | CA2020990670 | SLCO1B1 | c.481+65_481+68delinsATTG (n.481+65_481+68delinsATTG) | |
12 | g.21176963T>C | CA2617896237 | SLCO1B1 | c.481+66T>C (n.481+66T>C) | gnomAD v4 |
12 | g.21176967_21176969del | CA603657688 | SLCO1B1 | c.481+70_481+72del (n.481+70_481+72del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176964T>C | CA2794800753 | SLCO1B1 | c.481+67T>C (n.481+67T>C) | |
12 | g.21176964T>G | CA2507427821 | SLCO1B1 | c.481+67T>G (n.481+67T>G) | |
12 | g.21176968G>A | CA2617896238 | SLCO1B1 | c.481+71G>A (n.481+71G>A) | gnomAD v4 |
12 | g.21176969T>C | CA2617896239 | SLCO1B1 | c.481+72T>C (n.481+72T>C) | gnomAD v4 |
12 | g.21176970G>A | CA2617896240 | SLCO1B1 | c.481+73G>A (n.481+73G>A) | gnomAD v4 |
12 | g.21176970G>T | CA2617896241 | SLCO1B1 | c.481+73G>T (n.481+73G>T) | gnomAD v4 |
12 | g.21176971A>T | CA2617896242 | SLCO1B1 | c.481+74A>T (n.481+74A>T) | gnomAD v4 |
12 | g.21176972T>C | CA2617896243 | SLCO1B1 | c.481+75T>C (n.481+75T>C) | gnomAD v4 |
12 | g.21176974T>C | CA2617896244 | SLCO1B1 | c.481+77T>C (n.481+77T>C) | gnomAD v4 |
12 | g.21176976C>A | CA2575096363 | SLCO1B1 | c.481+79C>A (n.481+79C>A) | gnomAD v4 |
12 | g.21176976C>T | CA2617896245 | SLCO1B1 | c.481+79C>T (n.481+79C>T) | gnomAD v4 |
12 | g.21176977A>G | CA2617896246 | SLCO1B1 | c.481+80A>G (n.481+80A>G) | gnomAD v4 |
12 | g.21176978T>C | CA2617896247 | SLCO1B1 | c.481+81T>C (n.481+81T>C) | gnomAD v4 |
12 | g.21176979T>C | CA2575096364 | SLCO1B1 | c.481+82T>C (n.481+82T>C) | gnomAD v4 |
12 | g.21176979T>G | CA233561103 | SLCO1B1 | c.481+82T>G (n.481+82T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176979T= | CA2020990671 | SLCO1B1 | c.481+82T= (n.481+82T=) | |
12 | g.21176981G>A | CA945497135 | SLCO1B1 | c.481+84G>A (n.481+84G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176981G>C | CA233561106 | SLCO1B1 | c.481+84G>C (n.481+84G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176981G= | CA2020990672 | SLCO1B1 | c.481+84G= (n.481+84G=) | |
12 | g.21176982del | CA2725835126 | SLCO1B1 | c.481+85del (n.481+85del) | dbSNP |
12 | g.21176982C>A | CA2617896248 | SLCO1B1 | c.481+85C>A (n.481+85C>A) | gnomAD v4 |
12 | g.21176985A= | CA2020990673 | SLCO1B1 | c.481+88A= (n.481+88A=) | |
12 | g.21176985A>G | CA686354582 | SLCO1B1 | c.481+88A>G (n.481+88A>G) | dbSNP |
12 | g.21176989_21176993del | CA2617896249 | SLCO1B1 | c.481+92_481+96del (n.481+92_481+96del) | gnomAD v4 |
12 | g.21176986A>C | CA2617896250 | SLCO1B1 | c.481+89A>C (n.481+89A>C) | gnomAD v4 |
12 | g.21176987_21176991delinsTTTAA | CA2020990674 | SLCO1B1 | c.481+90_481+94delinsTTTAA (n.481+90_481+94delinsTTTAA) | |
12 | g.21176988T>G | CA686354611 | SLCO1B1 | c.481+91T>G (n.481+91T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176988T= | CA2020990675 | SLCO1B1 | c.481+91T= (n.481+91T=) | |
12 | g.21176992_21176995del | CA945497139 | SLCO1B1 | c.481+95_481+98del (n.481+95_481+98del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176989T>A | CA2575096365 | SLCO1B1 | c.481+92T>A (n.481+92T>A) | gnomAD v4 |
12 | g.21176991A= | CA2020990676 | SLCO1B1 | c.481+94A= (n.481+94A=) | |
12 | g.21176991A>G | CA2617896251 | SLCO1B1 | c.481+94A>G (n.481+94A>G) | gnomAD v4 |
12 | g.21176991A>T | CA2020990677 | SLCO1B1 | c.481+94A>T (n.481+94A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176993T>A | CA2575096366 | SLCO1B1 | c.481+96T>A (n.481+96T>A) | gnomAD v4 |
12 | g.21176994A>G | CA2725835131 | SLCO1B1 | c.481+97A>G (n.481+97A>G) | dbSNP |