Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87600103_87600105delinsAAC | CA1723661369 | ABCB1 | c.68+12_68+14delinsGTT (n.68+12_68+14delinsGTT) c.278+12_278+14delinsGTT (n.278+12_278+14delinsGTT) | |
7 | g.87600105_87600106del | CA4328711 | ABCB1 | c.68+12_68+13del (n.68+12_68+13del) c.278+12_278+13del (n.278+12_278+13del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600106A>C | CA2683609786 | ABCB1 | c.68+11T>G (n.68+11T>G) c.278+11T>G (n.278+11T>G) | gnomAD v4 |
7 | g.87600107A= | CA1723661370 | ABCB1 | c.68+10T= (n.68+10T=) c.278+10T= (n.278+10T=) | |
7 | g.87600107A>C | CA1104136818 | ABCB1 | c.68+10T>G (n.68+10T>G) c.278+10T>G (n.278+10T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87600108G>A | CA2715251644 | ABCB1 | c.68+9C>T (n.68+9C>T) c.278+9C>T (n.278+9C>T) | dbSNP |
7 | g.87600108G>T | CA2683609787 | ABCB1 | c.68+9C>A (n.68+9C>A) c.278+9C>A (n.278+9C>A) | gnomAD v4 |
7 | g.87600109C= | CA1723661371 | ABCB1 | c.68+8G= (n.68+8G=) c.278+8G= (n.278+8G=) | |
7 | g.87600109C>G | CA1723661372 | ABCB1 | c.68+8G>C (n.68+8G>C) c.278+8G>C (n.278+8G>C) | dbSNP |
7 | g.87600110T>C | CA2683609788 | ABCB1 | c.68+7A>G (n.68+7A>G) c.278+7A>G (n.278+7A>G) | gnomAD v4 |
7 | g.87600112G>C | CA2715251714 | ABCB1 | c.68+5C>G (n.68+5C>G) c.278+5C>G (n.278+5C>G) | dbSNP |
7 | g.87600113T>G | CA2683609789 | ABCB1 | c.68+4A>C (n.68+4A>C) c.278+4A>C (n.278+4A>C) | gnomAD v4 |
7 | g.87600115A= | CA1723661373 | ABCB1 | c.68+2T= (n.68+2T=) c.278+2T= (n.278+2T=) | |
7 | g.87600115A>C | CA368094216 | ABCB1 | c.68+2T>G (n.68+2T>G) c.278+2T>G (n.278+2T>G) | |
7 | g.87600115A>G | CA368094214 | ABCB1 | c.68+2T>C (n.68+2T>C) c.278+2T>C (n.278+2T>C) | dbSNP |
7 | g.87600115A>T | CA368094215 | ABCB1 | c.68+2T>A (n.68+2T>A) c.278+2T>A (n.278+2T>A) | |
7 | g.87600116C>A | CA368094217 | ABCB1 | c.68+1G>T (n.68+1G>T) c.278+1G>T (n.278+1G>T) | |
7 | g.87600116C= | CA1723661374 | ABCB1 | c.68+1G= (n.68+1G=) c.278+1G= (n.278+1G=) | |
7 | g.87600116C>G | CA368094218 | ABCB1 | c.68+1G>C (n.68+1G>C) c.278+1G>C (n.278+1G>C) | |
7 | g.87600116C>T | CA368094219 | ABCB1 | c.68+1G>A (n.68+1G>A) c.278+1G>A (n.278+1G>A) | ClinVar dbSNP |
7 | g.87600117C>A | CA368094220 | ABCB1 | c.68G>T (p.Ser23Ile) c.278G>T (p.Ser93Ile) | |
7 | g.87600117C>G | CA368094221 | ABCB1 | c.68G>C (p.Ser23Thr) c.278G>C (p.Ser93Thr) | |
7 | g.87600117C>T | CA368094222 | ABCB1 | c.68G>A (p.Ser23Asn) c.278G>A (p.Ser93Asn) | |
7 | g.87600118T>A | CA368094223 | ABCB1 | c.67A>T (p.Ser23Cys) c.277A>T (p.Ser93Cys) | |
7 | g.87600118T>C | CA368094224 | ABCB1 | c.67A>G (p.Ser23Gly) c.277A>G (p.Ser93Gly) | |
7 | g.87600118T>G | CA368094225 | ABCB1 | c.67A>C (p.Ser23Arg) c.277A>C (p.Ser93Arg) | |
7 | g.87600121del | CA2715251822 | ABCB1 | c.67del (p.Ser23ValfsTer?) c.277del (p.Ser93ValfsTer?) | dbSNP |
7 | g.87600119T>A | CA368094226 | ABCB1 | c.66A>T (p.Lys22Asn) c.276A>T (p.Lys92Asn) | |
7 | g.87600119T>C | CA456378596 | ABCB1 | c.66A>G (p.Lys22=) c.276A>G (p.Lys92=) | |
7 | g.87600119T>G | CA368094227 | ABCB1 | c.66A>C (p.Lys22Asn) c.276A>C (p.Lys92Asn) | |
7 | g.87600120T>A | CA368094229 | ABCB1 | c.65A>T (p.Lys22Ile) c.275A>T (p.Lys92Ile) | |
7 | g.87600120T>C | CA368094230 | ABCB1 | c.65A>G (p.Lys22Arg) c.275A>G (p.Lys92Arg) | |
7 | g.87600120T>G | CA368094228 | ABCB1 | c.65A>C (p.Lys22Thr) c.275A>C (p.Lys92Thr) | |
7 | g.87600121T>A | CA368094231 | ABCB1 | c.64A>T (p.Lys22Ter) c.274A>T (p.Lys92Ter) | |
7 | g.87600121T>C | CA368094232 | ABCB1 | c.64A>G (p.Lys22Glu) c.274A>G (p.Lys92Glu) | gnomAD v4 |
7 | g.87600121T>G | CA368094233 | ABCB1 | c.64A>C (p.Lys22Gln) c.274A>C (p.Lys92Gln) | |
7 | g.87600122A>C | CA368094234 | ABCB1 | c.63T>G (p.Asn21Lys) c.273T>G (p.Asn91Lys) | |
7 | g.87600122A>G | CA456378607 | ABCB1 | c.63T>C (p.Asn21=) c.273T>C (p.Asn91=) | |
7 | g.87600122A>T | CA368094235 | ABCB1 | c.63T>A (p.Asn21Lys) c.273T>A (p.Asn91Lys) | |
7 | g.87600123T>A | CA368094238 | ABCB1 | c.62A>T (p.Asn21Ile) c.272A>T (p.Asn91Ile) | |
7 | g.87600123T>C | CA368094237 | ABCB1 | c.62A>G (p.Asn21Ser) c.272A>G (p.Asn91Ser) | gnomAD v4 |
7 | g.87600123T>G | CA368094236 | ABCB1 | c.62A>C (p.Asn21Thr) c.272A>C (p.Asn91Thr) | |
7 | g.87600123_87600124delinsTT | CA1723661375 | ABCB1 | c.61_62delinsAA (p.Asn21=) c.271_272delinsAA (p.Asn91=) | |
7 | g.87600124T>A | CA162474189 | ABCB1 | c.61A>T (p.Asn21Tyr) c.271A>T (p.Asn91Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87600124T>C | CA4328712 | ABCB1 | c.61A>G (p.Asn21Asp) c.271A>G (p.Asn91Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600124T>G | CA162474190 | ABCB1 | c.61A>C (p.Asn21His) c.271A>C (p.Asn91His) | dbSNP |
7 | g.87600124T= | CA1723661376 | ABCB1 | c.61A= (p.Asn21=) c.271A= (p.Asn91=) | |
7 | g.87600124delinsAG | CA918067171 | ABCB1 | c.61delinsCT (p.Asn21LeufsTer2) c.271delinsCT (p.Asn91LeufsTer2) | dbSNP |
7 | g.87600125G>A | CA162474191 | ABCB1 | c.60C>T (p.Asn20=) c.270C>T (p.Asn90=) | dbSNP gnomAD v4 |
7 | g.87600125G>C | CA368094239 | ABCB1 | c.60C>G (p.Asn20Lys) c.270C>G (p.Asn90Lys) | |
7 | g.87600125G= | CA1723661377 | ABCB1 | c.60C= (p.Asn20=) c.270C= (p.Asn90=) | |
7 | g.87600125G>T | CA368094240 | ABCB1 | c.60C>A (p.Asn20Lys) c.270C>A (p.Asn90Lys) | |
7 | g.87600126T>A | CA368094241 | ABCB1 | c.59A>T (p.Asn20Ile) c.269A>T (p.Asn90Ile) | |
7 | g.87600126T>C | CA368094243 | ABCB1 | c.59A>G (p.Asn20Ser) c.269A>G (p.Asn90Ser) | |
7 | g.87600126T>G | CA368094242 | ABCB1 | c.59A>C (p.Asn20Thr) c.269A>C (p.Asn90Thr) | |
7 | g.87600127T>A | CA368094244 | ABCB1 | c.58A>T (p.Asn20Tyr) c.268A>T (p.Asn90Tyr) | |
7 | g.87600127T>C | CA368094245 | ABCB1 | c.58A>G (p.Asn20Asp) c.268A>G (p.Asn90Asp) | |
7 | g.87600127T>G | CA368094246 | ABCB1 | c.58A>C (p.Asn20His) c.268A>C (p.Asn90His) | |
7 | g.87600128C>A | CA456378627 | ABCB1 | c.57G>T (p.Leu19=) c.267G>T (p.Leu89=) | gnomAD v4 |
7 | g.87600128C= | CA1723661378 | ABCB1 | c.57G= (p.Leu19=) c.267G= (p.Leu89=) | |
7 | g.87600128C>G | CA456378629 | ABCB1 | c.57G>C (p.Leu19=) c.267G>C (p.Leu89=) | |
7 | g.87600128C>T | CA162474192 | ABCB1 | c.57G>A (p.Leu19=) c.267G>A (p.Leu89=) | dbSNP |
7 | g.87600129A= | CA1723661379 | ABCB1 | c.56T= (p.Leu19=) c.266T= (p.Leu89=) | |
7 | g.87600129A>C | CA368094247 | ABCB1 | c.56T>G (p.Leu19Arg) c.266T>G (p.Leu89Arg) | |
7 | g.87600129A>G | CA368094248 | ABCB1 | c.56T>C (p.Leu19Pro) c.266T>C (p.Leu89Pro) | |
7 | g.87600129A>T | CA4328713 | ABCB1 | c.56T>A (p.Leu19Gln) c.266T>A (p.Leu89Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600130G>A | CA162474193 | ABCB1 | c.55C>T (p.Leu19=) c.265C>T (p.Leu89=) | dbSNP gnomAD v4 |
7 | g.87600130G>C | CA4328714 | ABCB1 | c.55C>G (p.Leu19Val) c.265C>G (p.Leu89Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600130G= | CA1723661380 | ABCB1 | c.55C= (p.Leu19=) c.265C= (p.Leu89=) | |
7 | g.87600130G>T | CA368094249 | ABCB1 | c.55C>A (p.Leu19Met) c.265C>A (p.Leu89Met) | |
7 | g.87600131T>A | CA368094250 | ABCB1 | c.54A>T (p.Lys18Asn) c.264A>T (p.Lys88Asn) | |
7 | g.87600131T>C | CA456378638 | ABCB1 | c.54A>G (p.Lys18=) c.264A>G (p.Lys88=) | |
7 | g.87600131T>G | CA368094251 | ABCB1 | c.54A>C (p.Lys18Asn) c.264A>C (p.Lys88Asn) | |
7 | g.87600132T>A | CA368094254 | ABCB1 | c.53A>T (p.Lys18Ile) c.263A>T (p.Lys88Ile) | |
7 | g.87600132T>C | CA368094253 | ABCB1 | c.53A>G (p.Lys18Arg) c.263A>G (p.Lys88Arg) | |
7 | g.87600132T>G | CA368094252 | ABCB1 | c.53A>C (p.Lys18Thr) c.263A>C (p.Lys88Thr) | COSMIC |
7 | g.87600133T>A | CA368094256 | ABCB1 | c.52A>T (p.Lys18Ter) c.262A>T (p.Lys88Ter) | |
7 | g.87600133T>C | CA368094255 | ABCB1 | c.52A>G (p.Lys18Glu) c.262A>G (p.Lys88Glu) | |
7 | g.87600133T>G | CA162474194 | ABCB1 | c.52A>C (p.Lys18Gln) c.262A>C (p.Lys88Gln) | dbSNP |
7 | g.87600133T= | CA1723661381 | ABCB1 | c.52A= (p.Lys18=) c.262A= (p.Lys88=) | |
7 | g.87600134A= | CA1723661382 | ABCB1 | c.51T= (p.Phe17=) c.261T= (p.Phe87=) | |
7 | g.87600134A>C | CA368094257 | ABCB1 | c.51T>G (p.Phe17Leu) c.261T>G (p.Phe87Leu) | |
7 | g.87600134A>G | CA456378647 | ABCB1 | c.51T>C (p.Phe17=) c.261T>C (p.Phe87=) | |
7 | g.87600134A>T | CA4328715 | ABCB1 | c.51T>A (p.Phe17Leu) c.261T>A (p.Phe87Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600139dup | CA843407667 | ABCB1 | c.51dup (p.Lys18Ter) c.261dup (p.Lys88Ter) | dbSNP gnomAD v4 |
7 | g.87600139del | CA2740863428 | ABCB1 | c.51del (p.Phe17LeufsTer3) c.261del (p.Phe87LeufsTer3) | |
7 | g.87600135A= | CA1723661383 | ABCB1 | c.50T= (p.Phe17=) c.260T= (p.Phe87=) | |
7 | g.87600135A>C | CA368094258 | ABCB1 | c.50T>G (p.Phe17Cys) c.260T>G (p.Phe87Cys) | |
7 | g.87600135A>G | CA4328716 | ABCB1 | c.50T>C (p.Phe17Ser) c.260T>C (p.Phe87Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600135A>T | CA368094259 | ABCB1 | c.50T>A (p.Phe17Tyr) c.260T>A (p.Phe87Tyr) | |
7 | g.87600136A= | CA1723661384 | ABCB1 | c.49T= (p.Phe17=) c.259T= (p.Phe87=) | |
7 | g.87600136A>C | CA368094260 | ABCB1 | c.49T>G (p.Phe17Val) c.259T>G (p.Phe87Val) | |
7 | g.87600136A>G | CA4328717 | ABCB1 | c.49T>C (p.Phe17Leu) c.259T>C (p.Phe87Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600136A>T | CA368094261 | ABCB1 | c.49T>A (p.Phe17Ile) c.259T>A (p.Phe87Ile) | |
7 | g.87600137A= | CA1723661385 | ABCB1 | c.48T= (p.Phe16=) c.258T= (p.Phe86=) | |
7 | g.87600137A>C | CA368094262 | ABCB1 | c.48T>G (p.Phe16Leu) c.258T>G (p.Phe86Leu) | |
7 | g.87600137A>G | CA4328718 | ABCB1 | c.48T>C (p.Phe16=) c.258T>C (p.Phe86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600137A>T | CA368094263 | ABCB1 | c.48T>A (p.Phe16Leu) c.258T>A (p.Phe86Leu) | |
7 | g.87600138A>C | CA368094264 | ABCB1 | c.47T>G (p.Phe16Cys) c.257T>G (p.Phe86Cys) | |
7 | g.87600138A>G | CA368094266 | ABCB1 | c.47T>C (p.Phe16Ser) c.257T>C (p.Phe86Ser) | |
7 | g.87600138A>T | CA368094265 | ABCB1 | c.47T>A (p.Phe16Tyr) c.257T>A (p.Phe86Tyr) | |
7 | g.87600139A>C | CA368094267 | ABCB1 | c.46T>G (p.Phe16Val) c.256T>G (p.Phe86Val) | |
7 | g.87600139A>G | CA368094269 | ABCB1 | c.46T>C (p.Phe16Leu) c.256T>C (p.Phe86Leu) | gnomAD v4 |
7 | g.87600139A>T | CA368094268 | ABCB1 | c.46T>A (p.Phe16Ile) c.256T>A (p.Phe86Ile) | gnomAD v4 |
7 | g.87600140G>A | CA456378668 | ABCB1 | c.45C>T (p.Asn15=) c.255C>T (p.Asn85=) | |
7 | g.87600140G>C | CA368094270 | ABCB1 | c.45C>G (p.Asn15Lys) c.255C>G (p.Asn85Lys) | |
7 | g.87600140G>T | CA368094271 | ABCB1 | c.45C>A (p.Asn15Lys) c.255C>A (p.Asn85Lys) | gnomAD v4 |
7 | g.87600140_87600143delinsGTTC | CA1723661386 | ABCB1 | c.42_45delinsGAAC (p.Lys14=) c.252_255delinsGAAC (p.Lys84=) | |
7 | g.87600141T>A | CA368094272 | ABCB1 | c.44A>T (p.Asn15Ile) c.254A>T (p.Asn85Ile) | |
7 | g.87600141T>C | CA368094273 | ABCB1 | c.44A>G (p.Asn15Ser) c.254A>G (p.Asn85Ser) | COSMIC |
7 | g.87600141T>G | CA368094274 | ABCB1 | c.44A>C (p.Asn15Thr) c.254A>C (p.Asn85Thr) | gnomAD v4 |
7 | g.87600149_87600151del | CA4328719 | ABCB1 | c.42_44del (p.Lys14del) c.252_254del (p.Lys84del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.87600142T>A | CA368094275 | ABCB1 | c.43A>T (p.Asn15Tyr) c.253A>T (p.Asn85Tyr) | dbSNP |
7 | g.87600142T>C | CA368094276 | ABCB1 | c.43A>G (p.Asn15Asp) c.253A>G (p.Asn85Asp) | dbSNP |
7 | g.87600142T>G | CA368094277 | ABCB1 | c.43A>C (p.Asn15His) c.253A>C (p.Asn85His) | |
7 | g.87600143C>A | CA368094278 | ABCB1 | c.42G>T (p.Lys14Asn) c.252G>T (p.Lys84Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.87600143C= | CA1723661387 | ABCB1 | c.42G= (p.Lys14=) c.252G= (p.Lys84=) | |
7 | g.87600143C>G | CA368094279 | ABCB1 | c.42G>C (p.Lys14Asn) c.252G>C (p.Lys84Asn) | |
7 | g.87600143C>T | CA456378679 | ABCB1 | c.42G>A (p.Lys14=) c.252G>A (p.Lys84=) | |
7 | g.87600144T>A | CA368094282 | ABCB1 | c.41A>T (p.Lys14Met) c.251A>T (p.Lys84Met) | |
7 | g.87600144T>C | CA368094280 | ABCB1 | c.41A>G (p.Lys14Arg) c.251A>G (p.Lys84Arg) | dbSNP |
7 | g.87600144T>G | CA368094281 | ABCB1 | c.41A>C (p.Lys14Thr) c.251A>C (p.Lys84Thr) | |
7 | g.87600144T= | CA1723661388 | ABCB1 | c.41A= (p.Lys14=) c.251A= (p.Lys84=) | |
7 | g.87600145T>A | CA368094283 | ABCB1 | c.40A>T (p.Lys14Ter) c.250A>T (p.Lys84Ter) | |
7 | g.87600145T>C | CA368094284 | ABCB1 | c.40A>G (p.Lys14Glu) c.250A>G (p.Lys84Glu) | gnomAD v4 |
7 | g.87600145T>G | CA368094285 | ABCB1 | c.40A>C (p.Lys14Gln) c.250A>C (p.Lys84Gln) | |
7 | g.87600146C>A | CA368094286 | ABCB1 | c.39G>T (p.Lys13Asn) c.249G>T (p.Lys83Asn) | |
7 | g.87600146C>G | CA368094287 | ABCB1 | c.39G>C (p.Lys13Asn) c.249G>C (p.Lys83Asn) | |
7 | g.87600146C>T | CA456378689 | ABCB1 | c.39G>A (p.Lys13=) c.249G>A (p.Lys83=) | gnomAD v4 |
7 | g.87600147T>A | CA368094288 | ABCB1 | c.38A>T (p.Lys13Met) c.248A>T (p.Lys83Met) | gnomAD v4 |
7 | g.87600147T>C | CA368094289 | ABCB1 | c.38A>G (p.Lys13Arg) c.248A>G (p.Lys83Arg) | |
7 | g.87600147T>G | CA368094290 | ABCB1 | c.38A>C (p.Lys13Thr) c.248A>C (p.Lys83Thr) | |
7 | g.87600148T>A | CA368094291 | ABCB1 | c.37A>T (p.Lys13Ter) c.247A>T (p.Lys83Ter) | |
7 | g.87600148T>C | CA368094292 | ABCB1 | c.37A>G (p.Lys13Glu) c.247A>G (p.Lys83Glu) | |
7 | g.87600148T>G | CA368094293 | ABCB1 | c.37A>C (p.Lys13Gln) c.247A>C (p.Lys83Gln) | |
7 | g.87600149C>A | CA368094295 | ABCB1 | c.36G>T (p.Lys12Asn) c.246G>T (p.Lys82Asn) | gnomAD v4 |
7 | g.87600149C= | CA1723661389 | ABCB1 | c.36G= (p.Lys12=) c.246G= (p.Lys82=) | |
7 | g.87600149C>G | CA368094294 | ABCB1 | c.36G>C (p.Lys12Asn) c.246G>C (p.Lys82Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600149C>T | CA456378699 | ABCB1 | c.36G>A (p.Lys12=) c.246G>A (p.Lys82=) | dbSNP |
7 | g.87600150T>A | CA368094296 | ABCB1 | c.35A>T (p.Lys12Met) c.245A>T (p.Lys82Met) | |
7 | g.87600150T>C | CA368094297 | ABCB1 | c.35A>G (p.Lys12Arg) c.245A>G (p.Lys82Arg) | |
7 | g.87600150T>G | CA368094298 | ABCB1 | c.35A>C (p.Lys12Thr) c.245A>C (p.Lys82Thr) | |
7 | g.87600151T>A | CA368094299 | ABCB1 | c.34A>T (p.Lys12Ter) c.244A>T (p.Lys82Ter) | |
7 | g.87600151T>C | CA368094300 | ABCB1 | c.34A>G (p.Lys12Glu) c.244A>G (p.Lys82Glu) | |
7 | g.87600151T>G | CA4328720 | ABCB1 | c.34A>C (p.Lys12Gln) c.244A>C (p.Lys82Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600151T= | CA1723661390 | ABCB1 | c.34A= (p.Lys12=) c.244A= (p.Lys82=) | |
7 | g.87600152T>A | CA456378706 | ABCB1 | c.33A>T (p.Ala11=) c.243A>T (p.Ala81=) | |
7 | g.87600152T>C | CA456378708 | ABCB1 | c.33A>G (p.Ala11=) c.243A>G (p.Ala81=) | |
7 | g.87600152T>G | CA456378710 | ABCB1 | c.33A>C (p.Ala11=) c.243A>C (p.Ala81=) | |
7 | g.87600153G>A | CA368094303 | ABCB1 | c.32C>T (p.Ala11Val) c.242C>T (p.Ala81Val) | |
7 | g.87600153G>C | CA368094302 | ABCB1 | c.32C>G (p.Ala11Gly) c.242C>G (p.Ala81Gly) | dbSNP |
7 | g.87600153G= | CA1723661391 | ABCB1 | c.32C= (p.Ala11=) c.242C= (p.Ala81=) | |
7 | g.87600153G>T | CA368094301 | ABCB1 | c.32C>A (p.Ala11Glu) c.242C>A (p.Ala81Glu) | |
7 | g.87600154C>A | CA368094304 | ABCB1 | c.31G>T (p.Ala11Ser) c.241G>T (p.Ala81Ser) | |
7 | g.87600154C>G | CA368094305 | ABCB1 | c.31G>C (p.Ala11Pro) c.241G>C (p.Ala81Pro) | |
7 | g.87600154C>T | CA368094306 | ABCB1 | c.31G>A (p.Ala11Thr) c.241G>A (p.Ala81Thr) | dbSNP gnomAD v4 |
7 | g.87600155T>A | CA456378722 | ABCB1 | c.30A>T (p.Gly10=) c.240A>T (p.Gly80=) | |
7 | g.87600155T>C | CA456378720 | ABCB1 | c.30A>G (p.Gly10=) c.240A>G (p.Gly80=) | |
7 | g.87600155T>G | CA456378718 | ABCB1 | c.30A>C (p.Gly10=) c.240A>C (p.Gly80=) | |
7 | g.87600156C>A | CA368094307 | ABCB1 | c.29G>T (p.Gly10Val) c.239G>T (p.Gly80Val) | |
7 | g.87600156C= | CA1723661392 | ABCB1 | c.29G= (p.Gly10=) c.239G= (p.Gly80=) | |
7 | g.87600156C>G | CA368094308 | ABCB1 | c.29G>C (p.Gly10Ala) c.239G>C (p.Gly80Ala) | |
7 | g.87600156C>T | CA368094309 | ABCB1 | c.29G>A (p.Gly10Glu) c.239G>A (p.Gly80Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600157del | CA2578930395 | ABCB1 | c.29del (p.Gly10GlufsTer10) c.239del (p.Gly80GlufsTer10) | |
7 | g.87600157C>A | CA368094310 | ABCB1 | c.28G>T (p.Gly10Ter) c.238G>T (p.Gly80Ter) | |
7 | g.87600157C= | CA1723661393 | ABCB1 | c.28G= (p.Gly10=) c.238G= (p.Gly80=) | |
7 | g.87600157C>G | CA368094312 | ABCB1 | c.28G>C (p.Gly10Arg) c.238G>C (p.Gly80Arg) | |
7 | g.87600157C>T | CA368094311 | ABCB1 | c.28G>A (p.Gly10Arg) c.238G>A (p.Gly80Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600158T>A | CA456378730 | ABCB1 | c.27A>T (p.Gly9=) c.237A>T (p.Gly79=) | |
7 | g.87600158T>C | CA456378732 | ABCB1 | c.27A>G (p.Gly9=) c.237A>G (p.Gly79=) | |
7 | g.87600158T>G | CA456378734 | ABCB1 | c.27A>C (p.Gly9=) c.237A>C (p.Gly79=) | dbSNP |
7 | g.87600158T= | CA1723661394 | ABCB1 | c.27A= (p.Gly9=) c.237A= (p.Gly79=) | |
7 | g.87600159C>A | CA368094313 | ABCB1 | c.26G>T (p.Gly9Val) c.236G>T (p.Gly79Val) | |
7 | g.87600159C>G | CA368094314 | ABCB1 | c.26G>C (p.Gly9Ala) c.236G>C (p.Gly79Ala) | gnomAD v4 |
7 | g.87600159C>T | CA368094315 | ABCB1 | c.26G>A (p.Gly9Glu) c.236G>A (p.Gly79Glu) | gnomAD v4 |
7 | g.87600160C>A | CA368094316 | ABCB1 | c.25G>T (p.Gly9Ter) c.235G>T (p.Gly79Ter) | |
7 | g.87600160C>G | CA368094317 | ABCB1 | c.25G>C (p.Gly9Arg) c.235G>C (p.Gly79Arg) | |
7 | g.87600160C>T | CA368094318 | ABCB1 | c.25G>A (p.Gly9Arg) c.235G>A (p.Gly79Arg) | gnomAD v4 |
7 | g.87600161A= | CA1723661395 | ABCB1 | c.24T= (p.Asn8=) c.234T= (p.Asn78=) | |
7 | g.87600161A>C | CA4328721 | ABCB1 | c.24T>G (p.Asn8Lys) c.234T>G (p.Asn78Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600161A>G | CA456378744 | ABCB1 | c.24T>C (p.Asn8=) c.234T>C (p.Asn78=) | |
7 | g.87600161A>T | CA368094319 | ABCB1 | c.24T>A (p.Asn8Lys) c.234T>A (p.Asn78Lys) | |
7 | g.87600162T>A | CA368094321 | ABCB1 | c.23A>T (p.Asn8Ile) c.233A>T (p.Asn78Ile) | |
7 | g.87600162T>C | CA368094322 | ABCB1 | c.23A>G (p.Asn8Ser) c.233A>G (p.Asn78Ser) | dbSNP gnomAD v4 |
7 | g.87600162T>G | CA368094323 | ABCB1 | c.23A>C (p.Asn8Thr) c.233A>C (p.Asn78Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600162T= | CA1723661396 | ABCB1 | c.23A= (p.Asn8=) c.233A= (p.Asn78=) | |
7 | g.87600163dup | CA2683609790 | ABCB1 | c.23dup (p.Asn8LysfsTer11) c.233dup (p.Asn78LysfsTer11) | gnomAD v4 |
7 | g.87600163T>A | CA368094324 | ABCB1 | c.22A>T (p.Asn8Tyr) c.232A>T (p.Asn78Tyr) | |
7 | g.87600163T>C | CA368094326 | ABCB1 | c.22A>G (p.Asn8Asp) c.232A>G (p.Asn78Asp) | |
7 | g.87600163T>G | CA368094325 | ABCB1 | c.22A>C (p.Asn8His) c.232A>C (p.Asn78His) | |
7 | g.87600164G>A | CA456378752 | ABCB1 | c.21C>T (p.Arg7=) c.231C>T (p.Arg77=) | |
7 | g.87600164G>C | CA456378754 | ABCB1 | c.21C>G (p.Arg7=) c.231C>G (p.Arg77=) | |
7 | g.87600164G>T | CA456378756 | ABCB1 | c.21C>A (p.Arg7=) c.231C>A (p.Arg77=) | |
7 | g.87600164dup | CA2683609791 | ABCB1 | c.21dup (p.Asn8GlnfsTer11) c.231dup (p.Asn78GlnfsTer11) | gnomAD v4 |
7 | g.87600165C>A | CA368094327 | ABCB1 | c.20G>T (p.Arg7Leu) c.230G>T (p.Arg77Leu) | |
7 | g.87600165C= | CA1723661397 | ABCB1 | c.20G= (p.Arg7=) c.230G= (p.Arg77=) | |
7 | g.87600165C>G | CA368094328 | ABCB1 | c.20G>C (p.Arg7Pro) c.230G>C (p.Arg77Pro) | |
7 | g.87600165C>T | CA368094329 | ABCB1 | c.20G>A (p.Arg7His) c.230G>A (p.Arg77His) | dbSNP |
7 | g.87600166G>A | CA368094330 | ABCB1 | c.19C>T (p.Arg7Cys) c.229C>T (p.Arg77Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600166G>C | CA4328722 | ABCB1 | c.19C>G (p.Arg7Gly) c.229C>G (p.Arg77Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600166G= | CA1723661398 | ABCB1 | c.19C= (p.Arg7=) c.229C= (p.Arg77=) | |
7 | g.87600166G>T | CA368094331 | ABCB1 | c.19C>A (p.Arg7Ser) c.229C>A (p.Arg77Ser) | dbSNP gnomAD v4 |
7 | g.87600167G>A | CA162474195 | ABCB1 | c.18C>T (p.Asp6=) c.228C>T (p.Asp76=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600167G>C | CA368094333 | ABCB1 | c.18C>G (p.Asp6Glu) c.228C>G (p.Asp76Glu) | |
7 | g.87600167G= | CA1723661399 | ABCB1 | c.18C= (p.Asp6=) c.228C= (p.Asp76=) | |
7 | g.87600167G>T | CA368094332 | ABCB1 | c.18C>A (p.Asp6Glu) c.228C>A (p.Asp76Glu) | |
7 | g.87600167_87600168insACG | CA2776827946 | ABCB1 | c.18_19insGTC (p.Asp6_Arg7insVal) c.228_229insGTC (p.Asp76_Arg77insVal) | |
7 | g.87600168T>A | CA368094334 | ABCB1 | c.17A>T (p.Asp6Val) c.227A>T (p.Asp76Val) | |
7 | g.87600168T>C | CA368094335 | ABCB1 | c.17A>G (p.Asp6Gly) c.227A>G (p.Asp76Gly) | gnomAD v4 |
7 | g.87600168T>G | CA368094336 | ABCB1 | c.17A>C (p.Asp6Ala) c.227A>C (p.Asp76Ala) | |
7 | g.87600169C>A | CA368094337 | ABCB1 | c.16G>T (p.Asp6Tyr) c.226G>T (p.Asp76Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600169C= | CA1723661400 | ABCB1 | c.16G= (p.Asp6=) c.226G= (p.Asp76=) | |
7 | g.87600169C>G | CA4328723 | ABCB1 | c.16G>C (p.Asp6His) c.226G>C (p.Asp76His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600169C>T | CA368094338 | ABCB1 | c.16G>A (p.Asp6Asn) c.226G>A (p.Asp76Asn) | |
7 | g.87600170C>A | CA456378758 | ABCB1 | c.15G>T (p.Gly5=) c.225G>T (p.Gly75=) | |
7 | g.87600170C>G | CA456378759 | ABCB1 | c.15G>C (p.Gly5=) c.225G>C (p.Gly75=) | |
7 | g.87600170C>T | CA456378760 | ABCB1 | c.15G>A (p.Gly5=) c.225G>A (p.Gly75=) | |
7 | g.87600171C>A | CA4328724 | ABCB1 | c.14G>T (p.Gly5Val) c.224G>T (p.Gly75Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600171C= | CA1723661401 | ABCB1 | c.14G= (p.Gly5=) c.224G= (p.Gly75=) | |
7 | g.87600171C>G | CA368094340 | ABCB1 | c.14G>C (p.Gly5Ala) c.224G>C (p.Gly75Ala) | dbSNP gnomAD v4 |
7 | g.87600171C>T | CA368094339 | ABCB1 | c.14G>A (p.Gly5Glu) c.224G>A (p.Gly75Glu) | gnomAD v4 |
7 | g.87600172C>A | CA368094341 | ABCB1 | c.13G>T (p.Gly5Trp) c.223G>T (p.Gly75Trp) | |
7 | g.87600172C>G | CA368094342 | ABCB1 | c.13G>C (p.Gly5Arg) c.223G>C (p.Gly75Arg) | |
7 | g.87600172C>T | CA368094343 | ABCB1 | c.13G>A (p.Gly5Arg) c.223G>A (p.Gly75Arg) | |
7 | g.87600173T>A | CA368094344 | ABCB1 | c.12A>T (p.Glu4Asp) c.222A>T (p.Glu74Asp) | |
7 | g.87600173T>C | CA456378761 | ABCB1 | c.12A>G (p.Glu4=) c.222A>G (p.Glu74=) | gnomAD v4 |
7 | g.87600173T>G | CA368094345 | ABCB1 | c.12A>C (p.Glu4Asp) c.222A>C (p.Glu74Asp) | |
7 | g.87600174T>A | CA368094346 | ABCB1 | c.11A>T (p.Glu4Val) c.221A>T (p.Glu74Val) | |
7 | g.87600174T>C | CA368094347 | ABCB1 | c.11A>G (p.Glu4Gly) c.221A>G (p.Glu74Gly) | |
7 | g.87600174T>G | CA368094348 | ABCB1 | c.11A>C (p.Glu4Ala) c.221A>C (p.Glu74Ala) | |
7 | g.87600175C>A | CA368094349 | ABCB1 | c.10G>T (p.Glu4Ter) c.220G>T (p.Glu74Ter) | |
7 | g.87600175C>G | CA368094350 | ABCB1 | c.10G>C (p.Glu4Gln) c.220G>C (p.Glu74Gln) | |
7 | g.87600175C>T | CA368094351 | ABCB1 | c.10G>A (p.Glu4Lys) c.220G>A (p.Glu74Lys) | |
7 | g.87600176A>C | CA456378765 | ABCB1 | c.9T>G (p.Leu3=) c.219T>G (p.Leu73=) | |
7 | g.87600176A>G | CA456378764 | ABCB1 | c.9T>C (p.Leu3=) c.219T>C (p.Leu73=) | |
7 | g.87600176A>T | CA456378763 | ABCB1 | c.9T>A (p.Leu3=) c.219T>A (p.Leu73=) | |
7 | g.87600177A>C | CA368094352 | ABCB1 | c.8T>G (p.Leu3Arg) c.218T>G (p.Leu73Arg) | |
7 | g.87600177A>G | CA368094354 | ABCB1 | c.8T>C (p.Leu3Pro) c.218T>C (p.Leu73Pro) | |
7 | g.87600177A>T | CA368094353 | ABCB1 | c.8T>A (p.Leu3His) c.218T>A (p.Leu73His) | |
7 | g.87600178G>A | CA368094355 | ABCB1 | c.7C>T (p.Leu3Phe) c.217C>T (p.Leu73Phe) | |
7 | g.87600178G>C | CA368094356 | ABCB1 | c.7C>G (p.Leu3Val) c.217C>G (p.Leu73Val) | |
7 | g.87600178G>T | CA368094357 | ABCB1 | c.7C>A (p.Leu3Ile) c.217C>A (p.Leu73Ile) | |
7 | g.87600179A= | CA1723661402 | ABCB1 | c.6T= (p.Asp2=) c.216T= (p.Asp72=) | |
7 | g.87600179A>C | CA368094358 | ABCB1 | c.6T>G (p.Asp2Glu) c.216T>G (p.Asp72Glu) | |
7 | g.87600179A>G | CA4328725 | ABCB1 | c.6T>C (p.Asp2=) c.216T>C (p.Asp72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600179A>T | CA368094359 | ABCB1 | c.6T>A (p.Asp2Glu) c.216T>A (p.Asp72Glu) | |
7 | g.87600180T>A | CA368094360 | ABCB1 | c.5A>T (p.Asp2Val) c.215A>T (p.Asp72Val) | |
7 | g.87600180T>C | CA162474196 | ABCB1 | c.5A>G (p.Asp2Gly) c.215A>G (p.Asp72Gly) | dbSNP |
7 | g.87600180T>G | CA368094361 | ABCB1 | c.5A>C (p.Asp2Ala) c.215A>C (p.Asp72Ala) | |
7 | g.87600180T= | CA1723661403 | ABCB1 | c.5A= (p.Asp2=) c.215A= (p.Asp72=) | |
7 | g.87600181C>A | CA368094362 | ABCB1 | c.4G>T (p.Asp2Tyr) c.214G>T (p.Asp72Tyr) | |
7 | g.87600181C= | CA1723661404 | ABCB1 | c.4G= (p.Asp2=) c.214G= (p.Asp72=) | |
7 | g.87600181C>G | CA368094363 | ABCB1 | c.4G>C (p.Asp2His) c.214G>C (p.Asp72His) | |
7 | g.87600181C>T | CA368094364 | ABCB1 | c.4G>A (p.Asp2Asn) c.214G>A (p.Asp72Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600182C>A | CA368094367 | ABCB1 | c.3G>T (p.Met1Ile) c.213G>T (p.Met71Ile) | |
7 | g.87600182C= | CA1723661405 | ABCB1 | c.3G= (p.Met1=) c.213G= (p.Met71=) | |
7 | g.87600182C>G | CA368094365 | ABCB1 | c.3G>C (p.Met1Ile) c.213G>C (p.Met71Ile) | |
7 | g.87600182C>T | CA368094366 | ABCB1 | c.3G>A (p.Met1Ile) c.213G>A (p.Met71Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600183A>C | CA368094368 | ABCB1 | c.2T>G (p.Met1Arg) c.212T>G (p.Met71Arg) | |
7 | g.87600183A>G | CA368094369 | ABCB1 | c.2T>C (p.Met1Thr) c.212T>C (p.Met71Thr) | |
7 | g.87600183A>T | CA368094370 | ABCB1 | c.2T>A (p.Met1Lys) c.212T>A (p.Met71Lys) | |
7 | g.87600184T>A | CA368094371 | ABCB1 | c.1A>T (p.Met1Leu) c.211A>T (p.Met71Leu) | |
7 | g.87600184T>C | CA368094372 | ABCB1 | c.1A>G (p.Met1Val) c.211A>G (p.Met71Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600184T>G | CA368094373 | ABCB1 | c.1A>C (p.Met1Leu) c.211A>C (p.Met71Leu) | |
7 | g.87600184T= | CA1723661406 | ABCB1 | c.1A= (p.Met1=) c.211A= (p.Met71=) | |
7 | g.87600185T>A | CA843407760 | ABCB1 | c.-1A>T (n.-1A>T) c.210A>T (p.Gly70=) | dbSNP gnomAD v4 |
7 | g.87600185T>C | CA4328726 | ABCB1 | c.-1A>G (n.-1A>G) c.210A>G (p.Gly70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600185T>G | CA1723661407 | ABCB1 | c.-1A>C (n.-1A>C) c.210A>C (p.Gly70=) | dbSNP |
7 | g.87600185T= | CA1630834813 | ABCB1 | c.-1A= (n.-1A=) c.210A= (p.Gly70=) | |
7 | g.87600186C= | CA1723661408 | ABCB1 | c.-2G= (n.-2G=) c.209G= (p.Gly70=) | |
7 | g.87600186C>T | CA162474197 | ABCB1 | c.-2G>A (n.-2G>A) c.209G>A (p.Gly70Glu) | dbSNP |
7 | g.87600187C>A | CA576126711 | ABCB1 | c.-3G>T (n.-3G>T) c.208G>T (p.Gly70Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600187C= | CA1723661409 | ABCB1 | c.-3G= (n.-3G=) c.208G= (p.Gly70=) | |
7 | g.87600187C>G | CA843407769 | ABCB1 | c.-3G>C (n.-3G>C) c.208G>C (p.Gly70Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87600187C>T | CA576126712 | ABCB1 | c.-3G>A (n.-3G>A) c.208G>A (p.Gly70Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600188G>A | CA4328727 | ABCB1 | c.-4C>T (n.-4C>T) c.207C>T (p.Val69=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600188G>C | CA576126716 | ABCB1 | c.-4C>G (n.-4C>G) c.207C>G (p.Val69=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600188G= | CA1723661410 | ABCB1 | c.-4C= (n.-4C=) c.207C= (p.Val69=) | |
7 | g.87600188G>T | CA2683609792 | ABCB1 | c.-4C>A (n.-4C>A) c.207C>A (p.Val69=) | gnomAD v4 |
7 | g.87600190C>G | CA2683609793 | ABCB1 | c.-6G>C (n.-6G>C) c.205G>C (p.Val69Leu) | gnomAD v4 |
7 | g.87600191C>A | CA2683609794 | ABCB1 | c.-6-1G>T (n.-6-1G>T) c.205-1G>T (n.205-1G>T) | gnomAD v4 |
7 | g.87600191C= | CA1723661411 | ABCB1 | c.-6-1G= (n.-6-1G=) c.205-1G= (n.205-1G=) | |
7 | g.87600191C>G | CA1723661412 | ABCB1 | c.-6-1G>C (n.-6-1G>C) c.205-1G>C (n.205-1G>C) | dbSNP |
7 | g.87600194A= | CA1723661413 | ABCB1 | c.-6-4T= (n.-6-4T=) c.205-4T= (n.205-4T=) | |
7 | g.87600194A>T | CA4328728 | ABCB1 | c.-6-4T>A (n.-6-4T>A) c.205-4T>A (n.205-4T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600195A= | CA1723661414 | ABCB1 | c.-6-5T= (n.-6-5T=) c.205-5T= (n.205-5T=) | |
7 | g.87600195A>G | CA4328729 | ABCB1 | c.-6-5T>C (n.-6-5T>C) c.205-5T>C (n.205-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87600198_87600217delinsGAAACCGCAGCTCATTAGCC | CA1723661415 | ABCB1 | c.-6-27_-6-8delinsGGCTAATGAGCTGCGGTTTC (n.-6-27_-6-8delinsGGCTAATGAGCTGCGGTTTC) c.205-27_205-8delinsGGCTAATGAGCTGCGGTTTC (n.205-27_205-8delinsGGCTAATGAGCTGCGGTTTC) | |
7 | g.87600202_87600220del | CA1723661416 | ABCB1 | c.-6-27_-6-9del (n.-6-27_-6-9del) c.205-27_205-9del (n.205-27_205-9del) | dbSNP |
7 | g.87600200A>C | CA2578930396 | ABCB1 | c.-6-10T>G (n.-6-10T>G) c.205-10T>G (n.205-10T>G) | |
7 | g.87600201A= | CA1723661417 | ABCB1 | c.-6-11T= (n.-6-11T=) c.205-11T= (n.205-11T=) | |
7 | g.87600201A>C | CA1723661418 | ABCB1 | c.-6-11T>G (n.-6-11T>G) c.205-11T>G (n.205-11T>G) | dbSNP |
7 | g.87600203C>A | CA2683609795 | ABCB1 | c.-6-13G>T (n.-6-13G>T) c.205-13G>T (n.205-13G>T) | gnomAD v4 |
7 | g.87600203C>T | CA2683609796 | ABCB1 | c.-6-13G>A (n.-6-13G>A) c.205-13G>A (n.205-13G>A) | gnomAD v4 |