Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21009501G>A | CA345997305 | APOB | c.7367C>T (p.Ala2456Val) c.5869+1232C>T (n.5869+1232C>T) | |
2 | g.21009501G>C | CA345997306 | APOB | c.7367C>G (p.Ala2456Gly) c.5869+1232C>G (n.5869+1232C>G) | |
2 | g.21009501G= | CA2493476266 | APOB | c.7367C= (p.Ala2456=) c.5869+1232C= (n.5869+1232C=) | |
2 | g.21009501G>T | CA064348 | APOB | c.7367C>A (p.Ala2456Asp) c.5869+1232C>A (n.5869+1232C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009502C>A | CA345997307 | APOB | c.7366G>T (p.Ala2456Ser) c.5869+1231G>T (n.5869+1231G>T) | gnomAD v4 |
2 | g.21009502C>G | CA345997308 | APOB | c.7366G>C (p.Ala2456Pro) c.5869+1231G>C (n.5869+1231G>C) | |
2 | g.21009502C>T | CA345997309 | APOB | c.7366G>A (p.Ala2456Thr) c.5869+1231G>A (n.5869+1231G>A) | |
2 | g.21009503C>A | CA345997310 | APOB | c.7365G>T (p.Gln2455His) c.5869+1230G>T (n.5869+1230G>T) | |
2 | g.21009503C>G | CA345997311 | APOB | c.7365G>C (p.Gln2455His) c.5869+1230G>C (n.5869+1230G>C) | |
2 | g.21009503C>T | CA425345312 | APOB | c.7365G>A (p.Gln2455=) c.5869+1230G>A (n.5869+1230G>A) | |
2 | g.21009504T>A | CA345997312 | APOB | c.7364A>T (p.Gln2455Leu) c.5869+1229A>T (n.5869+1229A>T) | |
2 | g.21009504T>C | CA345997314 | APOB | c.7364A>G (p.Gln2455Arg) c.5869+1229A>G (n.5869+1229A>G) | |
2 | g.21009504T>G | CA345997313 | APOB | c.7364A>C (p.Gln2455Pro) c.5869+1229A>C (n.5869+1229A>C) | |
2 | g.21009505G>A | CA345997315 | APOB | c.7363C>T (p.Gln2455Ter) c.5869+1228C>T (n.5869+1228C>T) | ClinVar dbSNP |
2 | g.21009505G>C | CA345997316 | APOB | c.7363C>G (p.Gln2455Glu) c.5869+1228C>G (n.5869+1228C>G) | |
2 | g.21009505G= | CA2493476267 | APOB | c.7363C= (p.Gln2455=) c.5869+1228C= (n.5869+1228C=) | |
2 | g.21009505G>T | CA345997317 | APOB | c.7363C>A (p.Gln2455Lys) c.5869+1228C>A (n.5869+1228C>A) | |
2 | g.21009506A>C | CA345997318 | APOB | c.7362T>G (p.Ile2454Met) c.5869+1227T>G (n.5869+1227T>G) | |
2 | g.21009506A>G | CA425345317 | APOB | c.7362T>C (p.Ile2454=) c.5869+1227T>C (n.5869+1227T>C) | |
2 | g.21009506A>T | CA425345318 | APOB | c.7362T>A (p.Ile2454=) c.5869+1227T>A (n.5869+1227T>A) | |
2 | g.21009507A>C | CA345997319 | APOB | c.7361T>G (p.Ile2454Ser) c.5869+1226T>G (n.5869+1226T>G) | |
2 | g.21009507A>G | CA345997321 | APOB | c.7361T>C (p.Ile2454Thr) c.5869+1226T>C (n.5869+1226T>C) | |
2 | g.21009507A>T | CA345997320 | APOB | c.7361T>A (p.Ile2454Asn) c.5869+1226T>A (n.5869+1226T>A) | |
2 | g.21009508T>A | CA345997322 | APOB | c.7360A>T (p.Ile2454Phe) c.5869+1225A>T (n.5869+1225A>T) | |
2 | g.21009508T>C | CA345997323 | APOB | c.7360A>G (p.Ile2454Val) c.5869+1225A>G (n.5869+1225A>G) | |
2 | g.21009508T>G | CA345997324 | APOB | c.7360A>C (p.Ile2454Leu) c.5869+1225A>C (n.5869+1225A>C) | |
2 | g.21009509T>A | CA345997325 | APOB | c.7359A>T (p.Glu2453Asp) c.5869+1224A>T (n.5869+1224A>T) | |
2 | g.21009509T>C | CA425345320 | APOB | c.7359A>G (p.Glu2453=) c.5869+1224A>G (n.5869+1224A>G) | |
2 | g.21009509T>G | CA345997326 | APOB | c.7359A>C (p.Glu2453Asp) c.5869+1224A>C (n.5869+1224A>C) | |
2 | g.21009510T>A | CA345997327 | APOB | c.7358A>T (p.Glu2453Val) c.5869+1223A>T (n.5869+1223A>T) | |
2 | g.21009510T>C | CA345997328 | APOB | c.7358A>G (p.Glu2453Gly) c.5869+1223A>G (n.5869+1223A>G) | |
2 | g.21009510T>G | CA345997329 | APOB | c.7358A>C (p.Glu2453Ala) c.5869+1223A>C (n.5869+1223A>C) | |
2 | g.21009511C>A | CA345997330 | APOB | c.7357G>T (p.Glu2453Ter) c.5869+1222G>T (n.5869+1222G>T) | |
2 | g.21009511C>G | CA345997331 | APOB | c.7357G>C (p.Glu2453Gln) c.5869+1222G>C (n.5869+1222G>C) | |
2 | g.21009511C>T | CA345997332 | APOB | c.7357G>A (p.Glu2453Lys) c.5869+1222G>A (n.5869+1222G>A) | |
2 | g.21009512A>C | CA425345323 | APOB | c.7356T>G (p.Gly2452=) c.5869+1221T>G (n.5869+1221T>G) | |
2 | g.21009512A>G | CA425345325 | APOB | c.7356T>C (p.Gly2452=) c.5869+1221T>C (n.5869+1221T>C) | |
2 | g.21009512A>T | CA425345324 | APOB | c.7356T>A (p.Gly2452=) c.5869+1221T>A (n.5869+1221T>A) | |
2 | g.21009513C>A | CA345997333 | APOB | c.7355G>T (p.Gly2452Val) c.5869+1220G>T (n.5869+1220G>T) | |
2 | g.21009513C= | CA2493476268 | APOB | c.7355G= (p.Gly2452=) c.5869+1220G= (n.5869+1220G=) | |
2 | g.21009513C>G | CA064345 | APOB | c.7355G>C (p.Gly2452Ala) c.5869+1220G>C (n.5869+1220G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009513C>T | CA345997334 | APOB | c.7355G>A (p.Gly2452Asp) c.5869+1220G>A (n.5869+1220G>A) | |
2 | g.21009514del | CA2749094049 | APOB | c.7355del (p.Gly2452ValfsTer15) c.5869+1220del (n.5869+1220del) | |
2 | g.21009514C>A | CA345997335 | APOB | c.7354G>T (p.Gly2452Cys) c.5869+1219G>T (n.5869+1219G>T) | gnomAD v4 COSMIC |
2 | g.21009514C>G | CA345997337 | APOB | c.7354G>C (p.Gly2452Arg) c.5869+1219G>C (n.5869+1219G>C) | |
2 | g.21009514C>T | CA345997336 | APOB | c.7354G>A (p.Gly2452Ser) c.5869+1219G>A (n.5869+1219G>A) | |
2 | g.21009515A= | CA2493476269 | APOB | c.7353T= (p.Asn2451=) c.5869+1218T= (n.5869+1218T=) | |
2 | g.21009515A>C | CA345997338 | APOB | c.7353T>G (p.Asn2451Lys) c.5869+1218T>G (n.5869+1218T>G) | dbSNP |
2 | g.21009515A>G | CA064341 | APOB | c.7353T>C (p.Asn2451=) c.5869+1218T>C (n.5869+1218T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009515A>T | CA345997339 | APOB | c.7353T>A (p.Asn2451Lys) c.5869+1218T>A (n.5869+1218T>A) | |
2 | g.21009516T>A | CA345997340 | APOB | c.7352A>T (p.Asn2451Ile) c.5869+1217A>T (n.5869+1217A>T) | |
2 | g.21009516T>C | CA064334 | APOB | c.7352A>G (p.Asn2451Ser) c.5869+1217A>G (n.5869+1217A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009516T>G | CA345997341 | APOB | c.7352A>C (p.Asn2451Thr) c.5869+1217A>C (n.5869+1217A>C) | |
2 | g.21009516T= | CA2493476270 | APOB | c.7352A= (p.Asn2451=) c.5869+1217A= (n.5869+1217A=) | |
2 | g.21009517T>A | CA345997342 | APOB | c.7351A>T (p.Asn2451Tyr) c.5869+1216A>T (n.5869+1216A>T) | |
2 | g.21009517T>C | CA345997343 | APOB | c.7351A>G (p.Asn2451Asp) c.5869+1216A>G (n.5869+1216A>G) | gnomAD v4 |
2 | g.21009517T>G | CA345997344 | APOB | c.7351A>C (p.Asn2451His) c.5869+1216A>C (n.5869+1216A>C) | |
2 | g.21009518G>A | CA425345334 | APOB | c.7350C>T (p.Leu2450=) c.5869+1215C>T (n.5869+1215C>T) | dbSNP |
2 | g.21009518G>C | CA425345336 | APOB | c.7350C>G (p.Leu2450=) c.5869+1215C>G (n.5869+1215C>G) | gnomAD v4 |
2 | g.21009518G= | CA2493476271 | APOB | c.7350C= (p.Leu2450=) c.5869+1215C= (n.5869+1215C=) | |
2 | g.21009518G>T | CA425345337 | APOB | c.7350C>A (p.Leu2450=) c.5869+1215C>A (n.5869+1215C>A) | |
2 | g.21009519A= | CA2493476272 | APOB | c.7349T= (p.Leu2450=) c.5869+1214T= (n.5869+1214T=) | |
2 | g.21009519A>C | CA345997345 | APOB | c.7349T>G (p.Leu2450Arg) c.5869+1214T>G (n.5869+1214T>G) | |
2 | g.21009519A>G | CA345997346 | APOB | c.7349T>C (p.Leu2450Pro) c.5869+1214T>C (n.5869+1214T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009519A>T | CA345997347 | APOB | c.7349T>A (p.Leu2450His) c.5869+1214T>A (n.5869+1214T>A) | |
2 | g.21009520G>A | CA064327 | APOB | c.7348C>T (p.Leu2450Phe) c.5869+1213C>T (n.5869+1213C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009520G>C | CA345997348 | APOB | c.7348C>G (p.Leu2450Val) c.5869+1213C>G (n.5869+1213C>G) | |
2 | g.21009520G= | CA2493476273 | APOB | c.7348C= (p.Leu2450=) c.5869+1213C= (n.5869+1213C=) | |
2 | g.21009520G>T | CA345997349 | APOB | c.7348C>A (p.Leu2450Ile) c.5869+1213C>A (n.5869+1213C>A) | |
2 | g.21009521T>A | CA345997350 | APOB | c.7347A>T (p.Arg2449Ser) c.5869+1212A>T (n.5869+1212A>T) | |
2 | g.21009521T>C | CA425345344 | APOB | c.7347A>G (p.Arg2449=) c.5869+1212A>G (n.5869+1212A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21009521T>G | CA345997351 | APOB | c.7347A>C (p.Arg2449Ser) c.5869+1212A>C (n.5869+1212A>C) | |
2 | g.21009521T= | CA2493476274 | APOB | c.7347A= (p.Arg2449=) c.5869+1212A= (n.5869+1212A=) | |
2 | g.21009524_21009525del | CA645539127 | APOB | c.7346_7347del (p.Arg2449ThrfsTer4) c.5869+1211_5869+1212del (n.5869+1211_5869+1212del) | COSMIC |
2 | g.21009522C>A | CA345997353 | APOB | c.7346G>T (p.Arg2449Ile) c.5869+1211G>T (n.5869+1211G>T) | |
2 | g.21009522C= | CA2493476275 | APOB | c.7346G= (p.Arg2449=) c.5869+1211G= (n.5869+1211G=) | |
2 | g.21009522C>G | CA345997352 | APOB | c.7346G>C (p.Arg2449Thr) c.5869+1211G>C (n.5869+1211G>C) | |
2 | g.21009522C>T | CA43502707 | APOB | c.7346G>A (p.Arg2449Lys) c.5869+1211G>A (n.5869+1211G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009523T>A | CA345997354 | APOB | c.7345A>T (p.Arg2449Ter) c.5869+1210A>T (n.5869+1210A>T) | dbSNP |
2 | g.21009523T>C | CA345997355 | APOB | c.7345A>G (p.Arg2449Gly) c.5869+1210A>G (n.5869+1210A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009523T>G | CA425345348 | APOB | c.7345A>C (p.Arg2449=) c.5869+1210A>C (n.5869+1210A>C) | |
2 | g.21009523T= | CA2493476276 | APOB | c.7345A= (p.Arg2449=) c.5869+1210A= (n.5869+1210A=) | |
2 | g.21009524C>A | CA345997356 | APOB | c.7344G>T (p.Gln2448His) c.5869+1209G>T (n.5869+1209G>T) | |
2 | g.21009524C= | CA2493476277 | APOB | c.7344G= (p.Gln2448=) c.5869+1209G= (n.5869+1209G=) | |
2 | g.21009524C>G | CA345997357 | APOB | c.7344G>C (p.Gln2448His) c.5869+1209G>C (n.5869+1209G>C) | dbSNP |
2 | g.21009524C>T | CA425345349 | APOB | c.7344G>A (p.Gln2448=) c.5869+1209G>A (n.5869+1209G>A) | |
2 | g.21009525T>A | CA345997358 | APOB | c.7343A>T (p.Gln2448Leu) c.5869+1208A>T (n.5869+1208A>T) | |
2 | g.21009525T>C | CA345997359 | APOB | c.7343A>G (p.Gln2448Arg) c.5869+1208A>G (n.5869+1208A>G) | dbSNP |
2 | g.21009525T>G | CA345997360 | APOB | c.7343A>C (p.Gln2448Pro) c.5869+1208A>C (n.5869+1208A>C) | gnomAD v4 |
2 | g.21009525T= | CA2493476278 | APOB | c.7343A= (p.Gln2448=) c.5869+1208A= (n.5869+1208A=) | |
2 | g.21009526G>A | CA345997361 | APOB | c.7342C>T (p.Gln2448Ter) c.5869+1207C>T (n.5869+1207C>T) | |
2 | g.21009526G>C | CA345997362 | APOB | c.7342C>G (p.Gln2448Glu) c.5869+1207C>G (n.5869+1207C>G) | COSMIC |
2 | g.21009526G>T | CA345997363 | APOB | c.7342C>A (p.Gln2448Lys) c.5869+1207C>A (n.5869+1207C>A) | |
2 | g.21009527A= | CA2493476279 | APOB | c.7341T= (p.Thr2447=) c.5869+1206T= (n.5869+1206T=) | |
2 | g.21009527A>C | CA425345353 | APOB | c.7341T>G (p.Thr2447=) c.5869+1206T>G (n.5869+1206T>G) | |
2 | g.21009527A>G | CA064321 | APOB | c.7341T>C (p.Thr2447=) c.5869+1206T>C (n.5869+1206T>C) | dbSNP ExAC gnomAD v2 |
2 | g.21009527A>T | CA425345354 | APOB | c.7341T>A (p.Thr2447=) c.5869+1206T>A (n.5869+1206T>A) | |
2 | g.21009528G>A | CA345997366 | APOB | c.7340C>T (p.Thr2447Ile) c.5869+1205C>T (n.5869+1205C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009528G>C | CA345997365 | APOB | c.7340C>G (p.Thr2447Ser) c.5869+1205C>G (n.5869+1205C>G) | |
2 | g.21009528G= | CA2493476280 | APOB | c.7340C= (p.Thr2447=) c.5869+1205C= (n.5869+1205C=) | |
2 | g.21009528G>T | CA345997364 | APOB | c.7340C>A (p.Thr2447Asn) c.5869+1205C>A (n.5869+1205C>A) | |
2 | g.21009529T>A | CA43502719 | APOB | c.7339A>T (p.Thr2447Ser) c.5869+1204A>T (n.5869+1204A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009529T>C | CA345997367 | APOB | c.7339A>G (p.Thr2447Ala) c.5869+1204A>G (n.5869+1204A>G) | |
2 | g.21009529T>G | CA345997368 | APOB | c.7339A>C (p.Thr2447Pro) c.5869+1204A>C (n.5869+1204A>C) | |
2 | g.21009529T= | CA2493476281 | APOB | c.7339A= (p.Thr2447=) c.5869+1204A= (n.5869+1204A=) | |
2 | g.21009530C>A | CA425345358 | APOB | c.7338G>T (p.Val2446=) c.5869+1203G>T (n.5869+1203G>T) | |
2 | g.21009530C>G | CA425345359 | APOB | c.7338G>C (p.Val2446=) c.5869+1203G>C (n.5869+1203G>C) | |
2 | g.21009530C>T | CA425345360 | APOB | c.7338G>A (p.Val2446=) c.5869+1203G>A (n.5869+1203G>A) | |
2 | g.21009531A>C | CA345997369 | APOB | c.7337T>G (p.Val2446Gly) c.5869+1202T>G (n.5869+1202T>G) | |
2 | g.21009531A>G | CA345997370 | APOB | c.7337T>C (p.Val2446Ala) c.5869+1202T>C (n.5869+1202T>C) | |
2 | g.21009531A>T | CA345997371 | APOB | c.7337T>A (p.Val2446Glu) c.5869+1202T>A (n.5869+1202T>A) | |
2 | g.21009532C>A | CA345997372 | APOB | c.7336G>T (p.Val2446Leu) c.5869+1201G>T (n.5869+1201G>T) | |
2 | g.21009532C= | CA2493476282 | APOB | c.7336G= (p.Val2446=) c.5869+1201G= (n.5869+1201G=) | |
2 | g.21009532C>G | CA43502723 | APOB | c.7336G>C (p.Val2446Leu) c.5869+1201G>C (n.5869+1201G>C) | dbSNP |
2 | g.21009532C>T | CA064314 | APOB | c.7336G>A (p.Val2446Met) c.5869+1201G>A (n.5869+1201G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009533C>A | CA345997373 | APOB | c.7335G>T (p.Glu2445Asp) c.5869+1200G>T (n.5869+1200G>T) | |
2 | g.21009533C>G | CA345997374 | APOB | c.7335G>C (p.Glu2445Asp) c.5869+1200G>C (n.5869+1200G>C) | |
2 | g.21009533C>T | CA425345369 | APOB | c.7335G>A (p.Glu2445=) c.5869+1200G>A (n.5869+1200G>A) | dbSNP |
2 | g.21009534T>A | CA345997377 | APOB | c.7334A>T (p.Glu2445Val) c.5869+1199A>T (n.5869+1199A>T) | gnomAD v4 |
2 | g.21009534T>C | CA345997376 | APOB | c.7334A>G (p.Glu2445Gly) c.5869+1199A>G (n.5869+1199A>G) | |
2 | g.21009534T>G | CA345997375 | APOB | c.7334A>C (p.Glu2445Ala) c.5869+1199A>C (n.5869+1199A>C) | gnomAD v4 |
2 | g.21009535C>A | CA345997378 | APOB | c.7333G>T (p.Glu2445Ter) c.5869+1198G>T (n.5869+1198G>T) | dbSNP |
2 | g.21009535C= | CA2493476283 | APOB | c.7333G= (p.Glu2445=) c.5869+1198G= (n.5869+1198G=) | |
2 | g.21009535C>G | CA345997379 | APOB | c.7333G>C (p.Glu2445Gln) c.5869+1198G>C (n.5869+1198G>C) | |
2 | g.21009535C>T | CA43502755 | APOB | c.7333G>A (p.Glu2445Lys) c.5869+1198G>A (n.5869+1198G>A) | dbSNP gnomAD v4 |
2 | g.21009536A>C | CA425345379 | APOB | c.7332T>G (p.Arg2444=) c.5869+1197T>G (n.5869+1197T>G) | |
2 | g.21009536A>G | CA425345378 | APOB | c.7332T>C (p.Arg2444=) c.5869+1197T>C (n.5869+1197T>C) | |
2 | g.21009536A>T | CA425345376 | APOB | c.7332T>A (p.Arg2444=) c.5869+1197T>A (n.5869+1197T>A) | |
2 | g.21009537C>A | CA345997380 | APOB | c.7331G>T (p.Arg2444Leu) c.5869+1196G>T (n.5869+1196G>T) | |
2 | g.21009537C= | CA2493476284 | APOB | c.7331G= (p.Arg2444=) c.5869+1196G= (n.5869+1196G=) | |
2 | g.21009537C>G | CA345997381 | APOB | c.7331G>C (p.Arg2444Pro) c.5869+1196G>C (n.5869+1196G>C) | |
2 | g.21009537C>T | CA064309 | APOB | c.7331G>A (p.Arg2444His) c.5869+1196G>A (n.5869+1196G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009538G>A | CA064304 | APOB | c.7330C>T (p.Arg2444Cys) c.5869+1195C>T (n.5869+1195C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009538G>C | CA345997382 | APOB | c.7330C>G (p.Arg2444Gly) c.5869+1195C>G (n.5869+1195C>G) | |
2 | g.21009538G= | CA2493476285 | APOB | c.7330C= (p.Arg2444=) c.5869+1195C= (n.5869+1195C=) | |
2 | g.21009538G>T | CA345997383 | APOB | c.7330C>A (p.Arg2444Ser) c.5869+1195C>A (n.5869+1195C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009539G>A | CA425345142 | APOB | c.7329C>T (p.Ile2443=) c.5869+1194C>T (n.5869+1194C>T) | |
2 | g.21009539G>C | CA345997384 | APOB | c.7329C>G (p.Ile2443Met) c.5869+1194C>G (n.5869+1194C>G) | |
2 | g.21009539G>T | CA425345143 | APOB | c.7329C>A (p.Ile2443=) c.5869+1194C>A (n.5869+1194C>A) | |
2 | g.21009540A>C | CA345997385 | APOB | c.7328T>G (p.Ile2443Ser) c.5869+1193T>G (n.5869+1193T>G) | |
2 | g.21009540A>G | CA345997386 | APOB | c.7328T>C (p.Ile2443Thr) c.5869+1193T>C (n.5869+1193T>C) | |
2 | g.21009540A>T | CA345997387 | APOB | c.7328T>A (p.Ile2443Asn) c.5869+1193T>A (n.5869+1193T>A) | |
2 | g.21009541T>A | CA345997390 | APOB | c.7327A>T (p.Ile2443Phe) c.5869+1192A>T (n.5869+1192A>T) | gnomAD v4 |
2 | g.21009541T>C | CA345997389 | APOB | c.7327A>G (p.Ile2443Val) c.5869+1192A>G (n.5869+1192A>G) | |
2 | g.21009541T>G | CA345997388 | APOB | c.7327A>C (p.Ile2443Leu) c.5869+1192A>C (n.5869+1192A>C) | |
2 | g.21009542T>A | CA345997392 | APOB | c.7326A>T (p.Lys2442Asn) c.5869+1191A>T (n.5869+1191A>T) | |
2 | g.21009542T>C | CA425345158 | APOB | c.7326A>G (p.Lys2442=) c.5869+1191A>G (n.5869+1191A>G) | |
2 | g.21009542T>G | CA345997391 | APOB | c.7326A>C (p.Lys2442Asn) c.5869+1191A>C (n.5869+1191A>C) | |
2 | g.21009543T>A | CA345997395 | APOB | c.7325A>T (p.Lys2442Ile) c.5869+1190A>T (n.5869+1190A>T) | |
2 | g.21009543T>C | CA345997393 | APOB | c.7325A>G (p.Lys2442Arg) c.5869+1190A>G (n.5869+1190A>G) | |
2 | g.21009543T>G | CA345997394 | APOB | c.7325A>C (p.Lys2442Thr) c.5869+1190A>C (n.5869+1190A>C) | |
2 | g.21009544T>A | CA345997396 | APOB | c.7324A>T (p.Lys2442Ter) c.5869+1189A>T (n.5869+1189A>T) | |
2 | g.21009544T>C | CA345997397 | APOB | c.7324A>G (p.Lys2442Glu) c.5869+1189A>G (n.5869+1189A>G) | |
2 | g.21009544T>G | CA345997398 | APOB | c.7324A>C (p.Lys2442Gln) c.5869+1189A>C (n.5869+1189A>C) | |
2 | g.21009545G>A | CA425345168 | APOB | c.7323C>T (p.Asp2441=) c.5869+1188C>T (n.5869+1188C>T) | |
2 | g.21009545G>C | CA345997399 | APOB | c.7323C>G (p.Asp2441Glu) c.5869+1188C>G (n.5869+1188C>G) | |
2 | g.21009545G>T | CA345997400 | APOB | c.7323C>A (p.Asp2441Glu) c.5869+1188C>A (n.5869+1188C>A) | |
2 | g.21009546T>A | CA345997401 | APOB | c.7322A>T (p.Asp2441Val) c.5869+1187A>T (n.5869+1187A>T) | |
2 | g.21009546T>C | CA345997402 | APOB | c.7322A>G (p.Asp2441Gly) c.5869+1187A>G (n.5869+1187A>G) | gnomAD v4 |
2 | g.21009546T>G | CA345997403 | APOB | c.7322A>C (p.Asp2441Ala) c.5869+1187A>C (n.5869+1187A>C) | |
2 | g.21009547C>A | CA345997404 | APOB | c.7321G>T (p.Asp2441Tyr) c.5869+1186G>T (n.5869+1186G>T) | |
2 | g.21009547C= | CA2493476286 | APOB | c.7321G= (p.Asp2441=) c.5869+1186G= (n.5869+1186G=) | |
2 | g.21009547C>G | CA345997405 | APOB | c.7321G>C (p.Asp2441His) c.5869+1186G>C (n.5869+1186G>C) | |
2 | g.21009547C>T | CA43502791 | APOB | c.7321G>A (p.Asp2441Asn) c.5869+1186G>A (n.5869+1186G>A) | dbSNP COSMIC |
2 | g.21009548A>C | CA345997406 | APOB | c.7320T>G (p.Asn2440Lys) c.5869+1185T>G (n.5869+1185T>G) | |
2 | g.21009548A>G | CA425345175 | APOB | c.7320T>C (p.Asn2440=) c.5869+1185T>C (n.5869+1185T>C) | gnomAD v4 |
2 | g.21009548A>T | CA345997407 | APOB | c.7320T>A (p.Asn2440Lys) c.5869+1185T>A (n.5869+1185T>A) | |
2 | g.21009549T>A | CA345997408 | APOB | c.7319A>T (p.Asn2440Ile) c.5869+1184A>T (n.5869+1184A>T) | COSMIC |
2 | g.21009549T>C | CA345997409 | APOB | c.7319A>G (p.Asn2440Ser) c.5869+1184A>G (n.5869+1184A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009549T>G | CA345997410 | APOB | c.7319A>C (p.Asn2440Thr) c.5869+1184A>C (n.5869+1184A>C) | |
2 | g.21009549T= | CA2493476287 | APOB | c.7319A= (p.Asn2440=) c.5869+1184A= (n.5869+1184A=) | |
2 | g.21009550T>A | CA345997411 | APOB | c.7318A>T (p.Asn2440Tyr) c.5869+1183A>T (n.5869+1183A>T) | |
2 | g.21009550T>C | CA345997412 | APOB | c.7318A>G (p.Asn2440Asp) c.5869+1183A>G (n.5869+1183A>G) | |
2 | g.21009550T>G | CA345997413 | APOB | c.7318A>C (p.Asn2440His) c.5869+1183A>C (n.5869+1183A>C) | |
2 | g.21009551G>A | CA425345185 | APOB | c.7317C>T (p.Thr2439=) c.5869+1182C>T (n.5869+1182C>T) | gnomAD v4 |
2 | g.21009551G>C | CA425345186 | APOB | c.7317C>G (p.Thr2439=) c.5869+1182C>G (n.5869+1182C>G) | |
2 | g.21009551G>T | CA425345188 | APOB | c.7317C>A (p.Thr2439=) c.5869+1182C>A (n.5869+1182C>A) | gnomAD v4 |
2 | g.21009552G>A | CA345997414 | APOB | c.7316C>T (p.Thr2439Ile) c.5869+1181C>T (n.5869+1181C>T) | |
2 | g.21009552G>C | CA345997415 | APOB | c.7316C>G (p.Thr2439Ser) c.5869+1181C>G (n.5869+1181C>G) | |
2 | g.21009552G>T | CA345997416 | APOB | c.7316C>A (p.Thr2439Asn) c.5869+1181C>A (n.5869+1181C>A) | |
2 | g.21009553T>A | CA064300 | APOB | c.7315A>T (p.Thr2439Ser) c.5869+1180A>T (n.5869+1180A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009553T>C | CA345997417 | APOB | c.7315A>G (p.Thr2439Ala) c.5869+1180A>G (n.5869+1180A>G) | |
2 | g.21009553T>G | CA345997418 | APOB | c.7315A>C (p.Thr2439Pro) c.5869+1180A>C (n.5869+1180A>C) | |
2 | g.21009553T= | CA2493476288 | APOB | c.7315A= (p.Thr2439=) c.5869+1180A= (n.5869+1180A=) | |
2 | g.21009554T>A | CA345997420 | APOB | c.7314A>T (p.Glu2438Asp) c.5869+1179A>T (n.5869+1179A>T) | |
2 | g.21009554T>C | CA425345196 | APOB | c.7314A>G (p.Glu2438=) c.5869+1179A>G (n.5869+1179A>G) | |
2 | g.21009554T>G | CA345997419 | APOB | c.7314A>C (p.Glu2438Asp) c.5869+1179A>C (n.5869+1179A>C) | |
2 | g.21009555T>A | CA345997421 | APOB | c.7313A>T (p.Glu2438Val) c.5869+1178A>T (n.5869+1178A>T) | |
2 | g.21009555T>C | CA345997423 | APOB | c.7313A>G (p.Glu2438Gly) c.5869+1178A>G (n.5869+1178A>G) | |
2 | g.21009555T>G | CA345997422 | APOB | c.7313A>C (p.Glu2438Ala) c.5869+1178A>C (n.5869+1178A>C) | |
2 | g.21009556C>A | CA345997424 | APOB | c.7312G>T (p.Glu2438Ter) c.5869+1177G>T (n.5869+1177G>T) | |
2 | g.21009556C>G | CA345997425 | APOB | c.7312G>C (p.Glu2438Gln) c.5869+1177G>C (n.5869+1177G>C) | |
2 | g.21009556C>T | CA345997426 | APOB | c.7312G>A (p.Glu2438Lys) c.5869+1177G>A (n.5869+1177G>A) | COSMIC |
2 | g.21009557A>C | CA345997427 | APOB | c.7311T>G (p.Asp2437Glu) c.5869+1176T>G (n.5869+1176T>G) | |
2 | g.21009557A>G | CA425345203 | APOB | c.7311T>C (p.Asp2437=) c.5869+1176T>C (n.5869+1176T>C) | gnomAD v4 |
2 | g.21009557A>T | CA345997428 | APOB | c.7311T>A (p.Asp2437Glu) c.5869+1176T>A (n.5869+1176T>A) | |
2 | g.21009558T>A | CA345997429 | APOB | c.7310A>T (p.Asp2437Val) c.5869+1175A>T (n.5869+1175A>T) | |
2 | g.21009558T>C | CA345997430 | APOB | c.7310A>G (p.Asp2437Gly) c.5869+1175A>G (n.5869+1175A>G) | |
2 | g.21009558T>G | CA345997431 | APOB | c.7310A>C (p.Asp2437Ala) c.5869+1175A>C (n.5869+1175A>C) | |
2 | g.21009559C>A | CA345997432 | APOB | c.7309G>T (p.Asp2437Tyr) c.5869+1174G>T (n.5869+1174G>T) | |
2 | g.21009559C>G | CA345997433 | APOB | c.7309G>C (p.Asp2437His) c.5869+1174G>C (n.5869+1174G>C) | |
2 | g.21009559C>T | CA345997434 | APOB | c.7309G>A (p.Asp2437Asn) c.5869+1174G>A (n.5869+1174G>A) | |
2 | g.21009560T>A | CA425345208 | APOB | c.7308A>T (p.Val2436=) c.5869+1173A>T (n.5869+1173A>T) | |
2 | g.21009560T>C | CA425345207 | APOB | c.7308A>G (p.Val2436=) c.5869+1173A>G (n.5869+1173A>G) | |
2 | g.21009560T>G | CA425345206 | APOB | c.7308A>C (p.Val2436=) c.5869+1173A>C (n.5869+1173A>C) | |
2 | g.21009561A= | CA2493476289 | APOB | c.7307T= (p.Val2436=) c.5869+1172T= (n.5869+1172T=) | |
2 | g.21009561A>C | CA345997437 | APOB | c.7307T>G (p.Val2436Gly) c.5869+1172T>G (n.5869+1172T>G) | |
2 | g.21009561A>G | CA345997436 | APOB | c.7307T>C (p.Val2436Ala) c.5869+1172T>C (n.5869+1172T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009561A>T | CA345997435 | APOB | c.7307T>A (p.Val2436Glu) c.5869+1172T>A (n.5869+1172T>A) | |
2 | g.21009562C>A | CA345997438 | APOB | c.7306G>T (p.Val2436Leu) c.5869+1171G>T (n.5869+1171G>T) | |
2 | g.21009562C>G | CA345997439 | APOB | c.7306G>C (p.Val2436Leu) c.5869+1171G>C (n.5869+1171G>C) | |
2 | g.21009562C>T | CA345997440 | APOB | c.7306G>A (p.Val2436Ile) c.5869+1171G>A (n.5869+1171G>A) | |
2 | g.21009563A>C | CA345997441 | APOB | c.7305T>G (p.Phe2435Leu) c.5869+1170T>G (n.5869+1170T>G) | |
2 | g.21009563A>G | CA425345211 | APOB | c.7305T>C (p.Phe2435=) c.5869+1170T>C (n.5869+1170T>C) | |
2 | g.21009563A>T | CA345997442 | APOB | c.7305T>A (p.Phe2435Leu) c.5869+1170T>A (n.5869+1170T>A) | |
2 | g.21009564A= | CA2493476290 | APOB | c.7304T= (p.Phe2435=) c.5869+1169T= (n.5869+1169T=) | |
2 | g.21009564A>C | CA345997443 | APOB | c.7304T>G (p.Phe2435Cys) c.5869+1169T>G (n.5869+1169T>G) | |
2 | g.21009564A>G | CA43502837 | APOB | c.7304T>C (p.Phe2435Ser) c.5869+1169T>C (n.5869+1169T>C) | dbSNP |
2 | g.21009564A>T | CA345997444 | APOB | c.7304T>A (p.Phe2435Tyr) c.5869+1169T>A (n.5869+1169T>A) | |
2 | g.21009565A>C | CA345997445 | APOB | c.7303T>G (p.Phe2435Val) c.5869+1168T>G (n.5869+1168T>G) | |
2 | g.21009565A>G | CA345997446 | APOB | c.7303T>C (p.Phe2435Leu) c.5869+1168T>C (n.5869+1168T>C) | |
2 | g.21009565A>T | CA345997447 | APOB | c.7303T>A (p.Phe2435Ile) c.5869+1168T>A (n.5869+1168T>A) | |
2 | g.21009566C>A | CA345997448 | APOB | c.7302G>T (p.Gln2434His) c.5869+1167G>T (n.5869+1167G>T) | |
2 | g.21009566C>G | CA345997449 | APOB | c.7302G>C (p.Gln2434His) c.5869+1167G>C (n.5869+1167G>C) | |
2 | g.21009566C>T | CA425345213 | APOB | c.7302G>A (p.Gln2434=) c.5869+1167G>A (n.5869+1167G>A) | |
2 | g.21009567T>A | CA345997451 | APOB | c.7301A>T (p.Gln2434Leu) c.5869+1166A>T (n.5869+1166A>T) | |
2 | g.21009567T>C | CA345997452 | APOB | c.7301A>G (p.Gln2434Arg) c.5869+1166A>G (n.5869+1166A>G) | |
2 | g.21009567T>G | CA345997450 | APOB | c.7301A>C (p.Gln2434Pro) c.5869+1166A>C (n.5869+1166A>C) | |
2 | g.21009568G>A | CA345997453 | APOB | c.7300C>T (p.Gln2434Ter) c.5869+1165C>T (n.5869+1165C>T) | |
2 | g.21009568G>C | CA345997454 | APOB | c.7300C>G (p.Gln2434Glu) c.5869+1165C>G (n.5869+1165C>G) | |
2 | g.21009568G>T | CA345997455 | APOB | c.7300C>A (p.Gln2434Lys) c.5869+1165C>A (n.5869+1165C>A) | |
2 | g.21009569G>A | CA425345218 | APOB | c.7299C>T (p.His2433=) c.5869+1164C>T (n.5869+1164C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009569G>C | CA345997456 | APOB | c.7299C>G (p.His2433Gln) c.5869+1164C>G (n.5869+1164C>G) | |
2 | g.21009569G= | CA2493476291 | APOB | c.7299C= (p.His2433=) c.5869+1164C= (n.5869+1164C=) | |
2 | g.21009569G>T | CA345997457 | APOB | c.7299C>A (p.His2433Gln) c.5869+1164C>A (n.5869+1164C>A) | |
2 | g.21009569_21009570delinsGT | CA2493476292 | APOB | c.7298_7299delinsAC (p.His2433=) c.5869+1163_5869+1164delinsAC (n.5869+1163_5869+1164delinsAC) | |
2 | g.21009570del | CA064295 | APOB | c.7298del (p.His2433ProfsTer4) c.5869+1163del (n.5869+1163del) | dbSNP ExAC gnomAD v2 |
2 | g.21009570T>A | CA064294 | APOB | c.7298A>T (p.His2433Leu) c.5869+1163A>T (n.5869+1163A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009570T>C | CA345997459 | APOB | c.7298A>G (p.His2433Arg) c.5869+1163A>G (n.5869+1163A>G) | |
2 | g.21009570T>G | CA345997458 | APOB | c.7298A>C (p.His2433Pro) c.5869+1163A>C (n.5869+1163A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009570T= | CA2493476293 | APOB | c.7298A= (p.His2433=) c.5869+1163A= (n.5869+1163A=) | |
2 | g.21009571G>A | CA064289 | APOB | c.7297C>T (p.His2433Tyr) c.5869+1162C>T (n.5869+1162C>T) | dbSNP ExAC gnomAD v2 |
2 | g.21009571G>C | CA345997460 | APOB | c.7297C>G (p.His2433Asp) c.5869+1162C>G (n.5869+1162C>G) | |
2 | g.21009571G= | CA2493476294 | APOB | c.7297C= (p.His2433=) c.5869+1162C= (n.5869+1162C=) | |
2 | g.21009571G>T | CA345997461 | APOB | c.7297C>A (p.His2433Asn) c.5869+1162C>A (n.5869+1162C>A) | |
2 | g.21009572G>A | CA425345224 | APOB | c.7296C>T (p.Tyr2432=) c.5869+1161C>T (n.5869+1161C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21009572G>C | CA345997462 | APOB | c.7296C>G (p.Tyr2432Ter) c.5869+1161C>G (n.5869+1161C>G) | |
2 | g.21009572G= | CA2493476295 | APOB | c.7296C= (p.Tyr2432=) c.5869+1161C= (n.5869+1161C=) | |
2 | g.21009572G>T | CA345997463 | APOB | c.7296C>A (p.Tyr2432Ter) c.5869+1161C>A (n.5869+1161C>A) | COSMIC |
2 | g.21009573T>A | CA345997466 | APOB | c.7295A>T (p.Tyr2432Phe) c.5869+1160A>T (n.5869+1160A>T) | |
2 | g.21009573T>C | CA345997464 | APOB | c.7295A>G (p.Tyr2432Cys) c.5869+1160A>G (n.5869+1160A>G) | gnomAD v4 COSMIC |
2 | g.21009573T>G | CA345997465 | APOB | c.7295A>C (p.Tyr2432Ser) c.5869+1160A>C (n.5869+1160A>C) | |
2 | g.21009574A>C | CA345997467 | APOB | c.7294T>G (p.Tyr2432Asp) c.5869+1159T>G (n.5869+1159T>G) | |
2 | g.21009574A>G | CA345997468 | APOB | c.7294T>C (p.Tyr2432His) c.5869+1159T>C (n.5869+1159T>C) | |
2 | g.21009574A>T | CA345997469 | APOB | c.7294T>A (p.Tyr2432Asn) c.5869+1159T>A (n.5869+1159T>A) | |
2 | g.21009575A= | CA2493476296 | APOB | c.7293T= (p.Asp2431=) c.5869+1158T= (n.5869+1158T=) | |
2 | g.21009575A>C | CA345997470 | APOB | c.7293T>G (p.Asp2431Glu) c.5869+1158T>G (n.5869+1158T>G) | |
2 | g.21009575A>G | CA425345230 | APOB | c.7293T>C (p.Asp2431=) c.5869+1158T>C (n.5869+1158T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009575A>T | CA345997471 | APOB | c.7293T>A (p.Asp2431Glu) c.5869+1158T>A (n.5869+1158T>A) | |
2 | g.21009576T>A | CA345997472 | APOB | c.7292A>T (p.Asp2431Val) c.5869+1157A>T (n.5869+1157A>T) | |
2 | g.21009576T>C | CA345997473 | APOB | c.7292A>G (p.Asp2431Gly) c.5869+1157A>G (n.5869+1157A>G) | COSMIC |
2 | g.21009576T>G | CA345997474 | APOB | c.7292A>C (p.Asp2431Ala) c.5869+1157A>C (n.5869+1157A>C) | |
2 | g.21009577C>A | CA345997475 | APOB | c.7291G>T (p.Asp2431Tyr) c.5869+1156G>T (n.5869+1156G>T) | dbSNP gnomAD v4 |
2 | g.21009577C= | CA2493476297 | APOB | c.7291G= (p.Asp2431=) c.5869+1156G= (n.5869+1156G=) | |
2 | g.21009577C>G | CA345997476 | APOB | c.7291G>C (p.Asp2431His) c.5869+1156G>C (n.5869+1156G>C) | |
2 | g.21009577C>T | CA345997477 | APOB | c.7291G>A (p.Asp2431Asn) c.5869+1156G>A (n.5869+1156G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009578A= | CA2493476298 | APOB | c.7290T= (p.Phe2430=) c.5869+1155T= (n.5869+1155T=) | |
2 | g.21009578A>C | CA345997478 | APOB | c.7290T>G (p.Phe2430Leu) c.5869+1155T>G (n.5869+1155T>G) | |
2 | g.21009578A>G | CA425345234 | APOB | c.7290T>C (p.Phe2430=) c.5869+1155T>C (n.5869+1155T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009578A>T | CA345997479 | APOB | c.7290T>A (p.Phe2430Leu) c.5869+1155T>A (n.5869+1155T>A) | |
2 | g.21009579A= | CA2493476299 | APOB | c.7289T= (p.Phe2430=) c.5869+1154T= (n.5869+1154T=) | |
2 | g.21009579A>C | CA345997482 | APOB | c.7289T>G (p.Phe2430Cys) c.5869+1154T>G (n.5869+1154T>G) | |
2 | g.21009579A>G | CA345997480 | APOB | c.7289T>C (p.Phe2430Ser) c.5869+1154T>C (n.5869+1154T>C) | |
2 | g.21009579A>T | CA345997481 | APOB | c.7289T>A (p.Phe2430Tyr) c.5869+1154T>A (n.5869+1154T>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009580A= | CA2493476300 | APOB | c.7288T= (p.Phe2430=) c.5869+1153T= (n.5869+1153T=) | |
2 | g.21009580A>C | CA345997483 | APOB | c.7288T>G (p.Phe2430Val) c.5869+1153T>G (n.5869+1153T>G) | dbSNP |
2 | g.21009580A>G | CA345997484 | APOB | c.7288T>C (p.Phe2430Leu) c.5869+1153T>C (n.5869+1153T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009580A>T | CA345997485 | APOB | c.7288T>A (p.Phe2430Ile) c.5869+1153T>A (n.5869+1153T>A) | |
2 | g.21009581T>A | CA425345240 | APOB | c.7287A>T (p.Ser2429=) c.5869+1152A>T (n.5869+1152A>T) | |
2 | g.21009581T>C | CA425345239 | APOB | c.7287A>G (p.Ser2429=) c.5869+1152A>G (n.5869+1152A>G) | gnomAD v4 |
2 | g.21009581T>G | CA425345238 | APOB | c.7287A>C (p.Ser2429=) c.5869+1152A>C (n.5869+1152A>C) | |
2 | g.21009582G>A | CA064274 | APOB | c.7286C>T (p.Ser2429Leu) c.5869+1151C>T (n.5869+1151C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009582G>C | CA345997486 | APOB | c.7286C>G (p.Ser2429Ter) c.5869+1151C>G (n.5869+1151C>G) | |
2 | g.21009582G= | CA2493476301 | APOB | c.7286C= (p.Ser2429=) c.5869+1151C= (n.5869+1151C=) | |
2 | g.21009582G>T | CA345997487 | APOB | c.7286C>A (p.Ser2429Ter) c.5869+1151C>A (n.5869+1151C>A) | COSMIC |
2 | g.21009583A= | CA2493476302 | APOB | c.7285T= (p.Ser2429=) c.5869+1150T= (n.5869+1150T=) | |
2 | g.21009583A>C | CA43502841 | APOB | c.7285T>G (p.Ser2429Ala) c.5869+1150T>G (n.5869+1150T>G) | dbSNP |
2 | g.21009583A>G | CA345997488 | APOB | c.7285T>C (p.Ser2429Pro) c.5869+1150T>C (n.5869+1150T>C) | |
2 | g.21009583A>T | CA064271 | APOB | c.7285T>A (p.Ser2429Thr) c.5869+1150T>A (n.5869+1150T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009584C>A | CA345997489 | APOB | c.7284G>T (p.Lys2428Asn) c.5869+1149G>T (n.5869+1149G>T) | gnomAD v4 |
2 | g.21009584C= | CA2493476303 | APOB | c.7284G= (p.Lys2428=) c.5869+1149G= (n.5869+1149G=) | |
2 | g.21009584C>G | CA345997490 | APOB | c.7284G>C (p.Lys2428Asn) c.5869+1149G>C (n.5869+1149G>C) | |
2 | g.21009584C>T | CA425345245 | APOB | c.7284G>A (p.Lys2428=) c.5869+1149G>A (n.5869+1149G>A) | dbSNP |
2 | g.21009585T>A | CA345997491 | APOB | c.7283A>T (p.Lys2428Met) c.5869+1148A>T (n.5869+1148A>T) | |
2 | g.21009585T>C | CA345997492 | APOB | c.7283A>G (p.Lys2428Arg) c.5869+1148A>G (n.5869+1148A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009585T>G | CA345997493 | APOB | c.7283A>C (p.Lys2428Thr) c.5869+1148A>C (n.5869+1148A>C) | |
2 | g.21009585T= | CA2493476304 | APOB | c.7283A= (p.Lys2428=) c.5869+1148A= (n.5869+1148A=) | |
2 | g.21009587dup | CA2658056031 | APOB | c.7283dup (p.Ser2429ValfsTer3) c.5869+1148dup (n.5869+1148dup) | gnomAD v4 |
2 | g.21009586T>A | CA345997496 | APOB | c.7282A>T (p.Lys2428Ter) c.5869+1147A>T (n.5869+1147A>T) | |
2 | g.21009586T>C | CA345997494 | APOB | c.7282A>G (p.Lys2428Glu) c.5869+1147A>G (n.5869+1147A>G) | |
2 | g.21009586T>G | CA345997495 | APOB | c.7282A>C (p.Lys2428Gln) c.5869+1147A>C (n.5869+1147A>C) | |
2 | g.21009587T>A | CA345997497 | APOB | c.7281A>T (p.Leu2427Phe) c.5869+1146A>T (n.5869+1146A>T) | |
2 | g.21009587T>C | CA425345247 | APOB | c.7281A>G (p.Leu2427=) c.5869+1146A>G (n.5869+1146A>G) | |
2 | g.21009587T>G | CA345997498 | APOB | c.7281A>C (p.Leu2427Phe) c.5869+1146A>C (n.5869+1146A>C) | |
2 | g.21009588A= | CA2493476305 | APOB | c.7280T= (p.Leu2427=) c.5869+1145T= (n.5869+1145T=) | |
2 | g.21009588A>C | CA345997499 | APOB | c.7280T>G (p.Leu2427Ter) c.5869+1145T>G (n.5869+1145T>G) | |
2 | g.21009588A>G | CA345997500 | APOB | c.7280T>C (p.Leu2427Ser) c.5869+1145T>C (n.5869+1145T>C) | dbSNP gnomAD v2 |
2 | g.21009588A>T | CA345997501 | APOB | c.7280T>A (p.Leu2427Ter) c.5869+1145T>A (n.5869+1145T>A) | |
2 | g.21009589A>C | CA345997502 | APOB | c.7279T>G (p.Leu2427Val) c.5869+1144T>G (n.5869+1144T>G) | |
2 | g.21009589A>G | CA425345248 | APOB | c.7279T>C (p.Leu2427=) c.5869+1144T>C (n.5869+1144T>C) | |
2 | g.21009589A>T | CA345997503 | APOB | c.7279T>A (p.Leu2427Ile) c.5869+1144T>A (n.5869+1144T>A) | |
2 | g.21009590T>A | CA345997504 | APOB | c.7278A>T (p.Lys2426Asn) c.5869+1143A>T (n.5869+1143A>T) | |
2 | g.21009590T>C | CA425345252 | APOB | c.7278A>G (p.Lys2426=) c.5869+1143A>G (n.5869+1143A>G) | ClinVar |
2 | g.21009590T>G | CA345997505 | APOB | c.7278A>C (p.Lys2426Asn) c.5869+1143A>C (n.5869+1143A>C) | |
2 | g.21009591T>A | CA345997506 | APOB | c.7277A>T (p.Lys2426Ile) c.5869+1142A>T (n.5869+1142A>T) | |
2 | g.21009591T>C | CA345997507 | APOB | c.7277A>G (p.Lys2426Arg) c.5869+1142A>G (n.5869+1142A>G) | |
2 | g.21009591T>G | CA345997508 | APOB | c.7277A>C (p.Lys2426Thr) c.5869+1142A>C (n.5869+1142A>C) | |
2 | g.21009592T>A | CA345997509 | APOB | c.7276A>T (p.Lys2426Ter) c.5869+1141A>T (n.5869+1141A>T) | |
2 | g.21009592T>C | CA345997511 | APOB | c.7276A>G (p.Lys2426Glu) c.5869+1141A>G (n.5869+1141A>G) | |
2 | g.21009592T>G | CA345997510 | APOB | c.7276A>C (p.Lys2426Gln) c.5869+1141A>C (n.5869+1141A>C) | |
2 | g.21009593C>A | CA064266 | APOB | c.7275G>T (p.Lys2425Asn) c.5869+1140G>T (n.5869+1140G>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.21009593C= | CA2493476306 | APOB | c.7275G= (p.Lys2425=) c.5869+1140G= (n.5869+1140G=) | |
2 | g.21009593C>G | CA345997512 | APOB | c.7275G>C (p.Lys2425Asn) c.5869+1140G>C (n.5869+1140G>C) | |
2 | g.21009593C>T | CA425345257 | APOB | c.7275G>A (p.Lys2425=) c.5869+1140G>A (n.5869+1140G>A) | dbSNP |
2 | g.21009594T>A | CA345997513 | APOB | c.7274A>T (p.Lys2425Met) c.5869+1139A>T (n.5869+1139A>T) | |
2 | g.21009594T>C | CA43502858 | APOB | c.7274A>G (p.Lys2425Arg) c.5869+1139A>G (n.5869+1139A>G) | dbSNP |
2 | g.21009594T>G | CA345997514 | APOB | c.7274A>C (p.Lys2425Thr) c.5869+1139A>C (n.5869+1139A>C) | |
2 | g.21009594T= | CA2493476307 | APOB | c.7274A= (p.Lys2425=) c.5869+1139A= (n.5869+1139A=) | |
2 | g.21009595T>A | CA345997515 | APOB | c.7273A>T (p.Lys2425Ter) c.5869+1138A>T (n.5869+1138A>T) | |
2 | g.21009595T>C | CA345997516 | APOB | c.7273A>G (p.Lys2425Glu) c.5869+1138A>G (n.5869+1138A>G) | |
2 | g.21009595T>G | CA345997517 | APOB | c.7273A>C (p.Lys2425Gln) c.5869+1138A>C (n.5869+1138A>C) | |
2 | g.21009596T>A | CA425345262 | APOB | c.7272A>T (p.Ile2424=) c.5869+1137A>T (n.5869+1137A>T) | |
2 | g.21009596T>C | CA345997518 | APOB | c.7272A>G (p.Ile2424Met) c.5869+1137A>G (n.5869+1137A>G) | |
2 | g.21009596T>G | CA425345266 | APOB | c.7272A>C (p.Ile2424=) c.5869+1137A>C (n.5869+1137A>C) | |
2 | g.21009597A>C | CA345997519 | APOB | c.7271T>G (p.Ile2424Arg) c.5869+1136T>G (n.5869+1136T>G) | |
2 | g.21009597A>G | CA345997520 | APOB | c.7271T>C (p.Ile2424Thr) c.5869+1136T>C (n.5869+1136T>C) | |
2 | g.21009597A>T | CA345997521 | APOB | c.7271T>A (p.Ile2424Lys) c.5869+1136T>A (n.5869+1136T>A) | |
2 | g.21009598T>A | CA345997522 | APOB | c.7270A>T (p.Ile2424Leu) c.5869+1135A>T (n.5869+1135A>T) | |
2 | g.21009598T>C | CA345997523 | APOB | c.7270A>G (p.Ile2424Val) c.5869+1135A>G (n.5869+1135A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009598T>G | CA345997524 | APOB | c.7270A>C (p.Ile2424Leu) c.5869+1135A>C (n.5869+1135A>C) | |
2 | g.21009598T= | CA2493476308 | APOB | c.7270A= (p.Ile2424=) c.5869+1135A= (n.5869+1135A=) | |
2 | g.21009599C>A | CA345997525 | APOB | c.7269G>T (p.Leu2423Phe) c.5869+1134G>T (n.5869+1134G>T) | |
2 | g.21009599C>G | CA345997526 | APOB | c.7269G>C (p.Leu2423Phe) c.5869+1134G>C (n.5869+1134G>C) | |
2 | g.21009599C>T | CA425345269 | APOB | c.7269G>A (p.Leu2423=) c.5869+1134G>A (n.5869+1134G>A) | |
2 | g.21009600A>C | CA345997527 | APOB | c.7268T>G (p.Leu2423Trp) c.5869+1133T>G (n.5869+1133T>G) | |
2 | g.21009600A>G | CA345997528 | APOB | c.7268T>C (p.Leu2423Ser) c.5869+1133T>C (n.5869+1133T>C) | |
2 | g.21009600A>T | CA345997529 | APOB | c.7268T>A (p.Leu2423Ter) c.5869+1133T>A (n.5869+1133T>A) | |
2 | g.21009601A>C | CA345997530 | APOB | c.7267T>G (p.Leu2423Val) c.5869+1132T>G (n.5869+1132T>G) | |
2 | g.21009601A>G | CA425345271 | APOB | c.7267T>C (p.Leu2423=) c.5869+1132T>C (n.5869+1132T>C) | |
2 | g.21009601A>T | CA345997531 | APOB | c.7267T>A (p.Leu2423Met) c.5869+1132T>A (n.5869+1132T>A) | gnomAD v4 |