Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15180151T>A | CA404513378 | NOTCH3 | c.3248A>T (p.Gln1083Leu) c.3089A>T (p.Gln1030Leu) c.3092A>T (p.Gln1031Leu) | |
19 | g.15180151T>C | CA9263150 | NOTCH3 | c.3248A>G (p.Gln1083Arg) c.3089A>G (p.Gln1030Arg) c.3092A>G (p.Gln1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180151T>G | CA404513374 | NOTCH3 | c.3248A>C (p.Gln1083Pro) c.3089A>C (p.Gln1030Pro) c.3092A>C (p.Gln1031Pro) | |
19 | g.15180151T= | CA2324744262 | NOTCH3 | c.3248A= (p.Gln1083=) c.3089A= (p.Gln1030=) c.3092A= (p.Gln1031=) | |
19 | g.15180152G>A | CA404513381 | NOTCH3 | c.3247C>T (p.Gln1083Ter) c.3088C>T (p.Gln1030Ter) c.3091C>T (p.Gln1031Ter) | dbSNP COSMIC COSMIC |
19 | g.15180152G>C | CA404513393 | NOTCH3 | c.3247C>G (p.Gln1083Glu) c.3088C>G (p.Gln1030Glu) c.3091C>G (p.Gln1031Glu) | |
19 | g.15180152G>T | CA404513394 | NOTCH3 | c.3247C>A (p.Gln1083Lys) c.3088C>A (p.Gln1030Lys) c.3091C>A (p.Gln1031Lys) | |
19 | g.15180153C>A | CA404513398 | NOTCH3 | c.3246G>T (p.Glu1082Asp) c.3087G>T (p.Glu1029Asp) c.3090G>T (p.Glu1030Asp) | |
19 | g.15180153C= | CA2324744263 | NOTCH3 | c.3246G= (p.Glu1082=) c.3087G= (p.Glu1029=) c.3090G= (p.Glu1030=) | |
19 | g.15180153C>G | CA404513399 | NOTCH3 | c.3246G>C (p.Glu1082Asp) c.3087G>C (p.Glu1029Asp) c.3090G>C (p.Glu1030Asp) | |
19 | g.15180153C>T | CA9263151 | NOTCH3 | c.3246G>A (p.Glu1082=) c.3087G>A (p.Glu1029=) c.3090G>A (p.Glu1030=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180154T>A | CA404513400 | NOTCH3 | c.3245A>T (p.Glu1082Val) c.3086A>T (p.Glu1029Val) c.3089A>T (p.Glu1030Val) | dbSNP |
19 | g.15180154T>C | CA404513404 | NOTCH3 | c.3245A>G (p.Glu1082Gly) c.3086A>G (p.Glu1029Gly) c.3089A>G (p.Glu1030Gly) | dbSNP |
19 | g.15180154T>G | CA404513406 | NOTCH3 | c.3245A>C (p.Glu1082Ala) c.3086A>C (p.Glu1029Ala) c.3089A>C (p.Glu1030Ala) | |
19 | g.15180155C>A | CA404513409 | NOTCH3 | c.3244G>T (p.Glu1082Ter) c.3085G>T (p.Glu1029Ter) c.3088G>T (p.Glu1030Ter) | |
19 | g.15180155C>G | CA404513410 | NOTCH3 | c.3244G>C (p.Glu1082Gln) c.3085G>C (p.Glu1029Gln) c.3088G>C (p.Glu1030Gln) | |
19 | g.15180155C>T | CA404513413 | NOTCH3 | c.3244G>A (p.Glu1082Lys) c.3085G>A (p.Glu1029Lys) c.3088G>A (p.Glu1030Lys) | gnomAD v4 |
19 | g.15180156A>C | CA404513426 | NOTCH3 | c.3243T>G (p.Cys1081Trp) c.3084T>G (p.Cys1028Trp) c.3087T>G (p.Cys1029Trp) | |
19 | g.15180156A>G | CA505824318 | NOTCH3 | c.3243T>C (p.Cys1081=) c.3084T>C (p.Cys1028=) c.3087T>C (p.Cys1029=) | |
19 | g.15180156A>T | CA404513416 | NOTCH3 | c.3243T>A (p.Cys1081Ter) c.3084T>A (p.Cys1028Ter) c.3087T>A (p.Cys1029Ter) | |
19 | g.15180157C>A | CA404513429 | NOTCH3 | c.3242G>T (p.Cys1081Phe) c.3083G>T (p.Cys1028Phe) c.3086G>T (p.Cys1029Phe) | |
19 | g.15180157C>G | CA404513431 | NOTCH3 | c.3242G>C (p.Cys1081Ser) c.3083G>C (p.Cys1028Ser) c.3086G>C (p.Cys1029Ser) | dbSNP |
19 | g.15180157C>T | CA404513434 | NOTCH3 | c.3242G>A (p.Cys1081Tyr) c.3083G>A (p.Cys1028Tyr) c.3086G>A (p.Cys1029Tyr) | |
19 | g.15180158A= | CA2324744264 | NOTCH3 | c.3241T= (p.Cys1081=) c.3082T= (p.Cys1028=) c.3085T= (p.Cys1029=) | |
19 | g.15180158A>C | CA404513445 | NOTCH3 | c.3241T>G (p.Cys1081Gly) c.3082T>G (p.Cys1028Gly) c.3085T>G (p.Cys1029Gly) | |
19 | g.15180158A>G | CA404513447 | NOTCH3 | c.3241T>C (p.Cys1081Arg) c.3082T>C (p.Cys1028Arg) c.3085T>C (p.Cys1029Arg) | ClinVar dbSNP |
19 | g.15180158A>T | CA404513449 | NOTCH3 | c.3241T>A (p.Cys1081Ser) c.3082T>A (p.Cys1028Ser) c.3085T>A (p.Cys1029Ser) | |
19 | g.15180159G>A | CA505824325 | NOTCH3 | c.3240C>T (p.His1080=) c.3081C>T (p.His1027=) c.3084C>T (p.His1028=) | |
19 | g.15180159G>C | CA404513452 | NOTCH3 | c.3240C>G (p.His1080Gln) c.3081C>G (p.His1027Gln) c.3084C>G (p.His1028Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180159G= | CA2324744265 | NOTCH3 | c.3240C= (p.His1080=) c.3081C= (p.His1027=) c.3084C= (p.His1028=) | |
19 | g.15180159G>T | CA404513455 | NOTCH3 | c.3240C>A (p.His1080Gln) c.3081C>A (p.His1027Gln) c.3084C>A (p.His1028Gln) | |
19 | g.15180160T>A | CA404513456 | NOTCH3 | c.3239A>T (p.His1080Leu) c.3080A>T (p.His1027Leu) c.3083A>T (p.His1028Leu) | |
19 | g.15180160T>C | CA404513457 | NOTCH3 | c.3239A>G (p.His1080Arg) c.3080A>G (p.His1027Arg) c.3083A>G (p.His1028Arg) | |
19 | g.15180160T>G | CA404513459 | NOTCH3 | c.3239A>C (p.His1080Pro) c.3080A>C (p.His1027Pro) c.3083A>C (p.His1028Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180160T= | CA2324744266 | NOTCH3 | c.3239A= (p.His1080=) c.3080A= (p.His1027=) c.3083A= (p.His1028=) | |
19 | g.15180161G>A | CA404513461 | NOTCH3 | c.3238C>T (p.His1080Tyr) c.3079C>T (p.His1027Tyr) c.3082C>T (p.His1028Tyr) | |
19 | g.15180161G>C | CA404513462 | NOTCH3 | c.3238C>G (p.His1080Asp) c.3079C>G (p.His1027Asp) c.3082C>G (p.His1028Asp) | gnomAD v4 |
19 | g.15180161G>T | CA404513464 | NOTCH3 | c.3238C>A (p.His1080Asn) c.3079C>A (p.His1027Asn) c.3082C>A (p.His1028Asn) | |
19 | g.15180162G>A | CA505824332 | NOTCH3 | c.3237C>T (p.Ser1079=) c.3078C>T (p.Ser1026=) c.3081C>T (p.Ser1027=) | |
19 | g.15180162G>C | CA404513470 | NOTCH3 | c.3237C>G (p.Ser1079Arg) c.3078C>G (p.Ser1026Arg) c.3081C>G (p.Ser1027Arg) | dbSNP |
19 | g.15180162G>T | CA404513469 | NOTCH3 | c.3237C>A (p.Ser1079Arg) c.3078C>A (p.Ser1026Arg) c.3081C>A (p.Ser1027Arg) | |
19 | g.15180163C>A | CA404513471 | NOTCH3 | c.3236G>T (p.Ser1079Ile) c.3077G>T (p.Ser1026Ile) c.3080G>T (p.Ser1027Ile) | dbSNP |
19 | g.15180163C= | CA2324744267 | NOTCH3 | c.3236G= (p.Ser1079=) c.3077G= (p.Ser1026=) c.3080G= (p.Ser1027=) | |
19 | g.15180163C>G | CA404513472 | NOTCH3 | c.3236G>C (p.Ser1079Thr) c.3077G>C (p.Ser1026Thr) c.3080G>C (p.Ser1027Thr) | |
19 | g.15180163C>T | CA9263152 | NOTCH3 | c.3236G>A (p.Ser1079Asn) c.3077G>A (p.Ser1026Asn) c.3080G>A (p.Ser1027Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180164T>A | CA404513476 | NOTCH3 | c.3235A>T (p.Ser1079Cys) c.3076A>T (p.Ser1026Cys) c.3079A>T (p.Ser1027Cys) | |
19 | g.15180164T>C | CA404513478 | NOTCH3 | c.3235A>G (p.Ser1079Gly) c.3076A>G (p.Ser1026Gly) c.3079A>G (p.Ser1027Gly) | |
19 | g.15180164T>G | CA404513484 | NOTCH3 | c.3235A>C (p.Ser1079Arg) c.3076A>C (p.Ser1026Arg) c.3079A>C (p.Ser1027Arg) | |
19 | g.15180165A>C | CA505824335 | NOTCH3 | c.3234T>G (p.Gly1078=) c.3075T>G (p.Gly1025=) c.3078T>G (p.Gly1026=) | |
19 | g.15180165A>G | CA505824336 | NOTCH3 | c.3234T>C (p.Gly1078=) c.3075T>C (p.Gly1025=) c.3078T>C (p.Gly1026=) | |
19 | g.15180165A>T | CA505824337 | NOTCH3 | c.3234T>A (p.Gly1078=) c.3075T>A (p.Gly1025=) c.3078T>A (p.Gly1026=) | |
19 | g.15180166C>A | CA404513505 | NOTCH3 | c.3233G>T (p.Gly1078Val) c.3074G>T (p.Gly1025Val) c.3077G>T (p.Gly1026Val) | |
19 | g.15180166C>G | CA404513488 | NOTCH3 | c.3233G>C (p.Gly1078Ala) c.3074G>C (p.Gly1025Ala) c.3077G>C (p.Gly1026Ala) | |
19 | g.15180166C>T | CA404513491 | NOTCH3 | c.3233G>A (p.Gly1078Asp) c.3074G>A (p.Gly1025Asp) c.3077G>A (p.Gly1026Asp) | gnomAD v4 |
19 | g.15180167C>A | CA404513507 | NOTCH3 | c.3232G>T (p.Gly1078Cys) c.3073G>T (p.Gly1025Cys) c.3076G>T (p.Gly1026Cys) | |
19 | g.15180167C>G | CA404513510 | NOTCH3 | c.3232G>C (p.Gly1078Arg) c.3073G>C (p.Gly1025Arg) c.3076G>C (p.Gly1026Arg) | |
19 | g.15180167C>T | CA404513513 | NOTCH3 | c.3232G>A (p.Gly1078Ser) c.3073G>A (p.Gly1025Ser) c.3076G>A (p.Gly1026Ser) | |
19 | g.15180168A= | CA2324744268 | NOTCH3 | c.3231T= (p.Thr1077=) c.3072T= (p.Thr1024=) c.3075T= (p.Thr1025=) | |
19 | g.15180168A>C | CA505824338 | NOTCH3 | c.3231T>G (p.Thr1077=) c.3072T>G (p.Thr1024=) c.3075T>G (p.Thr1025=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180168A>G | CA505824339 | NOTCH3 | c.3231T>C (p.Thr1077=) c.3072T>C (p.Thr1024=) c.3075T>C (p.Thr1025=) | |
19 | g.15180168A>T | CA505824340 | NOTCH3 | c.3231T>A (p.Thr1077=) c.3072T>A (p.Thr1024=) c.3075T>A (p.Thr1025=) | |
19 | g.15180169G>A | CA305769993 | NOTCH3 | c.3230C>T (p.Thr1077Ile) c.3071C>T (p.Thr1024Ile) c.3074C>T (p.Thr1025Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180169G>C | CA404513519 | NOTCH3 | c.3230C>G (p.Thr1077Ser) c.3071C>G (p.Thr1024Ser) c.3074C>G (p.Thr1025Ser) | |
19 | g.15180169G= | CA2324744269 | NOTCH3 | c.3230C= (p.Thr1077=) c.3071C= (p.Thr1024=) c.3074C= (p.Thr1025=) | |
19 | g.15180169G>T | CA404513521 | NOTCH3 | c.3230C>A (p.Thr1077Asn) c.3071C>A (p.Thr1024Asn) c.3074C>A (p.Thr1025Asn) | gnomAD v4 |
19 | g.15180170T>A | CA404513526 | NOTCH3 | c.3229A>T (p.Thr1077Ser) c.3070A>T (p.Thr1024Ser) c.3073A>T (p.Thr1025Ser) | |
19 | g.15180170T>C | CA404513533 | NOTCH3 | c.3229A>G (p.Thr1077Ala) c.3070A>G (p.Thr1024Ala) c.3073A>G (p.Thr1025Ala) | gnomAD v4 |
19 | g.15180170T>G | CA404513523 | NOTCH3 | c.3229A>C (p.Thr1077Pro) c.3070A>C (p.Thr1024Pro) c.3073A>C (p.Thr1025Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180170T= | CA2324744270 | NOTCH3 | c.3229A= (p.Thr1077=) c.3070A= (p.Thr1024=) c.3073A= (p.Thr1025=) | |
19 | g.15180171A>C | CA505824341 | NOTCH3 | c.3228T>G (p.Arg1076=) c.3069T>G (p.Arg1023=) c.3072T>G (p.Arg1024=) | |
19 | g.15180171A>G | CA505824342 | NOTCH3 | c.3228T>C (p.Arg1076=) c.3069T>C (p.Arg1023=) c.3072T>C (p.Arg1024=) | |
19 | g.15180171A>T | CA505824343 | NOTCH3 | c.3228T>A (p.Arg1076=) c.3069T>A (p.Arg1023=) c.3072T>A (p.Arg1024=) | |
19 | g.15180172C>A | CA404513542 | NOTCH3 | c.3227G>T (p.Arg1076Leu) c.3068G>T (p.Arg1023Leu) c.3071G>T (p.Arg1024Leu) | |
19 | g.15180172C= | CA2324744271 | NOTCH3 | c.3227G= (p.Arg1076=) c.3068G= (p.Arg1023=) c.3071G= (p.Arg1024=) | |
19 | g.15180172C>G | CA404513538 | NOTCH3 | c.3227G>C (p.Arg1076Pro) c.3068G>C (p.Arg1023Pro) c.3071G>C (p.Arg1024Pro) | |
19 | g.15180172C>T | CA9263153 | NOTCH3 | c.3227G>A (p.Arg1076His) c.3068G>A (p.Arg1023His) c.3071G>A (p.Arg1024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>A | CA404513546 | NOTCH3 | c.3226C>T (p.Arg1076Cys) c.3067C>T (p.Arg1023Cys) c.3070C>T (p.Arg1024Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>C | CA404513549 | NOTCH3 | c.3226C>G (p.Arg1076Gly) c.3067C>G (p.Arg1023Gly) c.3070C>G (p.Arg1024Gly) | |
19 | g.15180173G= | CA2324744272 | NOTCH3 | c.3226C= (p.Arg1076=) c.3067C= (p.Arg1023=) c.3070C= (p.Arg1024=) | |
19 | g.15180173G>T | CA404513550 | NOTCH3 | c.3226C>A (p.Arg1076Ser) c.3067C>A (p.Arg1023Ser) c.3070C>A (p.Arg1024Ser) | |
19 | g.15180174G>A | CA505824344 | NOTCH3 | c.3225C>T (p.Gly1075=) c.3066C>T (p.Gly1022=) c.3069C>T (p.Gly1023=) | dbSNP |
19 | g.15180174G>C | CA505824345 | NOTCH3 | c.3225C>G (p.Gly1075=) c.3066C>G (p.Gly1022=) c.3069C>G (p.Gly1023=) | gnomAD v4 |
19 | g.15180174G>T | CA505824346 | NOTCH3 | c.3225C>A (p.Gly1075=) c.3066C>A (p.Gly1022=) c.3069C>A (p.Gly1023=) | |
19 | g.15180175C>A | CA404513561 | NOTCH3 | c.3224G>T (p.Gly1075Val) c.3065G>T (p.Gly1022Val) c.3068G>T (p.Gly1023Val) | dbSNP |
19 | g.15180175C>G | CA404513564 | NOTCH3 | c.3224G>C (p.Gly1075Ala) c.3065G>C (p.Gly1022Ala) c.3068G>C (p.Gly1023Ala) | |
19 | g.15180175C>T | CA404513566 | NOTCH3 | c.3224G>A (p.Gly1075Asp) c.3065G>A (p.Gly1022Asp) c.3068G>A (p.Gly1023Asp) | |
19 | g.15180176C>A | CA404513571 | NOTCH3 | c.3223G>T (p.Gly1075Cys) c.3064G>T (p.Gly1022Cys) c.3067G>T (p.Gly1023Cys) | dbSNP |
19 | g.15180176C= | CA2324744273 | NOTCH3 | c.3223G= (p.Gly1075=) c.3064G= (p.Gly1022=) c.3067G= (p.Gly1023=) | |
19 | g.15180176C>G | CA404513575 | NOTCH3 | c.3223G>C (p.Gly1075Arg) c.3064G>C (p.Gly1022Arg) c.3067G>C (p.Gly1023Arg) | |
19 | g.15180176C>T | CA305770005 | NOTCH3 | c.3223G>A (p.Gly1075Ser) c.3064G>A (p.Gly1022Ser) c.3067G>A (p.Gly1023Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180177C>A | CA404513580 | NOTCH3 | c.3222G>T (p.Glu1074Asp) c.3063G>T (p.Glu1021Asp) c.3066G>T (p.Glu1022Asp) | |
19 | g.15180177C>G | CA404513584 | NOTCH3 | c.3222G>C (p.Glu1074Asp) c.3063G>C (p.Glu1021Asp) c.3066G>C (p.Glu1022Asp) | |
19 | g.15180177C>T | CA505824347 | NOTCH3 | c.3222G>A (p.Glu1074=) c.3063G>A (p.Glu1021=) c.3066G>A (p.Glu1022=) | |
19 | g.15180178T>A | CA404513591 | NOTCH3 | c.3221A>T (p.Glu1074Val) c.3062A>T (p.Glu1021Val) c.3065A>T (p.Glu1022Val) | |
19 | g.15180178T>C | CA404513588 | NOTCH3 | c.3221A>G (p.Glu1074Gly) c.3062A>G (p.Glu1021Gly) c.3065A>G (p.Glu1022Gly) | dbSNP |
19 | g.15180178T>G | CA404513586 | NOTCH3 | c.3221A>C (p.Glu1074Ala) c.3062A>C (p.Glu1021Ala) c.3065A>C (p.Glu1022Ala) | gnomAD v4 |
19 | g.15180179C>A | CA404513593 | NOTCH3 | c.3220G>T (p.Glu1074Ter) c.3061G>T (p.Glu1021Ter) c.3064G>T (p.Glu1022Ter) | |
19 | g.15180179C>G | CA404513599 | NOTCH3 | c.3220G>C (p.Glu1074Gln) c.3061G>C (p.Glu1021Gln) c.3064G>C (p.Glu1022Gln) | |
19 | g.15180179C>T | CA404513602 | NOTCH3 | c.3220G>A (p.Glu1074Lys) c.3061G>A (p.Glu1021Lys) c.3064G>A (p.Glu1022Lys) | dbSNP |
19 | g.15180180T>A | CA505824348 | NOTCH3 | c.3219A>T (p.Pro1073=) c.3060A>T (p.Pro1020=) c.3063A>T (p.Pro1021=) | |
19 | g.15180180T>C | CA505824349 | NOTCH3 | c.3219A>G (p.Pro1073=) c.3060A>G (p.Pro1020=) c.3063A>G (p.Pro1021=) | |
19 | g.15180180T>G | CA505824350 | NOTCH3 | c.3219A>C (p.Pro1073=) c.3060A>C (p.Pro1020=) c.3063A>C (p.Pro1021=) | COSMIC COSMIC |
19 | g.15180181G>A | CA404513608 | NOTCH3 | c.3218C>T (p.Pro1073Leu) c.3059C>T (p.Pro1020Leu) c.3062C>T (p.Pro1021Leu) | dbSNP |
19 | g.15180181G>C | CA404513611 | NOTCH3 | c.3218C>G (p.Pro1073Arg) c.3059C>G (p.Pro1020Arg) c.3062C>G (p.Pro1021Arg) | |
19 | g.15180181G= | CA2324744274 | NOTCH3 | c.3218C= (p.Pro1073=) c.3059C= (p.Pro1020=) c.3062C= (p.Pro1021=) | |
19 | g.15180181G>T | CA404513614 | NOTCH3 | c.3218C>A (p.Pro1073Gln) c.3059C>A (p.Pro1020Gln) c.3062C>A (p.Pro1021Gln) | |
19 | g.15180182G>A | CA404513624 | NOTCH3 | c.3217C>T (p.Pro1073Ser) c.3058C>T (p.Pro1020Ser) c.3061C>T (p.Pro1021Ser) | |
19 | g.15180182G>C | CA404513630 | NOTCH3 | c.3217C>G (p.Pro1073Ala) c.3058C>G (p.Pro1020Ala) c.3061C>G (p.Pro1021Ala) | |
19 | g.15180182G>T | CA404513631 | NOTCH3 | c.3217C>A (p.Pro1073Thr) c.3058C>A (p.Pro1020Thr) c.3061C>A (p.Pro1021Thr) | |
19 | g.15180183G>A | CA505824351 | NOTCH3 | c.3216C>T (p.Cys1072=) c.3057C>T (p.Cys1019=) c.3060C>T (p.Cys1020=) | dbSNP gnomAD v4 |
19 | g.15180183G>C | CA404513632 | NOTCH3 | c.3216C>G (p.Cys1072Trp) c.3057C>G (p.Cys1019Trp) c.3060C>G (p.Cys1020Trp) | |
19 | g.15180183G= | CA2324744275 | NOTCH3 | c.3216C= (p.Cys1072=) c.3057C= (p.Cys1019=) c.3060C= (p.Cys1020=) | |
19 | g.15180183G>T | CA404513633 | NOTCH3 | c.3216C>A (p.Cys1072Ter) c.3057C>A (p.Cys1019Ter) c.3060C>A (p.Cys1020Ter) | |
19 | g.15180184C>A | CA404513634 | NOTCH3 | c.3215G>T (p.Cys1072Phe) c.3056G>T (p.Cys1019Phe) c.3059G>T (p.Cys1020Phe) | |
19 | g.15180184C= | CA2324744276 | NOTCH3 | c.3215G= (p.Cys1072=) c.3056G= (p.Cys1019=) c.3059G= (p.Cys1020=) | |
19 | g.15180184C>G | CA404513637 | NOTCH3 | c.3215G>C (p.Cys1072Ser) c.3056G>C (p.Cys1019Ser) c.3059G>C (p.Cys1020Ser) | |
19 | g.15180184C>T | CA404513642 | NOTCH3 | c.3215G>A (p.Cys1072Tyr) c.3056G>A (p.Cys1019Tyr) c.3059G>A (p.Cys1020Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180185A>C | CA404513654 | NOTCH3 | c.3214T>G (p.Cys1072Gly) c.3055T>G (p.Cys1019Gly) c.3058T>G (p.Cys1020Gly) | |
19 | g.15180185A>G | CA404513652 | NOTCH3 | c.3214T>C (p.Cys1072Arg) c.3055T>C (p.Cys1019Arg) c.3058T>C (p.Cys1020Arg) | |
19 | g.15180185A>T | CA404513645 | NOTCH3 | c.3214T>A (p.Cys1072Ser) c.3055T>A (p.Cys1019Ser) c.3058T>A (p.Cys1020Ser) | |
19 | g.15180186C>A | CA505824353 | NOTCH3 | c.3213G>T (p.Val1071=) c.3054G>T (p.Val1018=) c.3057G>T (p.Val1019=) | |
19 | g.15180186C>G | CA505824355 | NOTCH3 | c.3213G>C (p.Val1071=) c.3054G>C (p.Val1018=) c.3057G>C (p.Val1019=) | |
19 | g.15180186C>T | CA505824354 | NOTCH3 | c.3213G>A (p.Val1071=) c.3054G>A (p.Val1018=) c.3057G>A (p.Val1019=) | |
19 | g.15180187A= | CA2324744277 | NOTCH3 | c.3212T= (p.Val1071=) c.3053T= (p.Val1018=) c.3056T= (p.Val1019=) | |
19 | g.15180187A>C | CA9263154 | NOTCH3 | c.3212T>G (p.Val1071Gly) c.3053T>G (p.Val1018Gly) c.3056T>G (p.Val1019Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180187A>G | CA404513663 | NOTCH3 | c.3212T>C (p.Val1071Ala) c.3053T>C (p.Val1018Ala) c.3056T>C (p.Val1019Ala) | |
19 | g.15180187A>T | CA404513664 | NOTCH3 | c.3212T>A (p.Val1071Glu) c.3053T>A (p.Val1018Glu) c.3056T>A (p.Val1019Glu) | |
19 | g.15180188C>A | CA404513667 | NOTCH3 | c.3211G>T (p.Val1071Leu) c.3052G>T (p.Val1018Leu) c.3055G>T (p.Val1019Leu) | |
19 | g.15180188C= | CA2324744278 | NOTCH3 | c.3211G= (p.Val1071=) c.3052G= (p.Val1018=) c.3055G= (p.Val1019=) | |
19 | g.15180188C>G | CA9263155 | NOTCH3 | c.3211G>C (p.Val1071Leu) c.3052G>C (p.Val1018Leu) c.3055G>C (p.Val1019Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180188C>T | CA305770013 | NOTCH3 | c.3211G>A (p.Val1071Met) c.3052G>A (p.Val1018Met) c.3055G>A (p.Val1019Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180189G>A | CA9263156 | NOTCH3 | c.3210C>T (p.Cys1070=) c.3051C>T (p.Cys1017=) c.3054C>T (p.Cys1018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180189G>C | CA404513679 | NOTCH3 | c.3210C>G (p.Cys1070Trp) c.3051C>G (p.Cys1017Trp) c.3054C>G (p.Cys1018Trp) | |
19 | g.15180189G= | CA2324744279 | NOTCH3 | c.3210C= (p.Cys1070=) c.3051C= (p.Cys1017=) c.3054C= (p.Cys1018=) | |
19 | g.15180189G>T | CA404513677 | NOTCH3 | c.3210C>A (p.Cys1070Ter) c.3051C>A (p.Cys1017Ter) c.3054C>A (p.Cys1018Ter) | |
19 | g.15180190C>A | CA404513680 | NOTCH3 | c.3209G>T (p.Cys1070Phe) c.3050G>T (p.Cys1017Phe) c.3053G>T (p.Cys1018Phe) | |
19 | g.15180190C>G | CA404513681 | NOTCH3 | c.3209G>C (p.Cys1070Ser) c.3050G>C (p.Cys1017Ser) c.3053G>C (p.Cys1018Ser) | |
19 | g.15180190C>T | CA404513683 | NOTCH3 | c.3209G>A (p.Cys1070Tyr) c.3050G>A (p.Cys1017Tyr) c.3053G>A (p.Cys1018Tyr) | |
19 | g.15180191A>C | CA404513686 | NOTCH3 | c.3208T>G (p.Cys1070Gly) c.3049T>G (p.Cys1017Gly) c.3052T>G (p.Cys1018Gly) | |
19 | g.15180191A>G | CA404513689 | NOTCH3 | c.3208T>C (p.Cys1070Arg) c.3049T>C (p.Cys1017Arg) c.3052T>C (p.Cys1018Arg) | |
19 | g.15180191A>T | CA404513691 | NOTCH3 | c.3208T>A (p.Cys1070Ser) c.3049T>A (p.Cys1017Ser) c.3052T>A (p.Cys1018Ser) | |
19 | g.15180194_15180196del | CA2583062882 | NOTCH3 | c.3206_3208del (p.Tyr1069del) c.3047_3049del (p.Tyr1016del) c.3050_3052del (p.Tyr1017del) | gnomAD v4 |
19 | g.15180192G>A | CA9263157 | NOTCH3 | c.3207C>T (p.Tyr1069=) c.3048C>T (p.Tyr1016=) c.3051C>T (p.Tyr1017=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180192G>C | CA404513694 | NOTCH3 | c.3207C>G (p.Tyr1069Ter) c.3048C>G (p.Tyr1016Ter) c.3051C>G (p.Tyr1017Ter) | |
19 | g.15180192G= | CA2324744280 | NOTCH3 | c.3207C= (p.Tyr1069=) c.3048C= (p.Tyr1016=) c.3051C= (p.Tyr1017=) | |
19 | g.15180192G>T | CA404513693 | NOTCH3 | c.3207C>A (p.Tyr1069Ter) c.3048C>A (p.Tyr1016Ter) c.3051C>A (p.Tyr1017Ter) | |
19 | g.15180193T>A | CA404513697 | NOTCH3 | c.3206A>T (p.Tyr1069Phe) c.3047A>T (p.Tyr1016Phe) c.3050A>T (p.Tyr1017Phe) | |
19 | g.15180193T>C | CA404513700 | NOTCH3 | c.3206A>G (p.Tyr1069Cys) c.3047A>G (p.Tyr1016Cys) c.3050A>G (p.Tyr1017Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180193T>G | CA404513704 | NOTCH3 | c.3206A>C (p.Tyr1069Ser) c.3047A>C (p.Tyr1016Ser) c.3050A>C (p.Tyr1017Ser) | |
19 | g.15180193T= | CA2324744281 | NOTCH3 | c.3206A= (p.Tyr1069=) c.3047A= (p.Tyr1016=) c.3050A= (p.Tyr1017=) | |
19 | g.15180194A>C | CA404513706 | NOTCH3 | c.3205T>G (p.Tyr1069Asp) c.3046T>G (p.Tyr1016Asp) c.3049T>G (p.Tyr1017Asp) | |
19 | g.15180194A>G | CA404513708 | NOTCH3 | c.3205T>C (p.Tyr1069His) c.3046T>C (p.Tyr1016His) c.3049T>C (p.Tyr1017His) | |
19 | g.15180194A>T | CA404513710 | NOTCH3 | c.3205T>A (p.Tyr1069Asn) c.3046T>A (p.Tyr1016Asn) c.3049T>A (p.Tyr1017Asn) | |
19 | g.15180195G>A | CA505824356 | NOTCH3 | c.3204C>T (p.His1068=) c.3045C>T (p.His1015=) c.3048C>T (p.His1016=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180195G>C | CA404513712 | NOTCH3 | c.3204C>G (p.His1068Gln) c.3045C>G (p.His1015Gln) c.3048C>G (p.His1016Gln) | |
19 | g.15180195G= | CA2324744282 | NOTCH3 | c.3204C= (p.His1068=) c.3045C= (p.His1015=) c.3048C= (p.His1016=) | |
19 | g.15180195G>T | CA404513714 | NOTCH3 | c.3204C>A (p.His1068Gln) c.3045C>A (p.His1015Gln) c.3048C>A (p.His1016Gln) | |
19 | g.15180196T>A | CA404513717 | NOTCH3 | c.3203A>T (p.His1068Leu) c.3044A>T (p.His1015Leu) c.3047A>T (p.His1016Leu) | |
19 | g.15180196T>C | CA404513720 | NOTCH3 | c.3203A>G (p.His1068Arg) c.3044A>G (p.His1015Arg) c.3047A>G (p.His1016Arg) | |
19 | g.15180196T>G | CA404513722 | NOTCH3 | c.3203A>C (p.His1068Pro) c.3044A>C (p.His1015Pro) c.3047A>C (p.His1016Pro) | |
19 | g.15180197G>A | CA305770022 | NOTCH3 | c.3202C>T (p.His1068Tyr) c.3043C>T (p.His1015Tyr) c.3046C>T (p.His1016Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180197G>C | CA404513726 | NOTCH3 | c.3202C>G (p.His1068Asp) c.3043C>G (p.His1015Asp) c.3046C>G (p.His1016Asp) | |
19 | g.15180197G= | CA2324744283 | NOTCH3 | c.3202C= (p.His1068=) c.3043C= (p.His1015=) c.3046C= (p.His1016=) | |
19 | g.15180197G>T | CA404513724 | NOTCH3 | c.3202C>A (p.His1068Asn) c.3043C>A (p.His1015Asn) c.3046C>A (p.His1016Asn) | |
19 | g.15180198G>A | CA505824357 | NOTCH3 | c.3201C>T (p.Ser1067=) c.3042C>T (p.Ser1014=) c.3045C>T (p.Ser1015=) | |
19 | g.15180198G>C | CA505824358 | NOTCH3 | c.3201C>G (p.Ser1067=) c.3042C>G (p.Ser1014=) c.3045C>G (p.Ser1015=) | |
19 | g.15180198G>T | CA505824359 | NOTCH3 | c.3201C>A (p.Ser1067=) c.3042C>A (p.Ser1014=) c.3045C>A (p.Ser1015=) | |
19 | g.15180199G>A | CA404513728 | NOTCH3 | c.3200C>T (p.Ser1067Phe) c.3041C>T (p.Ser1014Phe) c.3044C>T (p.Ser1015Phe) | gnomAD v4 |
19 | g.15180199G>C | CA404513734 | NOTCH3 | c.3200C>G (p.Ser1067Cys) c.3041C>G (p.Ser1014Cys) c.3044C>G (p.Ser1015Cys) | |
19 | g.15180199G>T | CA404513731 | NOTCH3 | c.3200C>A (p.Ser1067Tyr) c.3041C>A (p.Ser1014Tyr) c.3044C>A (p.Ser1015Tyr) | |
19 | g.15180200A>C | CA404513736 | NOTCH3 | c.3199T>G (p.Ser1067Ala) c.3040T>G (p.Ser1014Ala) c.3043T>G (p.Ser1015Ala) | |
19 | g.15180200A>G | CA404513737 | NOTCH3 | c.3199T>C (p.Ser1067Pro) c.3040T>C (p.Ser1014Pro) c.3043T>C (p.Ser1015Pro) | gnomAD v4 |
19 | g.15180200A>T | CA404513739 | NOTCH3 | c.3199T>A (p.Ser1067Thr) c.3040T>A (p.Ser1014Thr) c.3043T>A (p.Ser1015Thr) | |
19 | g.15180201G>A | CA505824360 | NOTCH3 | c.3198C>T (p.Ser1066=) c.3039C>T (p.Ser1013=) c.3042C>T (p.Ser1014=) | |
19 | g.15180201G>C | CA404513743 | NOTCH3 | c.3198C>G (p.Ser1066Arg) c.3039C>G (p.Ser1013Arg) c.3042C>G (p.Ser1014Arg) | |
19 | g.15180201G>T | CA404513744 | NOTCH3 | c.3198C>A (p.Ser1066Arg) c.3039C>A (p.Ser1013Arg) c.3042C>A (p.Ser1014Arg) | |
19 | g.15180202C>A | CA404513747 | NOTCH3 | c.3197G>T (p.Ser1066Ile) c.3038G>T (p.Ser1013Ile) c.3041G>T (p.Ser1014Ile) | |
19 | g.15180202C>G | CA404513749 | NOTCH3 | c.3197G>C (p.Ser1066Thr) c.3038G>C (p.Ser1013Thr) c.3041G>C (p.Ser1014Thr) | |
19 | g.15180202C>T | CA404513750 | NOTCH3 | c.3197G>A (p.Ser1066Asn) c.3038G>A (p.Ser1013Asn) c.3041G>A (p.Ser1014Asn) | gnomAD v4 |
19 | g.15180203T>A | CA404513752 | NOTCH3 | c.3196A>T (p.Ser1066Cys) c.3037A>T (p.Ser1013Cys) c.3040A>T (p.Ser1014Cys) | |
19 | g.15180203T>C | CA404513755 | NOTCH3 | c.3196A>G (p.Ser1066Gly) c.3037A>G (p.Ser1013Gly) c.3040A>G (p.Ser1014Gly) | |
19 | g.15180203T>G | CA404513758 | NOTCH3 | c.3196A>C (p.Ser1066Arg) c.3037A>C (p.Ser1013Arg) c.3040A>C (p.Ser1014Arg) | |
19 | g.15180204G>A | CA505824361 | NOTCH3 | c.3195C>T (p.Asp1065=) c.3036C>T (p.Asp1012=) c.3039C>T (p.Asp1013=) | gnomAD v4 |
19 | g.15180204G>C | CA404513760 | NOTCH3 | c.3195C>G (p.Asp1065Glu) c.3036C>G (p.Asp1012Glu) c.3039C>G (p.Asp1013Glu) | |
19 | g.15180204G>T | CA404513762 | NOTCH3 | c.3195C>A (p.Asp1065Glu) c.3036C>A (p.Asp1012Glu) c.3039C>A (p.Asp1013Glu) | |
19 | g.15180205T>A | CA404513765 | NOTCH3 | c.3194A>T (p.Asp1065Val) c.3035A>T (p.Asp1012Val) c.3038A>T (p.Asp1013Val) | |
19 | g.15180205T>C | CA404513771 | NOTCH3 | c.3194A>G (p.Asp1065Gly) c.3035A>G (p.Asp1012Gly) c.3038A>G (p.Asp1013Gly) | |
19 | g.15180205T>G | CA404513767 | NOTCH3 | c.3194A>C (p.Asp1065Ala) c.3035A>C (p.Asp1012Ala) c.3038A>C (p.Asp1013Ala) | |
19 | g.15180206C>A | CA404513780 | NOTCH3 | c.3193G>T (p.Asp1065Tyr) c.3034G>T (p.Asp1012Tyr) c.3037G>T (p.Asp1013Tyr) | |
19 | g.15180206C= | CA2324744284 | NOTCH3 | c.3193G= (p.Asp1065=) c.3034G= (p.Asp1012=) c.3037G= (p.Asp1013=) | |
19 | g.15180206C>G | CA404513783 | NOTCH3 | c.3193G>C (p.Asp1065His) c.3034G>C (p.Asp1012His) c.3037G>C (p.Asp1013His) | |
19 | g.15180206C>T | CA305770026 | NOTCH3 | c.3193G>A (p.Asp1065Asn) c.3034G>A (p.Asp1012Asn) c.3037G>A (p.Asp1013Asn) | ClinVar dbSNP |
19 | g.15180207T>A | CA404513787 | NOTCH3 | c.3192A>T (p.Glu1064Asp) c.3033A>T (p.Glu1011Asp) c.3036A>T (p.Glu1012Asp) | |
19 | g.15180207T>C | CA505824363 | NOTCH3 | c.3192A>G (p.Glu1064=) c.3033A>G (p.Glu1011=) c.3036A>G (p.Glu1012=) | |
19 | g.15180207T>G | CA404513788 | NOTCH3 | c.3192A>C (p.Glu1064Asp) c.3033A>C (p.Glu1011Asp) c.3036A>C (p.Glu1012Asp) | |
19 | g.15180208T>A | CA404513791 | NOTCH3 | c.3191A>T (p.Glu1064Val) c.3032A>T (p.Glu1011Val) c.3035A>T (p.Glu1012Val) | |
19 | g.15180208T>C | CA404513794 | NOTCH3 | c.3191A>G (p.Glu1064Gly) c.3032A>G (p.Glu1011Gly) c.3035A>G (p.Glu1012Gly) | |
19 | g.15180208T>G | CA404513796 | NOTCH3 | c.3191A>C (p.Glu1064Ala) c.3032A>C (p.Glu1011Ala) c.3035A>C (p.Glu1012Ala) | |
19 | g.15180209C>A | CA404513797 | NOTCH3 | c.3190G>T (p.Glu1064Ter) c.3031G>T (p.Glu1011Ter) c.3034G>T (p.Glu1012Ter) | COSMIC COSMIC |
19 | g.15180209C>G | CA404513798 | NOTCH3 | c.3190G>C (p.Glu1064Gln) c.3031G>C (p.Glu1011Gln) c.3034G>C (p.Glu1012Gln) | |
19 | g.15180209C>T | CA404513799 | NOTCH3 | c.3190G>A (p.Glu1064Lys) c.3031G>A (p.Glu1011Lys) c.3034G>A (p.Glu1012Lys) | |
19 | g.15180210A>C | CA404513800 | NOTCH3 | c.3189T>G (p.Asp1063Glu) c.3030T>G (p.Asp1010Glu) c.3033T>G (p.Asp1011Glu) | |
19 | g.15180210A>G | CA505824365 | NOTCH3 | c.3189T>C (p.Asp1063=) c.3030T>C (p.Asp1010=) c.3033T>C (p.Asp1011=) | |
19 | g.15180210A>T | CA404513801 | NOTCH3 | c.3189T>A (p.Asp1063Glu) c.3030T>A (p.Asp1010Glu) c.3033T>A (p.Asp1011Glu) | |
19 | g.15180211T>A | CA404513802 | NOTCH3 | c.3188A>T (p.Asp1063Val) c.3029A>T (p.Asp1010Val) c.3032A>T (p.Asp1011Val) | |
19 | g.15180211T>C | CA404513803 | NOTCH3 | c.3188A>G (p.Asp1063Gly) c.3029A>G (p.Asp1010Gly) c.3032A>G (p.Asp1011Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180211T>G | CA404513804 | NOTCH3 | c.3188A>C (p.Asp1063Ala) c.3029A>C (p.Asp1010Ala) c.3032A>C (p.Asp1011Ala) | |
19 | g.15180211T= | CA2324744285 | NOTCH3 | c.3188A= (p.Asp1063=) c.3029A= (p.Asp1010=) c.3032A= (p.Asp1011=) | |
19 | g.15180212C>A | CA404513806 | NOTCH3 | c.3187G>T (p.Asp1063Tyr) c.3028G>T (p.Asp1010Tyr) c.3031G>T (p.Asp1011Tyr) | |
19 | g.15180212C= | CA2324744286 | NOTCH3 | c.3187G= (p.Asp1063=) c.3028G= (p.Asp1010=) c.3031G= (p.Asp1011=) | |
19 | g.15180212C>G | CA9263158 | NOTCH3 | c.3187G>C (p.Asp1063His) c.3028G>C (p.Asp1010His) c.3031G>C (p.Asp1011His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180212C>T | CA404513809 | NOTCH3 | c.3187G>A (p.Asp1063Asn) c.3028G>A (p.Asp1010Asn) c.3031G>A (p.Asp1011Asn) | dbSNP |
19 | g.15180213C>A | CA505824367 | NOTCH3 | c.3186G>T (p.Val1062=) c.3027G>T (p.Val1009=) c.3030G>T (p.Val1010=) | |
19 | g.15180213C= | CA2324744287 | NOTCH3 | c.3186G= (p.Val1062=) c.3027G= (p.Val1009=) c.3030G= (p.Val1010=) | |
19 | g.15180213C>G | CA505824369 | NOTCH3 | c.3186G>C (p.Val1062=) c.3027G>C (p.Val1009=) c.3030G>C (p.Val1010=) | |
19 | g.15180213C>T | CA505824368 | NOTCH3 | c.3186G>A (p.Val1062=) c.3027G>A (p.Val1009=) c.3030G>A (p.Val1010=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180214A>C | CA404513816 | NOTCH3 | c.3185T>G (p.Val1062Gly) c.3026T>G (p.Val1009Gly) c.3029T>G (p.Val1010Gly) | |
19 | g.15180214A>G | CA404513811 | NOTCH3 | c.3185T>C (p.Val1062Ala) c.3026T>C (p.Val1009Ala) c.3029T>C (p.Val1010Ala) | |
19 | g.15180214A>T | CA404513813 | NOTCH3 | c.3185T>A (p.Val1062Glu) c.3026T>A (p.Val1009Glu) c.3029T>A (p.Val1010Glu) | |
19 | g.15180215C>A | CA404513818 | NOTCH3 | c.3184G>T (p.Val1062Leu) c.3025G>T (p.Val1009Leu) c.3028G>T (p.Val1010Leu) | |
19 | g.15180215C>G | CA404513820 | NOTCH3 | c.3184G>C (p.Val1062Leu) c.3025G>C (p.Val1009Leu) c.3028G>C (p.Val1010Leu) | |
19 | g.15180215C>T | CA404513821 | NOTCH3 | c.3184G>A (p.Val1062Met) c.3025G>A (p.Val1009Met) c.3028G>A (p.Val1010Met) | |
19 | g.15180216A>C | CA404513824 | NOTCH3 | c.3183T>G (p.Cys1061Trp) c.3024T>G (p.Cys1008Trp) c.3027T>G (p.Cys1009Trp) | |
19 | g.15180216A>G | CA505824370 | NOTCH3 | c.3183T>C (p.Cys1061=) c.3024T>C (p.Cys1008=) c.3027T>C (p.Cys1009=) | |
19 | g.15180216A>T | CA404513826 | NOTCH3 | c.3183T>A (p.Cys1061Ter) c.3024T>A (p.Cys1008Ter) c.3027T>A (p.Cys1009Ter) | |
19 | g.15180217C>A | CA404513828 | NOTCH3 | c.3182G>T (p.Cys1061Phe) c.3023G>T (p.Cys1008Phe) c.3026G>T (p.Cys1009Phe) | |
19 | g.15180217C= | CA2324744288 | NOTCH3 | c.3182G= (p.Cys1061=) c.3023G= (p.Cys1008=) c.3026G= (p.Cys1009=) | |
19 | g.15180217C>G | CA404513832 | NOTCH3 | c.3182G>C (p.Cys1061Ser) c.3023G>C (p.Cys1008Ser) c.3026G>C (p.Cys1009Ser) | |
19 | g.15180217C>T | CA16620807 | NOTCH3 | c.3182G>A (p.Cys1061Tyr) c.3023G>A (p.Cys1008Tyr) c.3026G>A (p.Cys1009Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.15180218A= | CA2324744289 | NOTCH3 | c.3181T= (p.Cys1061=) c.3022T= (p.Cys1008=) c.3025T= (p.Cys1009=) | |
19 | g.15180218A>C | CA404513834 | NOTCH3 | c.3181T>G (p.Cys1061Gly) c.3022T>G (p.Cys1008Gly) c.3025T>G (p.Cys1009Gly) | |
19 | g.15180218A>G | CA404513837 | NOTCH3 | c.3181T>C (p.Cys1061Arg) c.3022T>C (p.Cys1008Arg) c.3025T>C (p.Cys1009Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180218A>T | CA404513839 | NOTCH3 | c.3181T>A (p.Cys1061Ser) c.3022T>A (p.Cys1008Ser) c.3025T>A (p.Cys1009Ser) | |
19 | g.15180219C>A | CA404513843 | NOTCH3 | c.3180G>T (p.Gln1060His) c.3021G>T (p.Gln1007His) c.3024G>T (p.Gln1008His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180219C= | CA2324744290 | NOTCH3 | c.3180G= (p.Gln1060=) c.3021G= (p.Gln1007=) c.3024G= (p.Gln1008=) | |
19 | g.15180219C>G | CA404513844 | NOTCH3 | c.3180G>C (p.Gln1060His) c.3021G>C (p.Gln1007His) c.3024G>C (p.Gln1008His) | |
19 | g.15180219C>T | CA505824371 | NOTCH3 | c.3180G>A (p.Gln1060=) c.3021G>A (p.Gln1007=) c.3024G>A (p.Gln1008=) | |
19 | g.15180220T>A | CA404513847 | NOTCH3 | c.3179A>T (p.Gln1060Leu) c.3020A>T (p.Gln1007Leu) c.3023A>T (p.Gln1008Leu) | |
19 | g.15180220T>C | CA404513849 | NOTCH3 | c.3179A>G (p.Gln1060Arg) c.3020A>G (p.Gln1007Arg) c.3023A>G (p.Gln1008Arg) | |
19 | g.15180220T>G | CA404513852 | NOTCH3 | c.3179A>C (p.Gln1060Pro) c.3020A>C (p.Gln1007Pro) c.3023A>C (p.Gln1008Pro) | |
19 | g.15180221G>A | CA404513855 | NOTCH3 | c.3178C>T (p.Gln1060Ter) c.3019C>T (p.Gln1007Ter) c.3022C>T (p.Gln1008Ter) | dbSNP |
19 | g.15180221G>C | CA404513858 | NOTCH3 | c.3178C>G (p.Gln1060Glu) c.3019C>G (p.Gln1007Glu) c.3022C>G (p.Gln1008Glu) | |
19 | g.15180221G>T | CA404513864 | NOTCH3 | c.3178C>A (p.Gln1060Lys) c.3019C>A (p.Gln1007Lys) c.3022C>A (p.Gln1008Lys) | |
19 | g.15180222C>A | CA505824382 | NOTCH3 | c.3177G>T (p.Gly1059=) c.3018G>T (p.Gly1006=) c.3021G>T (p.Gly1007=) | |
19 | g.15180222C= | CA2324744291 | NOTCH3 | c.3177G= (p.Gly1059=) c.3018G= (p.Gly1006=) c.3021G= (p.Gly1007=) | |
19 | g.15180222C>G | CA505824385 | NOTCH3 | c.3177G>C (p.Gly1059=) c.3018G>C (p.Gly1006=) c.3021G>C (p.Gly1007=) | |
19 | g.15180222C>T | CA9263159 | NOTCH3 | c.3177G>A (p.Gly1059=) c.3018G>A (p.Gly1006=) c.3021G>A (p.Gly1007=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180223C>A | CA404513870 | NOTCH3 | c.3176G>T (p.Gly1059Val) c.3017G>T (p.Gly1006Val) c.3020G>T (p.Gly1007Val) | dbSNP |
19 | g.15180223C= | CA2324744292 | NOTCH3 | c.3176G= (p.Gly1059=) c.3017G= (p.Gly1006=) c.3020G= (p.Gly1007=) | |
19 | g.15180223C>G | CA404513868 | NOTCH3 | c.3176G>C (p.Gly1059Ala) c.3017G>C (p.Gly1006Ala) c.3020G>C (p.Gly1007Ala) | |
19 | g.15180223C>T | CA404513871 | NOTCH3 | c.3176G>A (p.Gly1059Glu) c.3017G>A (p.Gly1006Glu) c.3020G>A (p.Gly1007Glu) | |
19 | g.15180224C>A | CA404513874 | NOTCH3 | c.3175G>T (p.Gly1059Trp) c.3016G>T (p.Gly1006Trp) c.3019G>T (p.Gly1007Trp) | |
19 | g.15180224C>G | CA404513879 | NOTCH3 | c.3175G>C (p.Gly1059Arg) c.3016G>C (p.Gly1006Arg) c.3019G>C (p.Gly1007Arg) | |
19 | g.15180224C>T | CA404513876 | NOTCH3 | c.3175G>A (p.Gly1059Arg) c.3016G>A (p.Gly1006Arg) c.3019G>A (p.Gly1007Arg) | |
19 | g.15180225A= | CA2324744293 | NOTCH3 | c.3174T= (p.Gly1058=) c.3015T= (p.Gly1005=) c.3018T= (p.Gly1006=) | |
19 | g.15180225A>C | CA9263160 | NOTCH3 | c.3174T>G (p.Gly1058=) c.3015T>G (p.Gly1005=) c.3018T>G (p.Gly1006=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180225A>G | CA505824415 | NOTCH3 | c.3174T>C (p.Gly1058=) c.3015T>C (p.Gly1005=) c.3018T>C (p.Gly1006=) | |
19 | g.15180225A>T | CA505824418 | NOTCH3 | c.3174T>A (p.Gly1058=) c.3015T>A (p.Gly1005=) c.3018T>A (p.Gly1006=) | dbSNP |
19 | g.15180226C>A | CA9263161 | NOTCH3 | c.3173G>T (p.Gly1058Val) c.3014G>T (p.Gly1005Val) c.3017G>T (p.Gly1006Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180226C= | CA2324744294 | NOTCH3 | c.3173G= (p.Gly1058=) c.3014G= (p.Gly1005=) c.3017G= (p.Gly1006=) | |
19 | g.15180226C>G | CA404513882 | NOTCH3 | c.3173G>C (p.Gly1058Ala) c.3014G>C (p.Gly1005Ala) c.3017G>C (p.Gly1006Ala) | |
19 | g.15180226C>T | CA404513884 | NOTCH3 | c.3173G>A (p.Gly1058Asp) c.3014G>A (p.Gly1005Asp) c.3017G>A (p.Gly1006Asp) | |
19 | g.15180227C>A | CA404513887 | NOTCH3 | c.3172G>T (p.Gly1058Cys) c.3013G>T (p.Gly1005Cys) c.3016G>T (p.Gly1006Cys) | ClinVar |
19 | g.15180227C>G | CA404513890 | NOTCH3 | c.3172G>C (p.Gly1058Arg) c.3013G>C (p.Gly1005Arg) c.3016G>C (p.Gly1006Arg) | |
19 | g.15180227C>T | CA404513892 | NOTCH3 | c.3172G>A (p.Gly1058Ser) c.3013G>A (p.Gly1005Ser) c.3016G>A (p.Gly1006Ser) | gnomAD v4 |
19 | g.15180229_15180231del | CA2583062883 | NOTCH3 | c.3170_3172del (p.Ala1057del) c.3011_3013del (p.Ala1004del) c.3014_3016del (p.Ala1005del) | gnomAD v4 |
19 | g.15180228C>A | CA505824434 | NOTCH3 | c.3171G>T (p.Ala1057=) c.3012G>T (p.Ala1004=) c.3015G>T (p.Ala1005=) | |
19 | g.15180228C= | CA2324744295 | NOTCH3 | c.3171G= (p.Ala1057=) c.3012G= (p.Ala1004=) c.3015G= (p.Ala1005=) | |
19 | g.15180228C>G | CA9263162 | NOTCH3 | c.3171G>C (p.Ala1057=) c.3012G>C (p.Ala1004=) c.3015G>C (p.Ala1005=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180228C>T | CA505824437 | NOTCH3 | c.3171G>A (p.Ala1057=) c.3012G>A (p.Ala1004=) c.3015G>A (p.Ala1005=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180229G>A | CA9263163 | NOTCH3 | c.3170C>T (p.Ala1057Val) c.3011C>T (p.Ala1004Val) c.3014C>T (p.Ala1005Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180229G>C | CA404513894 | NOTCH3 | c.3170C>G (p.Ala1057Gly) c.3011C>G (p.Ala1004Gly) c.3014C>G (p.Ala1005Gly) | dbSNP |
19 | g.15180229G= | CA2324744296 | NOTCH3 | c.3170C= (p.Ala1057=) c.3011C= (p.Ala1004=) c.3014C= (p.Ala1005=) | |
19 | g.15180229G>T | CA404513896 | NOTCH3 | c.3170C>A (p.Ala1057Glu) c.3011C>A (p.Ala1004Glu) c.3014C>A (p.Ala1005Glu) | |
19 | g.15180229dup | CA2839482912 | NOTCH3 | c.3170dup (p.Gly1059TrpfsTer6) c.3011dup (p.Gly1006TrpfsTer6) c.3014dup (p.Gly1007TrpfsTer6) | |
19 | g.15180230C>A | CA404513901 | NOTCH3 | c.3169G>T (p.Ala1057Ser) c.3010G>T (p.Ala1004Ser) c.3013G>T (p.Ala1005Ser) | |
19 | g.15180230C>G | CA404513898 | NOTCH3 | c.3169G>C (p.Ala1057Pro) c.3010G>C (p.Ala1004Pro) c.3013G>C (p.Ala1005Pro) | |
19 | g.15180230C>T | CA404513900 | NOTCH3 | c.3169G>A (p.Ala1057Thr) c.3010G>A (p.Ala1004Thr) c.3013G>A (p.Ala1005Thr) | dbSNP gnomAD v4 |
19 | g.15180231C>A | CA404513903 | NOTCH3 | c.3168G>T (p.Gln1056His) c.3009G>T (p.Gln1003His) c.3012G>T (p.Gln1004His) | |
19 | g.15180231C>G | CA404513904 | NOTCH3 | c.3168G>C (p.Gln1056His) c.3009G>C (p.Gln1003His) c.3012G>C (p.Gln1004His) | COSMIC COSMIC |
19 | g.15180231C>T | CA505824461 | NOTCH3 | c.3168G>A (p.Gln1056=) c.3009G>A (p.Gln1003=) c.3012G>A (p.Gln1004=) | |
19 | g.15180231_15180247dup | CA2583062884 | NOTCH3 | c.3152_3168dup (p.Ala1057TrpfsTer?) c.2993_3009dup (p.Ala1004TrpfsTer?) c.2996_3012dup (p.Ala1005TrpfsTer?) | gnomAD v4 |
19 | g.15180232T>A | CA404513906 | NOTCH3 | c.3167A>T (p.Gln1056Leu) c.3008A>T (p.Gln1003Leu) c.3011A>T (p.Gln1004Leu) | |
19 | g.15180232T>C | CA404513908 | NOTCH3 | c.3167A>G (p.Gln1056Arg) c.3008A>G (p.Gln1003Arg) c.3011A>G (p.Gln1004Arg) | |
19 | g.15180232T>G | CA404513909 | NOTCH3 | c.3167A>C (p.Gln1056Pro) c.3008A>C (p.Gln1003Pro) c.3011A>C (p.Gln1004Pro) | |
19 | g.15180233G>A | CA404513910 | NOTCH3 | c.3166C>T (p.Gln1056Ter) c.3007C>T (p.Gln1003Ter) c.3010C>T (p.Gln1004Ter) | |
19 | g.15180233G>C | CA404513911 | NOTCH3 | c.3166C>G (p.Gln1056Glu) c.3007C>G (p.Gln1003Glu) c.3010C>G (p.Gln1004Glu) | |
19 | g.15180233G>T | CA404513913 | NOTCH3 | c.3166C>A (p.Gln1056Lys) c.3007C>A (p.Gln1003Lys) c.3010C>A (p.Gln1004Lys) | |
19 | g.15180234A>C | CA404513915 | NOTCH3 | c.3165T>G (p.Cys1055Trp) c.3006T>G (p.Cys1002Trp) c.3009T>G (p.Cys1003Trp) | |
19 | g.15180234A>G | CA505824481 | NOTCH3 | c.3165T>C (p.Cys1055=) c.3006T>C (p.Cys1002=) c.3009T>C (p.Cys1003=) | dbSNP gnomAD v4 |
19 | g.15180234A>T | CA404513916 | NOTCH3 | c.3165T>A (p.Cys1055Ter) c.3006T>A (p.Cys1002Ter) c.3009T>A (p.Cys1003Ter) | |
19 | g.15180235C>A | CA404513918 | NOTCH3 | c.3164G>T (p.Cys1055Phe) c.3005G>T (p.Cys1002Phe) c.3008G>T (p.Cys1003Phe) | |
19 | g.15180235C>G | CA404513920 | NOTCH3 | c.3164G>C (p.Cys1055Ser) c.3005G>C (p.Cys1002Ser) c.3008G>C (p.Cys1003Ser) | |
19 | g.15180235C>T | CA404513917 | NOTCH3 | c.3164G>A (p.Cys1055Tyr) c.3005G>A (p.Cys1002Tyr) c.3008G>A (p.Cys1003Tyr) | gnomAD v4 |
19 | g.15180236A>C | CA404513921 | NOTCH3 | c.3163T>G (p.Cys1055Gly) c.3004T>G (p.Cys1002Gly) c.3007T>G (p.Cys1003Gly) | |
19 | g.15180236A>G | CA404513923 | NOTCH3 | c.3163T>C (p.Cys1055Arg) c.3004T>C (p.Cys1002Arg) c.3007T>C (p.Cys1003Arg) | |
19 | g.15180236A>T | CA404513925 | NOTCH3 | c.3163T>A (p.Cys1055Ser) c.3004T>A (p.Cys1002Ser) c.3007T>A (p.Cys1003Ser) | |
19 | g.15180237C>A | CA505824504 | NOTCH3 | c.3162G>T (p.Leu1054=) c.3003G>T (p.Leu1001=) c.3006G>T (p.Leu1002=) | dbSNP |
19 | g.15180237C= | CA2324744297 | NOTCH3 | c.3162G= (p.Leu1054=) c.3003G= (p.Leu1001=) c.3006G= (p.Leu1002=) | |
19 | g.15180237C>G | CA505824507 | NOTCH3 | c.3162G>C (p.Leu1054=) c.3003G>C (p.Leu1001=) c.3006G>C (p.Leu1002=) | gnomAD v4 |
19 | g.15180237C>T | CA505824511 | NOTCH3 | c.3162G>A (p.Leu1054=) c.3003G>A (p.Leu1001=) c.3006G>A (p.Leu1002=) | |
19 | g.15180238A>C | CA404513926 | NOTCH3 | c.3161T>G (p.Leu1054Arg) c.3002T>G (p.Leu1001Arg) c.3005T>G (p.Leu1002Arg) | COSMIC |
19 | g.15180238A>G | CA404513927 | NOTCH3 | c.3161T>C (p.Leu1054Pro) c.3002T>C (p.Leu1001Pro) c.3005T>C (p.Leu1002Pro) | |
19 | g.15180238A>T | CA404513929 | NOTCH3 | c.3161T>A (p.Leu1054Gln) c.3002T>A (p.Leu1001Gln) c.3005T>A (p.Leu1002Gln) | |
19 | g.15180239G>A | CA505824526 | NOTCH3 | c.3160C>T (p.Leu1054=) c.3001C>T (p.Leu1001=) c.3004C>T (p.Leu1002=) | dbSNP gnomAD v4 |
19 | g.15180239G>C | CA404513930 | NOTCH3 | c.3160C>G (p.Leu1054Val) c.3001C>G (p.Leu1001Val) c.3004C>G (p.Leu1002Val) | |
19 | g.15180239G= | CA2324744298 | NOTCH3 | c.3160C= (p.Leu1054=) c.3001C= (p.Leu1001=) c.3004C= (p.Leu1002=) | |
19 | g.15180239G>T | CA404513931 | NOTCH3 | c.3160C>A (p.Leu1054Met) c.3001C>A (p.Leu1001Met) c.3004C>A (p.Leu1002Met) | gnomAD v4 |
19 | g.15180240C>A | CA404513932 | NOTCH3 | c.3159G>T (p.Gln1053His) c.3000G>T (p.Gln1000His) c.3003G>T (p.Gln1001His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180240C= | CA2324744299 | NOTCH3 | c.3159G= (p.Gln1053=) c.3000G= (p.Gln1000=) c.3003G= (p.Gln1001=) | |
19 | g.15180240C>G | CA404513933 | NOTCH3 | c.3159G>C (p.Gln1053His) c.3000G>C (p.Gln1000His) c.3003G>C (p.Gln1001His) | |
19 | g.15180240C>T | CA505824536 | NOTCH3 | c.3159G>A (p.Gln1053=) c.3000G>A (p.Gln1000=) c.3003G>A (p.Gln1001=) | dbSNP |
19 | g.15180241T>A | CA404513935 | NOTCH3 | c.3158A>T (p.Gln1053Leu) c.2999A>T (p.Gln1000Leu) c.3002A>T (p.Gln1001Leu) | |
19 | g.15180241T>C | CA404513937 | NOTCH3 | c.3158A>G (p.Gln1053Arg) c.2999A>G (p.Gln1000Arg) c.3002A>G (p.Gln1001Arg) | |
19 | g.15180241T>G | CA404513938 | NOTCH3 | c.3158A>C (p.Gln1053Pro) c.2999A>C (p.Gln1000Pro) c.3002A>C (p.Gln1001Pro) | |
19 | g.15180242G>A | CA404513941 | NOTCH3 | c.3157C>T (p.Gln1053Ter) c.2998C>T (p.Gln1000Ter) c.3001C>T (p.Gln1001Ter) | dbSNP gnomAD v4 |
19 | g.15180242G>C | CA404513940 | NOTCH3 | c.3157C>G (p.Gln1053Glu) c.2998C>G (p.Gln1000Glu) c.3001C>G (p.Gln1001Glu) | |
19 | g.15180242G>T | CA404513939 | NOTCH3 | c.3157C>A (p.Gln1053Lys) c.2998C>A (p.Gln1000Lys) c.3001C>A (p.Gln1001Lys) | |
19 | g.15180243C>A | CA404513942 | NOTCH3 | c.3156G>T (p.Glu1052Asp) c.2997G>T (p.Glu999Asp) c.3000G>T (p.Glu1000Asp) | |
19 | g.15180243C= | CA2324744300 | NOTCH3 | c.3156G= (p.Glu1052=) c.2997G= (p.Glu999=) c.3000G= (p.Glu1000=) | |
19 | g.15180243C>G | CA404513943 | NOTCH3 | c.3156G>C (p.Glu1052Asp) c.2997G>C (p.Glu999Asp) c.3000G>C (p.Glu1000Asp) | |
19 | g.15180243C>T | CA505824567 | NOTCH3 | c.3156G>A (p.Glu1052=) c.2997G>A (p.Glu999=) c.3000G>A (p.Glu1000=) | dbSNP gnomAD v4 |
19 | g.15180244T>A | CA404513944 | NOTCH3 | c.3155A>T (p.Glu1052Val) c.2996A>T (p.Glu999Val) c.2999A>T (p.Glu1000Val) | |
19 | g.15180244T>C | CA9263164 | NOTCH3 | c.3155A>G (p.Glu1052Gly) c.2996A>G (p.Glu999Gly) c.2999A>G (p.Glu1000Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180244T>G | CA404513946 | NOTCH3 | c.3155A>C (p.Glu1052Ala) c.2996A>C (p.Glu999Ala) c.2999A>C (p.Glu1000Ala) | |
19 | g.15180244T= | CA2324744301 | NOTCH3 | c.3155A= (p.Glu1052=) c.2996A= (p.Glu999=) c.2999A= (p.Glu1000=) | |
19 | g.15180245C>A | CA404513947 | NOTCH3 | c.3154G>T (p.Glu1052Ter) c.2995G>T (p.Glu999Ter) c.2998G>T (p.Glu1000Ter) | |
19 | g.15180245C>G | CA404513949 | NOTCH3 | c.3154G>C (p.Glu1052Gln) c.2995G>C (p.Glu999Gln) c.2998G>C (p.Glu1000Gln) | dbSNP |
19 | g.15180245C>T | CA404513950 | NOTCH3 | c.3154G>A (p.Glu1052Lys) c.2995G>A (p.Glu999Lys) c.2998G>A (p.Glu1000Lys) | |
19 | g.15180246C>A | CA505824586 | NOTCH3 | c.3153G>T (p.Leu1051=) c.2994G>T (p.Leu998=) c.2997G>T (p.Leu999=) | |
19 | g.15180246C>G | CA505824595 | NOTCH3 | c.3153G>C (p.Leu1051=) c.2994G>C (p.Leu998=) c.2997G>C (p.Leu999=) | |
19 | g.15180246C>T | CA505824596 | NOTCH3 | c.3153G>A (p.Leu1051=) c.2994G>A (p.Leu998=) c.2997G>A (p.Leu999=) | |
19 | g.15180247A>C | CA404513951 | NOTCH3 | c.3152T>G (p.Leu1051Arg) c.2993T>G (p.Leu998Arg) c.2996T>G (p.Leu999Arg) | |
19 | g.15180247A>G | CA404513953 | NOTCH3 | c.3152T>C (p.Leu1051Pro) c.2993T>C (p.Leu998Pro) c.2996T>C (p.Leu999Pro) | |
19 | g.15180247A>T | CA404513954 | NOTCH3 | c.3152T>A (p.Leu1051Gln) c.2993T>A (p.Leu998Gln) c.2996T>A (p.Leu999Gln) | |
19 | g.15180248G>A | CA505824599 | NOTCH3 | c.3151C>T (p.Leu1051=) c.2992C>T (p.Leu998=) c.2995C>T (p.Leu999=) | |
19 | g.15180248G>C | CA404513956 | NOTCH3 | c.3151C>G (p.Leu1051Val) c.2992C>G (p.Leu998Val) c.2995C>G (p.Leu999Val) | |
19 | g.15180248G>T | CA404513957 | NOTCH3 | c.3151C>A (p.Leu1051Met) c.2992C>A (p.Leu998Met) c.2995C>A (p.Leu999Met) | gnomAD v4 |
19 | g.15180249C>A | CA505824619 | NOTCH3 | c.3150G>T (p.Arg1050=) c.2991G>T (p.Arg997=) c.2994G>T (p.Arg998=) | COSMIC COSMIC |
19 | g.15180249C>G | CA505824622 | NOTCH3 | c.3150G>C (p.Arg1050=) c.2991G>C (p.Arg997=) c.2994G>C (p.Arg998=) | |
19 | g.15180249C>T | CA505824615 | NOTCH3 | c.3150G>A (p.Arg1050=) c.2991G>A (p.Arg997=) c.2994G>A (p.Arg998=) | dbSNP |
19 | g.15180250C>A | CA404513960 | NOTCH3 | c.3149G>T (p.Arg1050Leu) c.2990G>T (p.Arg997Leu) c.2993G>T (p.Arg998Leu) | COSMIC COSMIC |
19 | g.15180250C= | CA2324744302 | NOTCH3 | c.3149G= (p.Arg1050=) c.2990G= (p.Arg997=) c.2993G= (p.Arg998=) | |
19 | g.15180250C>G | CA404513961 | NOTCH3 | c.3149G>C (p.Arg1050Pro) c.2990G>C (p.Arg997Pro) c.2993G>C (p.Arg998Pro) | |
19 | g.15180250C>T | CA9263165 | NOTCH3 | c.3149G>A (p.Arg1050Gln) c.2990G>A (p.Arg997Gln) c.2993G>A (p.Arg998Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180251G>A | CA9263166 | NOTCH3 | c.3148C>T (p.Arg1050Trp) c.2989C>T (p.Arg997Trp) c.2992C>T (p.Arg998Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180251G>C | CA404513963 | NOTCH3 | c.3148C>G (p.Arg1050Gly) c.2989C>G (p.Arg997Gly) c.2992C>G (p.Arg998Gly) | |
19 | g.15180251G= | CA2324744303 | NOTCH3 | c.3148C= (p.Arg1050=) c.2989C= (p.Arg997=) c.2992C= (p.Arg998=) | |
19 | g.15180251G>T | CA9263167 | NOTCH3 | c.3148C>A (p.Arg1050=) c.2989C>A (p.Arg997=) c.2992C>A (p.Arg998=) | dbSNP ExAC gnomAD v2 gnomAD v4 |