| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47284743G>A | CA2809686272 | ITGB3 | c.614+48G>A (n.614+48G>A) c.579+48G>A | |
| 17 | g.47284744G>T | CA2638435400 | ITGB3 | c.614+49G>T (n.614+49G>T) c.579+49G>T | gnomAD v4 |
| 17 | g.47284745T>C | CA626378558 | ITGB3 | c.614+50T>C (n.614+50T>C) c.579+50T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47284745T= | CA2262605392 | ITGB3 | c.614+50T= (n.614+50T=) c.579+50T= | |
| 17 | g.47284746C= | CA2262605393 | ITGB3 | c.614+51C= (n.614+51C=) c.579+51C= | |
| 17 | g.47284746C>T | CA8623002 | ITGB3 | c.614+51C>T (n.614+51C>T) c.579+51C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284747C>A | CA2638435401 | ITGB3 | c.614+52C>A (n.614+52C>A) c.579+52C>A | gnomAD v4 |
| 17 | g.47284750del | CA2638435402 | ITGB3 | c.614+55del (n.614+55del) c.579+55del | gnomAD v4 |
| 17 | g.47284750G>C | CA2548508669 | ITGB3 | c.614+55G>C (n.614+55G>C) c.579+55G>C | gnomAD v4 |
| 17 | g.47284752C>G | CA2576302229 | ITGB3 | c.614+57C>G (n.614+57C>G) c.579+57C>G | |
| 17 | g.47284756G>T | CA2576302230 | ITGB3 | c.614+61G>T (n.614+61G>T) c.579+61G>T | |
| 17 | g.47284757T>G | CA2638435403 | ITGB3 | c.614+62T>G (n.614+62T>G) c.579+62T>G | gnomAD v4 |
| 17 | g.47284760C>A | CA2576302231 | ITGB3 | c.614+65C>A (n.614+65C>A) c.579+65C>A | |
| 17 | g.47284760C= | CA2262605394 | ITGB3 | c.614+65C= (n.614+65C=) c.579+65C= | |
| 17 | g.47284760C>G | CA2262605395 | ITGB3 | c.614+65C>G (n.614+65C>G) c.579+65C>G | dbSNP |
| 17 | g.47284760C>T | CA291224685 | ITGB3 | c.614+65C>T (n.614+65C>T) c.579+65C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284762A>G | CA2638435404 | ITGB3 | c.614+67A>G (n.614+67A>G) c.579+67A>G | gnomAD v4 |
| 17 | g.47284764_47284770delinsTTCTAGC | CA2262605396 | ITGB3 | c.614+69_614+75delinsTTCTAGC (n.614+69_614+75delinsTTCTAGC) c.579+69_579+75delinsTTCTAGC | |
| 17 | g.47284765T>C | CA2638435405 | ITGB3 | c.614+70T>C (n.614+70T>C) c.579+70T>C | gnomAD v4 |
| 17 | g.47284770_47284775del | CA772536410 | ITGB3 | c.614+75_614+80del (n.614+75_614+80del) c.579+75_579+80del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284767T>C | CA2638435406 | ITGB3 | c.614+72T>C (n.614+72T>C) c.579+72T>C | gnomAD v4 |
| 17 | g.47284770C>G | CA2576302232 | ITGB3 | c.614+75C>G (n.614+75C>G) c.579+75C>G | |
| 17 | g.47284771T>C | CA772536417 | ITGB3 | c.614+76T>C (n.614+76T>C) c.579+76T>C | dbSNP |
| 17 | g.47284771T>G | CA2638435407 | ITGB3 | c.614+76T>G (n.614+76T>G) c.579+76T>G | gnomAD v4 |
| 17 | g.47284771T= | CA2262605397 | ITGB3 | c.614+76T= (n.614+76T=) c.579+76T= | |
| 17 | g.47284772C>G | CA2576302233 | ITGB3 | c.614+77C>G (n.614+77C>G) c.579+77C>G | |
| 17 | g.47284773T>G | CA2638435408 | ITGB3 | c.614+78T>G (n.614+78T>G) c.579+78T>G | gnomAD v4 |
| 17 | g.47284774A>C | CA2638435409 | ITGB3 | c.614+79A>C (n.614+79A>C) c.579+79A>C | gnomAD v4 |
| 17 | g.47284774A>G | CA2576302234 | ITGB3 | c.614+79A>G (n.614+79A>G) c.579+79A>G | gnomAD v4 |
| 17 | g.47284775G>A | CA984234175 | ITGB3 | c.614+80G>A (n.614+80G>A) c.579+80G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284775G= | CA2262605398 | ITGB3 | c.614+80G= (n.614+80G=) c.579+80G= | |
| 17 | g.47284775G>T | CA2638435410 | ITGB3 | c.614+80G>T (n.614+80G>T) c.579+80G>T | gnomAD v4 |
| 17 | g.47284776G>T | CA2638435411 | ITGB3 | c.614+81G>T (n.614+81G>T) c.579+81G>T | gnomAD v4 |
| 17 | g.47284777A>G | CA2638435412 | ITGB3 | c.614+82A>G (n.614+82A>G) c.579+82A>G | gnomAD v4 |
| 17 | g.47284778T>C | CA2638435413 | ITGB3 | c.614+83T>C (n.614+83T>C) c.579+83T>C | gnomAD v4 |
| 17 | g.47284778T= | CA2262605399 | ITGB3 | c.614+83T= (n.614+83T=) c.579+83T= | |
| 17 | g.47284779C>A | CA2638435414 | ITGB3 | c.614+84C>A (n.614+84C>A) c.579+84C>A | gnomAD v4 |
| 17 | g.47284779C>G | CA2576302235 | ITGB3 | c.614+84C>G (n.614+84C>G) c.579+84C>G | |
| 17 | g.47284779C>T | CA2638435415 | ITGB3 | c.614+84C>T (n.614+84C>T) c.579+84C>T | gnomAD v4 |
| 17 | g.47284781_47284803dup | CA2262605400 | ITGB3 | c.614+86_614+108dup (n.614+86_614+108dup) c.579+86_579+108dup | dbSNP gnomAD v4 |
| 17 | g.47284780A= | CA2262605401 | ITGB3 | c.614+85A= (n.614+85A=) c.579+85A= | |
| 17 | g.47284780A>G | CA984234181 | ITGB3 | c.614+85A>G (n.614+85A>G) c.579+85A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284781C= | CA2262605402 | ITGB3 | c.614+86C= (n.614+86C=) c.579+86C= | |
| 17 | g.47284781C>T | CA984234203 | ITGB3 | c.614+86C>T (n.614+86C>T) c.579+86C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284782T>G | CA2638435416 | ITGB3 | c.614+87T>G (n.614+87T>G) c.579+87T>G | gnomAD v4 |
| 17 | g.47284785G>A | CA291224686 | ITGB3 | c.614+90G>A (n.614+90G>A) c.579+90G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284785G= | CA2262605403 | ITGB3 | c.614+90G= (n.614+90G=) c.579+90G= | |
| 17 | g.47284785G>T | CA291224688 | ITGB3 | c.614+90G>T (n.614+90G>T) c.579+90G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284789G>A | CA2262605405 | ITGB3 | c.614+94G>A (n.614+94G>A) c.579+94G>A | dbSNP gnomAD v4 |
| 17 | g.47284789G= | CA2262605404 | ITGB3 | c.614+94G= (n.614+94G=) c.579+94G= | |
| 17 | g.47284789G>T | CA2638435417 | ITGB3 | c.614+94G>T (n.614+94G>T) c.579+94G>T | gnomAD v4 |
| 17 | g.47284790C>A | CA2638435418 | ITGB3 | c.614+95C>A (n.614+95C>A) c.579+95C>A | gnomAD v4 |
| 17 | g.47284792G>A | CA2262605407 | ITGB3 | c.614+97G>A (n.614+97G>A) c.579+97G>A | dbSNP gnomAD v4 |
| 17 | g.47284792G= | CA2262605406 | ITGB3 | c.614+97G= (n.614+97G=) c.579+97G= | |
| 17 | g.47284792G>T | CA2638435419 | ITGB3 | c.614+97G>T (n.614+97G>T) c.579+97G>T | gnomAD v4 |
| 17 | g.47284793T>A | CA2638435420 | ITGB3 | c.614+98T>A (n.614+98T>A) c.579+98T>A | gnomAD v4 |
| 17 | g.47284794C>A | CA2638435421 | ITGB3 | c.614+99C>A (n.614+99C>A) c.579+99C>A | gnomAD v4 |
| 17 | g.47284795T>C | CA2576302236 | ITGB3 | c.614+100T>C (n.614+100T>C) c.579+100T>C | |
| 17 | g.47284795T>G | CA2638435422 | ITGB3 | c.614+100T>G (n.614+100T>G) c.579+100T>G | gnomAD v4 |
| 17 | g.47284798T>A | CA2262605409 | ITGB3 | c.614+103T>A (n.614+103T>A) c.579+103T>A | dbSNP gnomAD v4 |
| 17 | g.47284798T= | CA2262605408 | ITGB3 | c.614+103T= (n.614+103T=) c.579+103T= | |
| 17 | g.47284800del | CA2638435423 | ITGB3 | c.614+105del (n.614+105del) c.579+105del | gnomAD v4 |
| 17 | g.47284801C>A | CA2638435424 | ITGB3 | c.614+106C>A (n.614+106C>A) c.579+106C>A | gnomAD v4 |
| 17 | g.47284802C>A | CA2638435425 | ITGB3 | c.614+107C>A (n.614+107C>A) c.579+107C>A | gnomAD v4 |
| 17 | g.47284805del | CA2638435426 | ITGB3 | c.614+110del (n.614+110del) c.579+110del | gnomAD v4 |
| 17 | g.47284804A>G | CA2638435427 | ITGB3 | c.614+109A>G (n.614+109A>G) c.579+109A>G | gnomAD v4 |
| 17 | g.47284805A= | CA2262605410 | ITGB3 | c.614+110A= (n.614+110A=) c.579+110A= | |
| 17 | g.47284805A>G | CA291224689 | ITGB3 | c.614+110A>G (n.614+110A>G) c.579+110A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284806C>A | CA2638435428 | ITGB3 | c.614+111C>A (n.614+111C>A) c.579+111C>A | gnomAD v4 |
| 17 | g.47284807T>C | CA2638435429 | ITGB3 | c.614+112T>C (n.614+112T>C) c.579+112T>C | gnomAD v4 |
| 17 | g.47284809_47284810del | CA2809686273 | ITGB3 | c.614+114_614+115del (n.614+114_614+115del) c.579+114_579+115del | |
| 17 | g.47284808A= | CA2262605411 | ITGB3 | c.614+113A= (n.614+113A=) c.579+113A= | |
| 17 | g.47284808A>G | CA291224691 | ITGB3 | c.614+113A>G (n.614+113A>G) c.579+113A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284810A>G | CA2809686274 | ITGB3 | c.614+115A>G (n.614+115A>G) c.579+115A>G | |
| 17 | g.47284811G>A | CA291224692 | ITGB3 | c.614+116G>A (n.614+116G>A) c.579+116G>A | dbSNP gnomAD v4 |
| 17 | g.47284811G= | CA2262605412 | ITGB3 | c.614+116G= (n.614+116G=) c.579+116G= | |
| 17 | g.47284812C>A | CA2638435430 | ITGB3 | c.614+117C>A (n.614+117C>A) c.579+117C>A | gnomAD v4 |
| 17 | g.47284814C>A | CA2638435431 | ITGB3 | c.614+119C>A (n.614+119C>A) c.579+119C>A | gnomAD v4 |
| 17 | g.47284815C= | CA2262605413 | ITGB3 | c.614+120C= (n.614+120C=) c.579+120C= | |
| 17 | g.47284815C>G | CA2638435432 | ITGB3 | c.614+120C>G (n.614+120C>G) c.579+120C>G | gnomAD v4 |
| 17 | g.47284815C>T | CA772536420 | ITGB3 | c.614+120C>T (n.614+120C>T) c.579+120C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284818T>G | CA2809686275 | ITGB3 | c.614+123T>G (n.614+123T>G) c.579+123T>G | |
| 17 | g.47284819C>A | CA2638435433 | ITGB3 | c.614+124C>A (n.614+124C>A) c.579+124C>A | gnomAD v4 |
| 17 | g.47284820T>C | CA291224693 | ITGB3 | c.614+125T>C (n.614+125T>C) c.579+125T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284820T= | CA2262605414 | ITGB3 | c.614+125T= (n.614+125T=) c.579+125T= | |
| 17 | g.47284821A= | CA2262605415 | ITGB3 | c.614+126A= (n.614+126A=) c.579+126A= | |
| 17 | g.47284821A>G | CA772536423 | ITGB3 | c.614+126A>G (n.614+126A>G) c.579+126A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47284822C>A | CA2638435434 | ITGB3 | c.614+127C>A (n.614+127C>A) c.579+127C>A | gnomAD v4 |
| 17 | g.47284823C>A | CA2638435435 | ITGB3 | c.614+128C>A (n.614+128C>A) c.579+128C>A | gnomAD v4 |
| 17 | g.47284823C>T | CA2638435436 | ITGB3 | c.614+128C>T (n.614+128C>T) c.579+128C>T | gnomAD v4 |
| 17 | g.47284825T>G | CA2638435437 | ITGB3 | c.614+130T>G (n.614+130T>G) c.579+130T>G | gnomAD v4 |
| 17 | g.47284826G>A | CA291224695 | ITGB3 | c.614+131G>A (n.614+131G>A) c.579+131G>A | dbSNP |
| 17 | g.47284826G>C | CA291224696 | ITGB3 | c.614+131G>C (n.614+131G>C) c.579+131G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47284826G= | CA2262605416 | ITGB3 | c.614+131G= (n.614+131G=) c.579+131G= | |
| 17 | g.47284826G>T | CA656371676 | ITGB3 | c.614+131G>T (n.614+131G>T) c.579+131G>T | gnomAD v4 COSMIC |
| 17 | g.47284827G>A | CA2638435438 | ITGB3 | c.614+132G>A (n.614+132G>A) c.579+132G>A | gnomAD v4 |
| 17 | g.47284829C>A | CA2638435439 | ITGB3 | c.614+134C>A (n.614+134C>A) c.579+134C>A | gnomAD v4 |
| 17 | g.47284831C>G | CA2638435440 | ITGB3 | c.614+136C>G (n.614+136C>G) c.579+136C>G | gnomAD v4 |
| 17 | g.47284832C>A | CA2638435441 | ITGB3 | c.614+137C>A (n.614+137C>A) c.579+137C>A | gnomAD v4 |
| 17 | g.47284832C= | CA2262605417 | ITGB3 | c.614+137C= (n.614+137C=) c.579+137C= | |
| 17 | g.47284832C>T | CA772536426 | ITGB3 | c.614+137C>T (n.614+137C>T) c.579+137C>T | dbSNP gnomAD v4 |
| 17 | g.47284833C>A | CA2638435442 | ITGB3 | c.614+138C>A (n.614+138C>A) c.579+138C>A | gnomAD v4 |
| 17 | g.47284833C= | CA2262605418 | ITGB3 | c.614+138C= (n.614+138C=) c.579+138C= | |
| 17 | g.47284833C>T | CA2262605419 | ITGB3 | c.614+138C>T (n.614+138C>T) c.579+138C>T | dbSNP |
| 17 | g.47284834T>C | CA2638435443 | ITGB3 | c.614+139T>C (n.614+139T>C) c.579+139T>C | gnomAD v4 |
| 17 | g.47284835G>A | CA2809686276 | ITGB3 | c.614+140G>A (n.614+140G>A) c.579+140G>A | |
| 17 | g.47284835G>C | CA2638435444 | ITGB3 | c.614+140G>C (n.614+140G>C) c.579+140G>C | gnomAD v4 |
| 17 | g.47284836T>C | CA2262605421 | ITGB3 | c.614+141T>C (n.614+141T>C) c.579+141T>C | dbSNP gnomAD v4 |
| 17 | g.47284836T= | CA2262605420 | ITGB3 | c.614+141T= (n.614+141T=) c.579+141T= | |
| 17 | g.47284839G>T | CA2638435445 | ITGB3 | c.614+144G>T (n.614+144G>T) c.579+144G>T | gnomAD v4 |
| 17 | g.47284840G>A | CA2638435446 | ITGB3 | c.614+145G>A (n.614+145G>A) c.579+145G>A | gnomAD v4 |
| 17 | g.47284840G>T | CA2638435447 | ITGB3 | c.614+145G>T (n.614+145G>T) c.579+145G>T | gnomAD v4 |
| 17 | g.47284841C>A | CA2638435448 | ITGB3 | c.614+146C>A (n.614+146C>A) c.579+146C>A | gnomAD v4 |
| 17 | g.47284842A>C | CA2638435449 | ITGB3 | c.614+147A>C (n.614+147A>C) c.579+147A>C | gnomAD v4 |
| 17 | g.47284843A>G | CA2638435450 | ITGB3 | c.614+148A>G (n.614+148A>G) c.579+148A>G | gnomAD v4 |