| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47283721G>A | CA772535647 | ITGB3 | c.361+172G>A (n.361+172G>A) c.326+172G>A | dbSNP |
| 17 | g.47283721G>C | CA626378181 | ITGB3 | c.361+172G>C (n.361+172G>C) c.326+172G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283721G= | CA2262604983 | ITGB3 | c.361+172G= (n.361+172G=) c.326+172G= | |
| 17 | g.47283724C= | CA2262604984 | ITGB3 | c.361+175C= (n.361+175C=) c.326+175C= | |
| 17 | g.47283724C>T | CA772535654 | ITGB3 | c.361+175C>T (n.361+175C>T) c.326+175C>T | dbSNP |
| 17 | g.47283727G>C | CA291224538 | ITGB3 | c.361+178G>C (n.361+178G>C) c.326+178G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283727G= | CA2262604985 | ITGB3 | c.361+178G= (n.361+178G=) c.326+178G= | |
| 17 | g.47283729G>C | CA984233788 | ITGB3 | c.361+180G>C (n.361+180G>C) c.326+180G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283729G= | CA2262604986 | ITGB3 | c.361+180G= (n.361+180G=) c.326+180G= | |
| 17 | g.47283731C= | CA2262604987 | ITGB3 | c.361+182C= (n.361+182C=) c.326+182C= | |
| 17 | g.47283731C>G | CA2262604988 | ITGB3 | c.361+182C>G (n.361+182C>G) c.326+182C>G | dbSNP |
| 17 | g.47283731C>T | CA2262604989 | ITGB3 | c.361+182C>T (n.361+182C>T) c.326+182C>T | dbSNP |
| 17 | g.47283732A>T | CA2741538251 | ITGB3 | c.361+183A>T (n.361+183A>T) c.326+183A>T | |
| 17 | g.47283736G>A | CA2539499151 | ITGB3 | c.361+187G>A (n.361+187G>A) c.326+187G>A | |
| 17 | g.47283737del | CA2809686257 | ITGB3 | c.361+188del (n.361+188del) c.326+188del | |
| 17 | g.47283738T>C | CA2809686258 | ITGB3 | c.361+189T>C (n.361+189T>C) c.326+189T>C | |
| 17 | g.47283744G>A | CA2262604991 | ITGB3 | c.361+195G>A (n.361+195G>A) c.326+195G>A | dbSNP |
| 17 | g.47283744G= | CA2262604990 | ITGB3 | c.361+195G= (n.361+195G=) c.326+195G= | |
| 17 | g.47283745T>C | CA291224539 | ITGB3 | c.361+196T>C (n.361+196T>C) c.326+196T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283745T= | CA2262604992 | ITGB3 | c.361+196T= (n.361+196T=) c.326+196T= | |
| 17 | g.47283748A= | CA2262604993 | ITGB3 | c.361+199A= (n.361+199A=) c.326+199A= | |
| 17 | g.47283748A>G | CA291224541 | ITGB3 | c.361+199A>G (n.361+199A>G) c.326+199A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283752T>C | CA626378187 | ITGB3 | c.361+203T>C (n.361+203T>C) c.326+203T>C | dbSNP gnomAD v2 |
| 17 | g.47283752T= | CA2262604995 | ITGB3 | c.361+203T= (n.361+203T=) c.326+203T= | |
| 17 | g.47283752_47283757delinsTTACTG | CA2262604994 | ITGB3 | c.361+203_361+208delinsTTACTG (n.361+203_361+208delinsTTACTG) c.326+203_326+208delinsTTACTG | |
| 17 | g.47283753T>A | CA2581311753 | ITGB3 | c.361+204T>A (n.361+204T>A) c.326+204T>A | |
| 17 | g.47283753T>C | CA2581311754 | ITGB3 | c.361+204T>C (n.361+204T>C) c.326+204T>C | |
| 17 | g.47283753T>G | CA14421843 | ITGB3 | c.361+204T>G (n.361+204T>G) c.326+204T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283753T= | CA2262604996 | ITGB3 | c.361+204T= (n.361+204T=) c.326+204T= | |
| 17 | g.47283755_47283759del | CA772535660 | ITGB3 | c.361+206_361+210del (n.361+206_361+210del) c.326+206_326+210del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283755C= | CA2262604997 | ITGB3 | c.361+206C= (n.361+206C=) c.326+206C= | |
| 17 | g.47283755C>G | CA2262604998 | ITGB3 | c.361+206C>G (n.361+206C>G) c.326+206C>G | dbSNP |
| 17 | g.47283756T>C | CA772535663 | ITGB3 | c.361+207T>C (n.361+207T>C) c.326+207T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283756T>G | CA291224543 | ITGB3 | c.361+207T>G (n.361+207T>G) c.326+207T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283756T= | CA2262604999 | ITGB3 | c.361+207T= (n.361+207T=) c.326+207T= | |
| 17 | g.47283757G>A | CA2262605001 | ITGB3 | c.361+208G>A (n.361+208G>A) c.326+208G>A | dbSNP |
| 17 | g.47283757G= | CA2262605000 | ITGB3 | c.361+208G= (n.361+208G=) c.326+208G= | |
| 17 | g.47283762A= | CA2262605002 | ITGB3 | c.361+213A= (n.361+213A=) c.326+213A= | |
| 17 | g.47283762A>G | CA291224545 | ITGB3 | c.361+213A>G (n.361+213A>G) c.326+213A>G | dbSNP |
| 17 | g.47283763T>C | CA2733705955 | ITGB3 | c.361+214T>C (n.361+214T>C) c.326+214T>C | dbSNP |
| 17 | g.47283764A= | CA2262605003 | ITGB3 | c.361+215A= (n.361+215A=) c.326+215A= | |
| 17 | g.47283764A>G | CA772535670 | ITGB3 | c.361+215A>G (n.361+215A>G) c.326+215A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283764A>T | CA291224546 | ITGB3 | c.361+215A>T (n.361+215A>T) c.326+215A>T | dbSNP |
| 17 | g.47283766A= | CA2262605004 | ITGB3 | c.361+217A= (n.361+217A=) c.326+217A= | |
| 17 | g.47283766A>G | CA291224548 | ITGB3 | c.361+217A>G (n.361+217A>G) c.326+217A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283782T>C | CA984233796 | ITGB3 | c.361+233T>C (n.361+233T>C) c.326+233T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283782T= | CA2262605005 | ITGB3 | c.361+233T= (n.361+233T=) c.326+233T= | |
| 17 | g.47283783G= | CA2262605006 | ITGB3 | c.361+234G= (n.361+234G=) c.326+234G= | |
| 17 | g.47283783G>T | CA2262605007 | ITGB3 | c.361+234G>T (n.361+234G>T) c.326+234G>T | dbSNP |
| 17 | g.47283789G>A | CA291224549 | ITGB3 | c.361+240G>A (n.361+240G>A) c.326+240G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283789G= | CA2262605008 | ITGB3 | c.361+240G= (n.361+240G=) c.326+240G= | |
| 17 | g.47283796A= | CA2262605009 | ITGB3 | c.361+247A= (n.361+247A=) c.326+247A= | |
| 17 | g.47283796A>T | CA2262605010 | ITGB3 | c.361+247A>T (n.361+247A>T) c.326+247A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283797A= | CA2262605011 | ITGB3 | c.361+248A= (n.361+248A=) c.326+248A= | |
| 17 | g.47283797A>G | CA291224551 | ITGB3 | c.361+248A>G (n.361+248A>G) c.326+248A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283799C= | CA2262605012 | ITGB3 | c.361+250C= (n.361+250C=) c.326+250C= | |
| 17 | g.47283799C>T | CA291224552 | ITGB3 | c.361+250C>T (n.361+250C>T) c.326+250C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283802T>C | CA626378190 | ITGB3 | c.361+253T>C (n.361+253T>C) c.326+253T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283802T= | CA2262605013 | ITGB3 | c.361+253T= (n.361+253T=) c.326+253T= | |
| 17 | g.47283805_47283808dup | CA984233811 | ITGB3 | c.361+256_361+259dup (n.361+256_361+259dup) c.326+256_326+259dup | gnomAD v3 gnomAD v4 |
| 17 | g.47283806A= | CA2262605014 | ITGB3 | c.361+257A= (n.361+257A=) c.326+257A= | |
| 17 | g.47283806A>G | CA2262605015 | ITGB3 | c.361+257A>G (n.361+257A>G) c.326+257A>G | dbSNP |
| 17 | g.47283807C= | CA2262605016 | ITGB3 | c.361+258C= (n.361+258C=) c.326+258C= | |
| 17 | g.47283807C>T | CA2262605017 | ITGB3 | c.361+258C>T (n.361+258C>T) c.326+258C>T | dbSNP |
| 17 | g.47283810A= | CA2262605018 | ITGB3 | c.361+261A= (n.361+261A=) c.326+261A= | |
| 17 | g.47283810A>T | CA772535682 | ITGB3 | c.361+261A>T (n.361+261A>T) c.326+261A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283812T>C | CA772535683 | ITGB3 | c.361+263T>C (n.361+263T>C) c.326+263T>C | dbSNP |
| 17 | g.47283812T= | CA2262605019 | ITGB3 | c.361+263T= (n.361+263T=) c.326+263T= | |
| 17 | g.47283815G= | CA2262605020 | ITGB3 | c.361+266G= (n.361+266G=) c.326+266G= | |
| 17 | g.47283815G>T | CA772535687 | ITGB3 | c.361+266G>T (n.361+266G>T) c.326+266G>T | dbSNP |
| 17 | g.47283817G>A | CA2262605022 | ITGB3 | c.361+268G>A (n.361+268G>A) c.326+268G>A | dbSNP |
| 17 | g.47283817G= | CA2262605021 | ITGB3 | c.361+268G= (n.361+268G=) c.326+268G= | |
| 17 | g.47283819T>C | CA2809686259 | ITGB3 | c.361+270T>C (n.361+270T>C) c.326+270T>C | |
| 17 | g.47283819T>G | CA2262605024 | ITGB3 | c.361+270T>G (n.361+270T>G) c.326+270T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283819T= | CA2262605023 | ITGB3 | c.361+270T= (n.361+270T=) c.326+270T= | |
| 17 | g.47283820C= | CA2262605025 | ITGB3 | c.361+271C= (n.361+271C=) c.326+271C= | |
| 17 | g.47283820C>T | CA2262605026 | ITGB3 | c.361+271C>T (n.361+271C>T) c.326+271C>T | dbSNP gnomAD v4 |