Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47283668_47283670del | CA2533943062 | ITGB3 | c.361+119_361+121del (n.361+119_361+121del) c.326+119_326+121del | |
17 | g.47283669A>C | CA2638435282 | ITGB3 | c.361+120A>C (n.361+120A>C) c.326+120A>C | gnomAD v4 |
17 | g.47283669A>G | CA2638435283 | ITGB3 | c.361+120A>G (n.361+120A>G) c.326+120A>G | gnomAD v4 |
17 | g.47283669_47283670delinsAG | CA2262604950 | ITGB3 | c.361+120_361+121delinsAG (n.361+120_361+121delinsAG) c.326+120_326+121delinsAG | |
17 | g.47283670G>A | CA2638435284 | ITGB3 | c.361+121G>A (n.361+121G>A) c.326+121G>A | gnomAD v4 |
17 | g.47283670G>C | CA2638435285 | ITGB3 | c.361+121G>C (n.361+121G>C) c.326+121G>C | gnomAD v4 |
17 | g.47283670G>T | CA2638435286 | ITGB3 | c.361+121G>T (n.361+121G>T) c.326+121G>T | gnomAD v4 |
17 | g.47283671del | CA2262604951 | ITGB3 | c.361+122del (n.361+122del) c.326+122del | dbSNP |
17 | g.47283671G>T | CA2638435287 | ITGB3 | c.361+122G>T (n.361+122G>T) c.326+122G>T | gnomAD v4 |
17 | g.47283672A>G | CA2638435288 | ITGB3 | c.361+123A>G (n.361+123A>G) c.326+123A>G | gnomAD v4 |
17 | g.47283673T>C | CA2638435289 | ITGB3 | c.361+124T>C (n.361+124T>C) c.326+124T>C | gnomAD v4 |
17 | g.47283674G>A | CA2638435290 | ITGB3 | c.361+125G>A (n.361+125G>A) c.326+125G>A | gnomAD v4 |
17 | g.47283674G>T | CA2638435291 | ITGB3 | c.361+125G>T (n.361+125G>T) c.326+125G>T | gnomAD v4 |
17 | g.47283674_47283675delinsGA | CA2262604952 | ITGB3 | c.361+125_361+126delinsGA (n.361+125_361+126delinsGA) c.326+125_326+126delinsGA | |
17 | g.47283675del | CA772535621 | ITGB3 | c.361+126del (n.361+126del) c.326+126del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283675A= | CA2262604955 | ITGB3 | c.361+126A= (n.361+126A=) c.326+126A= | |
17 | g.47283675A>G | CA2262604954 | ITGB3 | c.361+126A>G (n.361+126A>G) c.326+126A>G | dbSNP gnomAD v4 |
17 | g.47283675_47283676delinsAG | CA2262604953 | ITGB3 | c.361+126_361+127delinsAG (n.361+126_361+127delinsAG) c.326+126_326+127delinsAG | |
17 | g.47283676G>A | CA626378174 | ITGB3 | c.361+127G>A (n.361+127G>A) c.326+127G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283676G>C | CA291224527 | ITGB3 | c.361+127G>C (n.361+127G>C) c.326+127G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283676G= | CA2262604958 | ITGB3 | c.361+127G= (n.361+127G=) c.326+127G= | |
17 | g.47283676G>T | CA2262604957 | ITGB3 | c.361+127G>T (n.361+127G>T) c.326+127G>T | dbSNP gnomAD v4 |
17 | g.47283681dup | CA772535625 | ITGB3 | c.361+132dup (n.361+132dup) c.326+132dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283681del | CA2262604956 | ITGB3 | c.361+132del (n.361+132del) c.326+132del | dbSNP gnomAD v4 |
17 | g.47283677G>A | CA2638435292 | ITGB3 | c.361+128G>A (n.361+128G>A) c.326+128G>A | gnomAD v4 |
17 | g.47283677G>C | CA291224528 | ITGB3 | c.361+128G>C (n.361+128G>C) c.326+128G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283677G= | CA2262604959 | ITGB3 | c.361+128G= (n.361+128G=) c.326+128G= | |
17 | g.47283677G>T | CA984233779 | ITGB3 | c.361+128G>T (n.361+128G>T) c.326+128G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283678G>A | CA2638435294 | ITGB3 | c.361+129G>A (n.361+129G>A) c.326+129G>A | gnomAD v4 |
17 | g.47283678G>C | CA2638435295 | ITGB3 | c.361+129G>C (n.361+129G>C) c.326+129G>C | gnomAD v4 |
17 | g.47283678G>T | CA2638435293 | ITGB3 | c.361+129G>T (n.361+129G>T) c.326+129G>T | gnomAD v4 |
17 | g.47283679G>A | CA626378175 | ITGB3 | c.361+130G>A (n.361+130G>A) c.326+130G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283679G= | CA2262604960 | ITGB3 | c.361+130G= (n.361+130G=) c.326+130G= | |
17 | g.47283679G>T | CA2638435296 | ITGB3 | c.361+130G>T (n.361+130G>T) c.326+130G>T | gnomAD v4 |
17 | g.47283680G>A | CA2638435297 | ITGB3 | c.361+131G>A (n.361+131G>A) c.326+131G>A | gnomAD v4 |
17 | g.47283680G>T | CA2638435298 | ITGB3 | c.361+131G>T (n.361+131G>T) c.326+131G>T | gnomAD v4 |
17 | g.47283681G>A | CA14475636 | ITGB3 | c.361+132G>A (n.361+132G>A) c.326+132G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283681G= | CA2262604961 | ITGB3 | c.361+132G= (n.361+132G=) c.326+132G= | |
17 | g.47283681G>T | CA2262604962 | ITGB3 | c.361+132G>T (n.361+132G>T) c.326+132G>T | dbSNP gnomAD v4 |
17 | g.47283682A>G | CA2638435300 | ITGB3 | c.361+133A>G (n.361+133A>G) c.326+133A>G | gnomAD v4 |
17 | g.47283682dup | CA2638435299 | ITGB3 | c.361+133dup (n.361+133dup) c.326+133dup | gnomAD v4 |
17 | g.47283683G>A | CA2638435301 | ITGB3 | c.361+134G>A (n.361+134G>A) c.326+134G>A | gnomAD v4 |
17 | g.47283683G= | CA2262604963 | ITGB3 | c.361+134G= (n.361+134G=) c.326+134G= | |
17 | g.47283683G>T | CA291224530 | ITGB3 | c.361+134G>T (n.361+134G>T) c.326+134G>T | dbSNP gnomAD v4 |
17 | g.47283684G>A | CA2638435302 | ITGB3 | c.361+135G>A (n.361+135G>A) c.326+135G>A | gnomAD v4 |
17 | g.47283684G= | CA2262604964 | ITGB3 | c.361+135G= (n.361+135G=) c.326+135G= | |
17 | g.47283684G>T | CA291224531 | ITGB3 | c.361+135G>T (n.361+135G>T) c.326+135G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283685T>C | CA2638435303 | ITGB3 | c.361+136T>C (n.361+136T>C) c.326+136T>C | gnomAD v4 |
17 | g.47283685T>G | CA2638435304 | ITGB3 | c.361+136T>G (n.361+136T>G) c.326+136T>G | gnomAD v4 |
17 | g.47283686G>A | CA2638435306 | ITGB3 | c.361+137G>A (n.361+137G>A) c.326+137G>A | gnomAD v4 |
17 | g.47283686G>T | CA2638435305 | ITGB3 | c.361+137G>T (n.361+137G>T) c.326+137G>T | gnomAD v4 |
17 | g.47283687T>C | CA2262604966 | ITGB3 | c.361+138T>C (n.361+138T>C) c.326+138T>C | dbSNP |
17 | g.47283687T= | CA2262604965 | ITGB3 | c.361+138T= (n.361+138T=) c.326+138T= | |
17 | g.47283688G>A | CA2638435307 | ITGB3 | c.361+139G>A (n.361+139G>A) c.326+139G>A | gnomAD v4 |
17 | g.47283688G>T | CA2638435308 | ITGB3 | c.361+139G>T (n.361+139G>T) c.326+139G>T | gnomAD v4 |
17 | g.47283689G>A | CA2262604968 | ITGB3 | c.361+140G>A (n.361+140G>A) c.326+140G>A | dbSNP gnomAD v4 |
17 | g.47283689G= | CA2262604967 | ITGB3 | c.361+140G= (n.361+140G=) c.326+140G= | |
17 | g.47283689G>T | CA2638435309 | ITGB3 | c.361+140G>T (n.361+140G>T) c.326+140G>T | gnomAD v4 |
17 | g.47283690G>A | CA2262604970 | ITGB3 | c.361+141G>A (n.361+141G>A) c.326+141G>A | dbSNP gnomAD v4 |
17 | g.47283690G= | CA2262604969 | ITGB3 | c.361+141G= (n.361+141G=) c.326+141G= | |
17 | g.47283690G>T | CA2638435310 | ITGB3 | c.361+141G>T (n.361+141G>T) c.326+141G>T | gnomAD v4 |
17 | g.47283691C>A | CA2638435311 | ITGB3 | c.361+142C>A (n.361+142C>A) c.326+142C>A | gnomAD v4 |
17 | g.47283691C>G | CA2638435312 | ITGB3 | c.361+142C>G (n.361+142C>G) c.326+142C>G | gnomAD v4 |
17 | g.47283691C>T | CA2638435313 | ITGB3 | c.361+142C>T (n.361+142C>T) c.326+142C>T | gnomAD v4 |
17 | g.47283693A>G | CA2638435314 | ITGB3 | c.361+144A>G (n.361+144A>G) c.326+144A>G | gnomAD v4 |
17 | g.47283694G>A | CA2638435315 | ITGB3 | c.361+145G>A (n.361+145G>A) c.326+145G>A | gnomAD v4 |
17 | g.47283694G>T | CA2638435316 | ITGB3 | c.361+145G>T (n.361+145G>T) c.326+145G>T | gnomAD v4 |
17 | g.47283695A>G | CA2638435317 | ITGB3 | c.361+146A>G (n.361+146A>G) c.326+146A>G | gnomAD v4 |
17 | g.47283698A>C | CA2638435318 | ITGB3 | c.361+149A>C (n.361+149A>C) c.326+149A>C | gnomAD v4 |
17 | g.47283700G>A | CA2638435320 | ITGB3 | c.361+151G>A (n.361+151G>A) c.326+151G>A | gnomAD v4 |
17 | g.47283700G>C | CA2638435321 | ITGB3 | c.361+151G>C (n.361+151G>C) c.326+151G>C | gnomAD v4 |
17 | g.47283700G>T | CA2638435319 | ITGB3 | c.361+151G>T (n.361+151G>T) c.326+151G>T | gnomAD v4 |
17 | g.47283702A= | CA2262604971 | ITGB3 | c.361+153A= (n.361+153A=) c.326+153A= | |
17 | g.47283702A>G | CA772535630 | ITGB3 | c.361+153A>G (n.361+153A>G) c.326+153A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283703A>C | CA2733705954 | ITGB3 | c.361+154A>C (n.361+154A>C) c.326+154A>C | dbSNP |
17 | g.47283704G= | CA2262604972 | ITGB3 | c.361+155G= (n.361+155G=) c.326+155G= | |
17 | g.47283704G>T | CA2262604973 | ITGB3 | c.361+155G>T (n.361+155G>T) c.326+155G>T | dbSNP |
17 | g.47283705A= | CA2262604974 | ITGB3 | c.361+156A= (n.361+156A=) c.326+156A= | |
17 | g.47283705A>G | CA772535634 | ITGB3 | c.361+156A>G (n.361+156A>G) c.326+156A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283716C>A | CA626378179 | ITGB3 | c.361+167C>A (n.361+167C>A) c.326+167C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283716C= | CA2262604975 | ITGB3 | c.361+167C= (n.361+167C=) c.326+167C= | |
17 | g.47283716C>T | CA291224533 | ITGB3 | c.361+167C>T (n.361+167C>T) c.326+167C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283717G>A | CA291224535 | ITGB3 | c.361+168G>A (n.361+168G>A) c.326+168G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283717G>C | CA2262604977 | ITGB3 | c.361+168G>C (n.361+168G>C) c.326+168G>C | dbSNP |
17 | g.47283717G= | CA2262604976 | ITGB3 | c.361+168G= (n.361+168G=) c.326+168G= | |
17 | g.47283717G>T | CA2262604978 | ITGB3 | c.361+168G>T (n.361+168G>T) c.326+168G>T | dbSNP |
17 | g.47283718T>G | CA2262604980 | ITGB3 | c.361+169T>G (n.361+169T>G) c.326+169T>G | dbSNP |
17 | g.47283718T= | CA2262604979 | ITGB3 | c.361+169T= (n.361+169T=) c.326+169T= | |
17 | g.47283719T>G | CA2809686256 | ITGB3 | c.361+170T>G (n.361+170T>G) c.326+170T>G | |
17 | g.47283720A= | CA2262604981 | ITGB3 | c.361+171A= (n.361+171A=) c.326+171A= | |
17 | g.47283720A>G | CA2262604982 | ITGB3 | c.361+171A>G (n.361+171A>G) c.326+171A>G | dbSNP |
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 |