| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47283561A>C | CA2697560132 | ITGB3 | c.361+12A>C (n.361+12A>C) c.326+12A>C | ClinVar |
| 17 | g.47283561A>G | CA2638435218 | ITGB3 | c.361+12A>G (n.361+12A>G) c.326+12A>G | gnomAD v4 |
| 17 | g.47283562C>T | CA2576302208 | ITGB3 | c.361+13C>T (n.361+13C>T) c.326+13C>T | |
| 17 | g.47283563T>C | CA2638435219 | ITGB3 | c.361+14T>C (n.361+14T>C) c.326+14T>C | gnomAD v4 |
| 17 | g.47283564C= | CA2262604914 | ITGB3 | c.361+15C= (n.361+15C=) c.326+15C= | |
| 17 | g.47283564C>G | CA626378166 | ITGB3 | c.361+15C>G (n.361+15C>G) c.326+15C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283564C>T | CA8622930 | ITGB3 | c.361+15C>T (n.361+15C>T) c.326+15C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.47283564_47283566delinsCTT | CA2262604913 | ITGB3 | c.361+15_361+17delinsCTT (n.361+15_361+17delinsCTT) c.326+15_326+17delinsCTT | |
| 17 | g.47283566_47283567del | CA8622929 | ITGB3 | c.361+17_361+18del (n.361+17_361+18del) c.326+17_326+18del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283569C>A | CA8622933 | ITGB3 | c.361+20C>A (n.361+20C>A) c.326+20C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47283569C= | CA2262604915 | ITGB3 | c.361+20C= (n.361+20C=) c.326+20C= | |
| 17 | g.47283569C>G | CA2697560133 | ITGB3 | c.361+20C>G (n.361+20C>G) c.326+20C>G | ClinVar |
| 17 | g.47283569C>T | CA8622932 | ITGB3 | c.361+20C>T (n.361+20C>T) c.326+20C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283569_47283570delinsCG | CA2262604916 | ITGB3 | c.361+20_361+21delinsCG (n.361+20_361+21delinsCG) c.326+20_326+21delinsCG | |
| 17 | g.47283570G>A | CA8622934 | ITGB3 | c.361+21G>A (n.361+21G>A) c.326+21G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283570G>C | CA2638435220 | ITGB3 | c.361+21G>C (n.361+21G>C) c.326+21G>C | gnomAD v4 |
| 17 | g.47283570G= | CA2262604917 | ITGB3 | c.361+21G= (n.361+21G=) c.326+21G= | |
| 17 | g.47283573del | CA8622931 | ITGB3 | c.361+24del (n.361+24del) c.326+24del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283572G>C | CA2262604918 | ITGB3 | c.361+23G>C (n.361+23G>C) c.326+23G>C | dbSNP |
| 17 | g.47283572G= | CA2262604919 | ITGB3 | c.361+23G= (n.361+23G=) c.326+23G= | |
| 17 | g.47283572G>T | CA772535600 | ITGB3 | c.361+23G>T (n.361+23G>T) c.326+23G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283573G>A | CA2262604921 | ITGB3 | c.361+24G>A (n.361+24G>A) c.326+24G>A | dbSNP gnomAD v4 |
| 17 | g.47283573G= | CA2262604920 | ITGB3 | c.361+24G= (n.361+24G=) c.326+24G= | |
| 17 | g.47283573G>T | CA656371663 | ITGB3 | c.361+24G>T (n.361+24G>T) c.326+24G>T | COSMIC |
| 17 | g.47283577_47283578del | CA2638435221 | ITGB3 | c.361+28_361+29del (n.361+28_361+29del) c.326+28_326+29del | gnomAD v4 |
| 17 | g.47283574A>G | CA2638435222 | ITGB3 | c.361+25A>G (n.361+25A>G) c.326+25A>G | gnomAD v4 |
| 17 | g.47283577G>A | CA291224520 | ITGB3 | c.361+28G>A (n.361+28G>A) c.326+28G>A | dbSNP gnomAD v4 |
| 17 | g.47283577G= | CA2262604922 | ITGB3 | c.361+28G= (n.361+28G=) c.326+28G= | |
| 17 | g.47283579C>A | CA2809686252 | ITGB3 | c.361+30C>A (n.361+30C>A) c.326+30C>A | |
| 17 | g.47283579C>G | CA2809686253 | ITGB3 | c.361+30C>G (n.361+30C>G) c.326+30C>G | |
| 17 | g.47283579C>T | CA2638435223 | ITGB3 | c.361+30C>T (n.361+30C>T) c.326+30C>T | gnomAD v4 |
| 17 | g.47283580C>G | CA2638435224 | ITGB3 | c.361+31C>G (n.361+31C>G) c.326+31C>G | gnomAD v4 |
| 17 | g.47283586C>A | CA2576302209 | ITGB3 | c.361+37C>A (n.361+37C>A) c.326+37C>A | |
| 17 | g.47283587A>T | CA2809686254 | ITGB3 | c.361+38A>T (n.361+38A>T) c.326+38A>T | |
| 17 | g.47283588G= | CA2262604923 | ITGB3 | c.361+39G= (n.361+39G=) c.326+39G= | |
| 17 | g.47283588G>T | CA8622935 | ITGB3 | c.361+39G>T (n.361+39G>T) c.326+39G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283589G>A | CA2733705934 | ITGB3 | c.361+40G>A (n.361+40G>A) c.326+40G>A | dbSNP |
| 17 | g.47283589G>T | CA2576302210 | ITGB3 | c.361+40G>T (n.361+40G>T) c.326+40G>T | |
| 17 | g.47283591G>A | CA656371668 | ITGB3 | c.361+42G>A (n.361+42G>A) c.326+42G>A | COSMIC |
| 17 | g.47283593G>A | CA2638435226 | ITGB3 | c.361+44G>A (n.361+44G>A) c.326+44G>A | gnomAD v4 |
| 17 | g.47283593G>C | CA2638435227 | ITGB3 | c.361+44G>C (n.361+44G>C) c.326+44G>C | gnomAD v4 |
| 17 | g.47283593G>T | CA2638435225 | ITGB3 | c.361+44G>T (n.361+44G>T) c.326+44G>T | gnomAD v4 |
| 17 | g.47283594C>A | CA2576302211 | ITGB3 | c.361+45C>A (n.361+45C>A) c.326+45C>A | gnomAD v4 |
| 17 | g.47283595A>T | CA2638435228 | ITGB3 | c.361+46A>T (n.361+46A>T) c.326+46A>T | gnomAD v4 |
| 17 | g.47283596T>G | CA2638435229 | ITGB3 | c.361+47T>G (n.361+47T>G) c.326+47T>G | gnomAD v4 |
| 17 | g.47283598G>C | CA2262604925 | ITGB3 | c.361+49G>C (n.361+49G>C) c.326+49G>C | dbSNP |
| 17 | g.47283598G= | CA2262604924 | ITGB3 | c.361+49G= (n.361+49G=) c.326+49G= | |
| 17 | g.47283598G>T | CA2509462168 | ITGB3 | c.361+49G>T (n.361+49G>T) c.326+49G>T | |
| 17 | g.47283600G>C | CA2638435230 | ITGB3 | c.361+51G>C (n.361+51G>C) c.326+51G>C | gnomAD v4 |
| 17 | g.47283601C>A | CA2638435231 | ITGB3 | c.361+52C>A (n.361+52C>A) c.326+52C>A | gnomAD v4 |
| 17 | g.47283601C= | CA2262604926 | ITGB3 | c.361+52C= (n.361+52C=) c.326+52C= | |
| 17 | g.47283601C>T | CA8622936 | ITGB3 | c.361+52C>T (n.361+52C>T) c.326+52C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47283602A= | CA2262604927 | ITGB3 | c.361+53A= (n.361+53A=) c.326+53A= | |
| 17 | g.47283602A>G | CA772535609 | ITGB3 | c.361+53A>G (n.361+53A>G) c.326+53A>G | dbSNP gnomAD v4 |
| 17 | g.47283602A>T | CA2638435232 | ITGB3 | c.361+53A>T (n.361+53A>T) c.326+53A>T | gnomAD v4 |
| 17 | g.47283603C>G | CA2576302212 | ITGB3 | c.361+54C>G (n.361+54C>G) c.326+54C>G | |
| 17 | g.47283604_47283610delinsAAGGTGG | CA2262604928 | ITGB3 | c.361+55_361+61delinsAAGGTGG (n.361+55_361+61delinsAAGGTGG) c.326+55_326+61delinsAAGGTGG | |
| 17 | g.47283609_47283614del | CA2262604929 | ITGB3 | c.361+60_361+65del (n.361+60_361+65del) c.326+60_326+65del | dbSNP |
| 17 | g.47283606G>A | CA2638435233 | ITGB3 | c.361+57G>A (n.361+57G>A) c.326+57G>A | gnomAD v4 |
| 17 | g.47283606G= | CA2262604931 | ITGB3 | c.361+57G= (n.361+57G=) c.326+57G= | |
| 17 | g.47283606G>T | CA2262604930 | ITGB3 | c.361+57G>T (n.361+57G>T) c.326+57G>T | dbSNP gnomAD v4 |
| 17 | g.47283610G>A | CA291224522 | ITGB3 | c.361+61G>A (n.361+61G>A) c.326+61G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283610G>C | CA2638435234 | ITGB3 | c.361+61G>C (n.361+61G>C) c.326+61G>C | gnomAD v4 |
| 17 | g.47283610G= | CA2262604932 | ITGB3 | c.361+61G= (n.361+61G=) c.326+61G= | |
| 17 | g.47283611A>G | CA2638435235 | ITGB3 | c.361+62A>G (n.361+62A>G) c.326+62A>G | gnomAD v4 |
| 17 | g.47283612G>A | CA2262604934 | ITGB3 | c.361+63G>A (n.361+63G>A) c.326+63G>A | dbSNP |
| 17 | g.47283612G= | CA2262604933 | ITGB3 | c.361+63G= (n.361+63G=) c.326+63G= | |
| 17 | g.47283612G>T | CA2262604935 | ITGB3 | c.361+63G>T (n.361+63G>T) c.326+63G>T | dbSNP |
| 17 | g.47283613G>A | CA2576302213 | ITGB3 | c.361+64G>A (n.361+64G>A) c.326+64G>A | gnomAD v4 |
| 17 | g.47283614T>C | CA2638435236 | ITGB3 | c.361+65T>C (n.361+65T>C) c.326+65T>C | gnomAD v4 |
| 17 | g.47283615C>A | CA2576302214 | ITGB3 | c.361+66C>A (n.361+66C>A) c.326+66C>A | gnomAD v4 |
| 17 | g.47283616T>G | CA2638435237 | ITGB3 | c.361+67T>G (n.361+67T>G) c.326+67T>G | gnomAD v4 |
| 17 | g.47283617G>A | CA772535616 | ITGB3 | c.361+68G>A (n.361+68G>A) c.326+68G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283617G= | CA2262604936 | ITGB3 | c.361+68G= (n.361+68G=) c.326+68G= | |
| 17 | g.47283617dup | CA2594684349 | ITGB3 | c.361+68dup (n.361+68dup) c.326+68dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283624A>C | CA2809686255 | ITGB3 | c.361+75A>C (n.361+75A>C) c.326+75A>C | |
| 17 | g.47283625A= | CA2262604937 | ITGB3 | c.361+76A= (n.361+76A=) c.326+76A= | |
| 17 | g.47283625A>T | CA2262604938 | ITGB3 | c.361+76A>T (n.361+76A>T) c.326+76A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283627T>A | CA2576302215 | ITGB3 | c.361+78T>A (n.361+78T>A) c.326+78T>A | |
| 17 | g.47283628C>A | CA2638435238 | ITGB3 | c.361+79C>A (n.361+79C>A) c.326+79C>A | gnomAD v4 |
| 17 | g.47283628C>T | CA2638435239 | ITGB3 | c.361+79C>T (n.361+79C>T) c.326+79C>T | gnomAD v4 |
| 17 | g.47283629T>C | CA2262604940 | ITGB3 | c.361+80T>C (n.361+80T>C) c.326+80T>C | dbSNP gnomAD v4 |
| 17 | g.47283629T= | CA2262604939 | ITGB3 | c.361+80T= (n.361+80T=) c.326+80T= | |
| 17 | g.47283630T>A | CA2638435240 | ITGB3 | c.361+81T>A (n.361+81T>A) c.326+81T>A | gnomAD v4 |
| 17 | g.47283630_47283631delinsTG | CA2262604941 | ITGB3 | c.361+81_361+82delinsTG (n.361+81_361+82delinsTG) c.326+81_326+82delinsTG | |
| 17 | g.47283631G>A | CA2638435241 | ITGB3 | c.361+82G>A (n.361+82G>A) c.326+82G>A | gnomAD v4 |
| 17 | g.47283634del | CA984233740 | ITGB3 | c.361+85del (n.361+85del) c.326+85del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283632G>A | CA2638435242 | ITGB3 | c.361+83G>A (n.361+83G>A) c.326+83G>A | gnomAD v4 |
| 17 | g.47283632G>C | CA2638435243 | ITGB3 | c.361+83G>C (n.361+83G>C) c.326+83G>C | gnomAD v4 |
| 17 | g.47283632G>T | CA2638435244 | ITGB3 | c.361+83G>T (n.361+83G>T) c.326+83G>T | gnomAD v4 |
| 17 | g.47283633G>A | CA2576302216 | ITGB3 | c.361+84G>A (n.361+84G>A) c.326+84G>A | gnomAD v4 |
| 17 | g.47283633G>T | CA2638435245 | ITGB3 | c.361+84G>T (n.361+84G>T) c.326+84G>T | gnomAD v4 |
| 17 | g.47283634G>A | CA2638435246 | ITGB3 | c.361+85G>A (n.361+85G>A) c.326+85G>A | dbSNP gnomAD v4 |
| 17 | g.47283634G>T | CA2576302217 | ITGB3 | c.361+85G>T (n.361+85G>T) c.326+85G>T | |
| 17 | g.47283636A>C | CA2638435247 | ITGB3 | c.361+87A>C (n.361+87A>C) c.326+87A>C | gnomAD v4 |
| 17 | g.47283636A>G | CA2638435248 | ITGB3 | c.361+87A>G (n.361+87A>G) c.326+87A>G | dbSNP gnomAD v4 |
| 17 | g.47283637G>A | CA2576302218 | ITGB3 | c.361+88G>A (n.361+88G>A) c.326+88G>A | gnomAD v4 |
| 17 | g.47283637_47283640del | CA2501367792 | ITGB3 | c.361+88_361+91del (n.361+88_361+91del) c.326+88_326+91del | |
| 17 | g.47283640G>A | CA2638435249 | ITGB3 | c.361+91G>A (n.361+91G>A) c.326+91G>A | gnomAD v4 |
| 17 | g.47283640G>C | CA291224523 | ITGB3 | c.361+91G>C (n.361+91G>C) c.326+91G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283640G= | CA2262604942 | ITGB3 | c.361+91G= (n.361+91G=) c.326+91G= | |
| 17 | g.47283640G>T | CA2638435250 | ITGB3 | c.361+91G>T (n.361+91G>T) c.326+91G>T | gnomAD v4 |
| 17 | g.47283641C>A | CA2638435252 | ITGB3 | c.361+92C>A (n.361+92C>A) c.326+92C>A | gnomAD v4 |
| 17 | g.47283641C>T | CA2638435251 | ITGB3 | c.361+92C>T (n.361+92C>T) c.326+92C>T | gnomAD v4 |
| 17 | g.47283641_47283642insA | CA2563410917 | ITGB3 | c.361+92_361+93insA (n.361+92_361+93insA) c.326+92_326+93insA | |
| 17 | g.47283642T>A | CA2576302219 | ITGB3 | c.361+93T>A (n.361+93T>A) c.326+93T>A | |
| 17 | g.47283643C>A | CA2638435253 | ITGB3 | c.361+94C>A (n.361+94C>A) c.326+94C>A | gnomAD v4 |
| 17 | g.47283643C= | CA2262604943 | ITGB3 | c.361+94C= (n.361+94C=) c.326+94C= | |
| 17 | g.47283643C>G | CA2638435254 | ITGB3 | c.361+94C>G (n.361+94C>G) c.326+94C>G | gnomAD v4 |
| 17 | g.47283643C>T | CA2262604944 | ITGB3 | c.361+94C>T (n.361+94C>T) c.326+94C>T | dbSNP gnomAD v4 |
| 17 | g.47283644A= | CA2262604945 | ITGB3 | c.361+95A= (n.361+95A=) c.326+95A= | |
| 17 | g.47283644A>C | CA2576302220 | ITGB3 | c.361+95A>C (n.361+95A>C) c.326+95A>C | gnomAD v4 |
| 17 | g.47283644A>G | CA2262604946 | ITGB3 | c.361+95A>G (n.361+95A>G) c.326+95A>G | dbSNP gnomAD v4 |
| 17 | g.47283645G>A | CA984233753 | ITGB3 | c.361+96G>A (n.361+96G>A) c.326+96G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47283645G= | CA2262604947 | ITGB3 | c.361+96G= (n.361+96G=) c.326+96G= | |
| 17 | g.47283645G>T | CA2638435255 | ITGB3 | c.361+96G>T (n.361+96G>T) c.326+96G>T | gnomAD v4 |
| 17 | g.47283647A>C | CA2638435256 | ITGB3 | c.361+98A>C (n.361+98A>C) c.326+98A>C | gnomAD v4 |
| 17 | g.47283647A>G | CA2638435257 | ITGB3 | c.361+98A>G (n.361+98A>G) c.326+98A>G | gnomAD v4 |
| 17 | g.47283647A>T | CA2638435258 | ITGB3 | c.361+98A>T (n.361+98A>T) c.326+98A>T | gnomAD v4 |
| 17 | g.47283648T>A | CA2638435259 | ITGB3 | c.361+99T>A (n.361+99T>A) c.326+99T>A | gnomAD v4 |
| 17 | g.47283650G>T | CA2638435260 | ITGB3 | c.361+101G>T (n.361+101G>T) c.326+101G>T | gnomAD v4 |
| 17 | g.47283651A>G | CA2638435261 | ITGB3 | c.361+102A>G (n.361+102A>G) c.326+102A>G | gnomAD v4 |
| 17 | g.47283652A>G | CA2638435262 | ITGB3 | c.361+103A>G (n.361+103A>G) c.326+103A>G | gnomAD v4 |
| 17 | g.47283653A>C | CA2638435263 | ITGB3 | c.361+104A>C (n.361+104A>C) c.326+104A>C | gnomAD v4 |
| 17 | g.47283653A>T | CA2638435264 | ITGB3 | c.361+104A>T (n.361+104A>T) c.326+104A>T | gnomAD v4 |
| 17 | g.47283655G>A | CA2559248909 | ITGB3 | c.361+106G>A (n.361+106G>A) c.326+106G>A | gnomAD v4 |
| 17 | g.47283655G>T | CA2638435265 | ITGB3 | c.361+106G>T (n.361+106G>T) c.326+106G>T | gnomAD v4 |
| 17 | g.47283656G>C | CA2638435266 | ITGB3 | c.361+107G>C (n.361+107G>C) c.326+107G>C | gnomAD v4 |
| 17 | g.47283656G>T | CA2638435267 | ITGB3 | c.361+107G>T (n.361+107G>T) c.326+107G>T | gnomAD v4 |
| 17 | g.47283657G>A | CA2638435268 | ITGB3 | c.361+108G>A (n.361+108G>A) c.326+108G>A | gnomAD v4 |
| 17 | g.47283657G>T | CA2638435269 | ITGB3 | c.361+108G>T (n.361+108G>T) c.326+108G>T | gnomAD v4 |
| 17 | g.47283658G>A | CA2638435270 | ITGB3 | c.361+109G>A (n.361+109G>A) c.326+109G>A | gnomAD v4 |
| 17 | g.47283658G>T | CA2638435271 | ITGB3 | c.361+109G>T (n.361+109G>T) c.326+109G>T | gnomAD v4 |
| 17 | g.47283659T>C | CA2638435272 | ITGB3 | c.361+110T>C (n.361+110T>C) c.326+110T>C | gnomAD v4 |
| 17 | g.47283660G>A | CA2638435274 | ITGB3 | c.361+111G>A (n.361+111G>A) c.326+111G>A | gnomAD v4 |
| 17 | g.47283660G>C | CA2638435275 | ITGB3 | c.361+111G>C (n.361+111G>C) c.326+111G>C | gnomAD v4 |
| 17 | g.47283660G>T | CA2638435276 | ITGB3 | c.361+111G>T (n.361+111G>T) c.326+111G>T | gnomAD v4 |
| 17 | g.47283662del | CA2638435273 | ITGB3 | c.361+113del (n.361+113del) c.326+113del | gnomAD v4 |
| 17 | g.47283661G>A | CA2638435277 | ITGB3 | c.361+112G>A (n.361+112G>A) c.326+112G>A | gnomAD v4 |
| 17 | g.47283661G>T | CA2638435278 | ITGB3 | c.361+112G>T (n.361+112G>T) c.326+112G>T | gnomAD v4 |