Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44377679_44377681del | CA2638216557 | ITGA2B | c.2187+19_2187+21del (n.2187+19_2187+21del) c.1618+19_1618+21del n.982+19_982+21del | gnomAD v4 |
17 | g.44377678C= | CA2261366855 | ITGA2B | c.2187+20G= (n.2187+20G=) c.1618+20G= n.982+20G= | |
17 | g.44377678C>G | CA2580094049 | ITGA2B | c.2187+20G>C (n.2187+20G>C) c.1618+20G>C n.982+20G>C | ClinVar |
17 | g.44377678C>T | CA626120491 | ITGA2B | c.2187+20G>A (n.2187+20G>A) c.1618+20G>A n.982+20G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377679del | CA2638216558 | ITGA2B | c.2187+20del (n.2187+20del) c.1618+20del n.982+20del | gnomAD v4 |
17 | g.44377680A>C | CA2576291240 | ITGA2B | c.2187+18T>G (n.2187+18T>G) c.1618+18T>G n.982+18T>G | gnomAD v4 |
17 | g.44377681C= | CA2261366856 | ITGA2B | c.2187+17G= (n.2187+17G=) c.1618+17G= n.982+17G= | |
17 | g.44377681C>G | CA2638216561 | ITGA2B | c.2187+17G>C (n.2187+17G>C) c.1618+17G>C n.982+17G>C | gnomAD v4 |
17 | g.44377681C>T | CA8602800 | ITGA2B | c.2187+17G>A (n.2187+17G>A) c.1618+17G>A n.982+17G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377682G>A | CA8602801 | ITGA2B | c.2187+16C>T (n.2187+16C>T) c.1618+16C>T n.982+16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377682G= | CA2261366857 | ITGA2B | c.2187+16C= (n.2187+16C=) c.1618+16C= n.982+16C= | |
17 | g.44377682G>T | CA2576291241 | ITGA2B | c.2187+16C>A (n.2187+16C>A) c.1618+16C>A n.982+16C>A | gnomAD v4 |
17 | g.44377683del | CA2638216566 | ITGA2B | c.2187+15del (n.2187+15del) c.1618+15del n.982+15del | gnomAD v4 |
17 | g.44377684C= | CA2261366858 | ITGA2B | c.2187+14G= (n.2187+14G=) c.1618+14G= n.982+14G= | |
17 | g.44377684C>T | CA983996301 | ITGA2B | c.2187+14G>A (n.2187+14G>A) c.1618+14G>A n.982+14G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44377686del | CA2576291243 | ITGA2B | c.2187+14del (n.2187+14del) c.1618+14del n.982+14del | gnomAD v4 |
17 | g.44377685C>T | CA2638216569 | ITGA2B | c.2187+13G>A (n.2187+13G>A) c.1618+13G>A n.982+13G>A | dbSNP gnomAD v4 |
17 | g.44377686C>T | CA2638216571 | ITGA2B | c.2187+12G>A (n.2187+12G>A) c.1618+12G>A n.982+12G>A | gnomAD v4 |
17 | g.44377687A>T | CA2576291244 | ITGA2B | c.2187+11T>A (n.2187+11T>A) c.1618+11T>A n.982+11T>A | |
17 | g.44377688G>A | CA2638216573 | ITGA2B | c.2187+10C>T (n.2187+10C>T) c.1618+10C>T n.982+10C>T | gnomAD v4 |
17 | g.44377689C>T | CA2638216574 | ITGA2B | c.2187+9G>A (n.2187+9G>A) c.1618+9G>A n.982+9G>A | gnomAD v4 |
17 | g.44377689_44377690insTTTTTT | CA983996307 | ITGA2B | c.2187+8_2187+9insAAAAAA (n.2187+8_2187+9insAAAAAA) c.1618+8_1618+9insAAAAAA n.982+8_982+9insAAAAAA | gnomAD v3 gnomAD v4 |
17 | g.44377690_44377691insATGATACG | CA983996312 | ITGA2B | c.2187+7_2187+8insCGTATCAT (n.2187+7_2187+8insCGTATCAT) c.1618+7_1618+8insCGTATCAT n.982+7_982+8insCGTATCAT | gnomAD v3 gnomAD v4 |
17 | g.44377691G>A | CA2638216575 | ITGA2B | c.2187+7C>T (n.2187+7C>T) c.1618+7C>T n.982+7C>T | gnomAD v4 |
17 | g.44377692C>A | CA8602802 | ITGA2B | c.2187+6G>T (n.2187+6G>T) c.1618+6G>T n.982+6G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377692C= | CA2261366859 | ITGA2B | c.2187+6G= (n.2187+6G=) c.1618+6G= n.982+6G= | |
17 | g.44377692C>T | CA2261366860 | ITGA2B | c.2187+6G>A (n.2187+6G>A) c.1618+6G>A n.982+6G>A | dbSNP gnomAD v4 |
17 | g.44377692_44377693insGA | CA983996322 | ITGA2B | c.2187+5_2187+6insTC (n.2187+5_2187+6insTC) c.1618+5_1618+6insTC n.982+5_982+6insTC | gnomAD v3 gnomAD v4 |
17 | g.44377693C>A | CA2570179317 | ITGA2B | c.2187+5G>T (n.2187+5G>T) c.1618+5G>T n.982+5G>T | |
17 | g.44377693C>G | CA2638216578 | ITGA2B | c.2187+5G>C (n.2187+5G>C) c.1618+5G>C n.982+5G>C | gnomAD v4 |
17 | g.44377694del | CA983996325 | ITGA2B | c.2187+4del (n.2187+4del) c.1618+4del n.982+4del | gnomAD v3 gnomAD v4 |
17 | g.44377694T>C | CA2638216580 | ITGA2B | c.2187+4A>G (n.2187+4A>G) c.1618+4A>G n.982+4A>G | gnomAD v4 |
17 | g.44377695C>T | CA2638216581 | ITGA2B | c.2187+3G>A (n.2187+3G>A) c.1618+3G>A n.982+3G>A | gnomAD v4 |
17 | g.44377696A>C | CA399798776 | ITGA2B | c.2187+2T>G (n.2187+2T>G) c.1618+2T>G n.982+2T>G | |
17 | g.44377696A>G | CA399798779 | ITGA2B | c.2187+2T>C (n.2187+2T>C) c.1618+2T>C n.982+2T>C | |
17 | g.44377696A>T | CA399798781 | ITGA2B | c.2187+2T>A (n.2187+2T>A) c.1618+2T>A n.982+2T>A | |
17 | g.44377697C>A | CA399798789 | ITGA2B | c.2187+1G>T (n.2187+1G>T) c.1618+1G>T n.982+1G>T | |
17 | g.44377697C>G | CA399798787 | ITGA2B | c.2187+1G>C (n.2187+1G>C) c.1618+1G>C n.982+1G>C | |
17 | g.44377697C>T | CA399798786 | ITGA2B | c.2187+1G>A (n.2187+1G>A) c.1618+1G>A n.982+1G>A | COSMIC |
17 | g.44377698C>A | CA399798793 | ITGA2B | c.2187G>T (p.Gln729His) c.1618G>T n.982G>T | |
17 | g.44377698C>G | CA399798796 | ITGA2B | c.2187G>C (p.Gln729His) c.1618G>C n.982G>C | |
17 | g.44377698C>T | CA500267904 | ITGA2B | c.2187G>A (p.Gln729=) c.1618G>A n.982G>A | gnomAD v4 |
17 | g.44377699del | CA983996343 | ITGA2B | c.2186del (p.Gln729ArgfsTer2) c.1617del n.981del | gnomAD v3 gnomAD v4 |
17 | g.44377699T>A | CA399798800 | ITGA2B | c.2186A>T (p.Gln729Leu) c.1617A>T n.981A>T | |
17 | g.44377699T>C | CA399798802 | ITGA2B | c.2186A>G (p.Gln729Arg) c.1617A>G n.981A>G | gnomAD v4 |
17 | g.44377699T>G | CA399798806 | ITGA2B | c.2186A>C (p.Gln729Pro) c.1617A>C n.981A>C | |
17 | g.44377700G>A | CA399798810 | ITGA2B | c.2185C>T (p.Gln729Ter) c.1616C>T n.980C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377700G>C | CA399798811 | ITGA2B | c.2185C>G (p.Gln729Glu) c.1616C>G n.980C>G | |
17 | g.44377700G= | CA2261366861 | ITGA2B | c.2185C= (p.Gln729=) c.1616C= n.980C= | |
17 | g.44377700G>T | CA399798815 | ITGA2B | c.2185C>A (p.Gln729Lys) c.1616C>A n.980C>A | gnomAD v4 |
17 | g.44377701G>A | CA290948357 | ITGA2B | c.2184C>T (p.Ala728=) c.1615C>T n.979C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44377701G>C | CA500267920 | ITGA2B | c.2184C>G (p.Ala728=) c.1615C>G n.979C>G | |
17 | g.44377701G= | CA2261366862 | ITGA2B | c.2184C= (p.Ala728=) c.1615C= n.979C= | |
17 | g.44377701G>T | CA500267922 | ITGA2B | c.2184C>A (p.Ala728=) c.1615C>A n.979C>A | |
17 | g.44377702G>A | CA8602803 | ITGA2B | c.2183C>T (p.Ala728Val) c.1614C>T n.978C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.44377702G>C | CA399798821 | ITGA2B | c.2183C>G (p.Ala728Gly) c.1614C>G n.978C>G | |
17 | g.44377702G= | CA2261366863 | ITGA2B | c.2183C= (p.Ala728=) c.1614C= n.978C= | |
17 | g.44377702G>T | CA399798823 | ITGA2B | c.2183C>A (p.Ala728Asp) c.1614C>A n.978C>A | |
17 | g.44377702_44377703delinsTA | CA645584248 | ITGA2B | c.2182_2183delinsTA (p.Ala728Tyr) c.1613_1614delinsTA n.977_978delinsTA | COSMIC |
17 | g.44377703C>A | CA399798826 | ITGA2B | c.2182G>T (p.Ala728Ser) c.1613G>T n.977G>T | gnomAD v4 |
17 | g.44377703C= | CA2261366864 | ITGA2B | c.2182G= (p.Ala728=) c.1613G= n.977G= | |
17 | g.44377703C>G | CA399798827 | ITGA2B | c.2182G>C (p.Ala728Pro) c.1613G>C n.977G>C | |
17 | g.44377703C>T | CA290948359 | ITGA2B | c.2182G>A (p.Ala728Thr) c.1613G>A n.977G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377703_44377707del | CA983996354 | ITGA2B | c.2178_2182del (p.Lys726AsnfsTer?) c.1609_1613del n.973_977del | gnomAD v3 gnomAD v4 |
17 | g.44377704G>A | CA8602804 | ITGA2B | c.2181C>T (p.Asn727=) c.1612C>T n.976C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377704G>C | CA399798838 | ITGA2B | c.2181C>G (p.Asn727Lys) c.1612C>G n.976C>G | |
17 | g.44377704G= | CA2261366865 | ITGA2B | c.2181C= (p.Asn727=) c.1612C= n.976C= | |
17 | g.44377704G>T | CA399798833 | ITGA2B | c.2181C>A (p.Asn727Lys) c.1612C>A n.976C>A | |
17 | g.44377704_44377707delinsGTTC | CA2261366866 | ITGA2B | c.2178_2181delinsGAAC (p.Lys726=) c.1609_1612delinsGAAC n.973_976delinsGAAC | |
17 | g.44377705T>A | CA399798842 | ITGA2B | c.2180A>T (p.Asn727Ile) c.1611A>T n.975A>T | |
17 | g.44377705T>C | CA399798843 | ITGA2B | c.2180A>G (p.Asn727Ser) c.1611A>G n.975A>G | |
17 | g.44377705T>G | CA399798845 | ITGA2B | c.2180A>C (p.Asn727Thr) c.1611A>C n.975A>C | |
17 | g.44377711_44377713del | CA2261366867 | ITGA2B | c.2178_2180del (p.Lys726del) c.1609_1611del n.973_975del | ClinVar dbSNP gnomAD v4 |
17 | g.44377706T>A | CA399798848 | ITGA2B | c.2179A>T (p.Asn727Tyr) c.1610A>T n.974A>T | |
17 | g.44377706T>C | CA8602805 | ITGA2B | c.2179A>G (p.Asn727Asp) c.1610A>G n.974A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44377706T>G | CA399798851 | ITGA2B | c.2179A>C (p.Asn727His) c.1610A>C n.974A>C | |
17 | g.44377706T= | CA2261366868 | ITGA2B | c.2179A= (p.Asn727=) c.1610A= n.974A= | |
17 | g.44377707C>A | CA399798856 | ITGA2B | c.2178G>T (p.Lys726Asn) c.1609G>T n.973G>T | |
17 | g.44377707C= | CA2261366869 | ITGA2B | c.2178G= (p.Lys726=) c.1609G= n.973G= | |
17 | g.44377707C>G | CA8602806 | ITGA2B | c.2178G>C (p.Lys726Asn) c.1609G>C n.973G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377707C>T | CA500267947 | ITGA2B | c.2178G>A (p.Lys726=) c.1609G>A n.973G>A | |
17 | g.44377708T>A | CA399798861 | ITGA2B | c.2177A>T (p.Lys726Met) c.1608A>T n.972A>T | gnomAD v3 gnomAD v4 |
17 | g.44377708T>C | CA399798863 | ITGA2B | c.2177A>G (p.Lys726Arg) c.1608A>G n.972A>G | |
17 | g.44377708T>G | CA399798866 | ITGA2B | c.2177A>C (p.Lys726Thr) c.1608A>C n.972A>C | |
17 | g.44377709T>A | CA399798867 | ITGA2B | c.2176A>T (p.Lys726Ter) c.1607A>T n.971A>T | ClinVar dbSNP gnomAD v4 |
17 | g.44377709T>C | CA399798868 | ITGA2B | c.2176A>G (p.Lys726Glu) c.1607A>G n.971A>G | |
17 | g.44377709T>G | CA399798869 | ITGA2B | c.2176A>C (p.Lys726Gln) c.1607A>C n.971A>C | |
17 | g.44377709T= | CA2261366870 | ITGA2B | c.2176A= (p.Lys726=) c.1607A= n.971A= | |
17 | g.44377710C>A | CA399798871 | ITGA2B | c.2175G>T (p.Lys725Asn) c.1606G>T n.970G>T | |
17 | g.44377710C= | CA2261366871 | ITGA2B | c.2175G= (p.Lys725=) c.1606G= n.970G= | |
17 | g.44377710C>G | CA399798873 | ITGA2B | c.2175G>C (p.Lys725Asn) c.1606G>C n.970G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377710C>T | CA500267962 | ITGA2B | c.2175G>A (p.Lys725=) c.1606G>A n.970G>A | dbSNP |
17 | g.44377711T>A | CA399798875 | ITGA2B | c.2174A>T (p.Lys725Met) c.1605A>T n.969A>T | |
17 | g.44377711T>C | CA399798877 | ITGA2B | c.2174A>G (p.Lys725Arg) c.1605A>G n.969A>G | |
17 | g.44377711T>G | CA399798880 | ITGA2B | c.2174A>C (p.Lys725Thr) c.1605A>C n.969A>C | |
17 | g.44377712del | CA2573153936 | ITGA2B | c.2174del (p.Lys725ArgfsTer6) c.1605del n.969del | ClinVar dbSNP |
17 | g.44377712T>A | CA399798883 | ITGA2B | c.2173A>T (p.Lys725Ter) c.1604A>T n.968A>T | gnomAD v3 gnomAD v4 |
17 | g.44377712T>C | CA399798885 | ITGA2B | c.2173A>G (p.Lys725Glu) c.1604A>G n.968A>G | |
17 | g.44377712T>G | CA399798887 | ITGA2B | c.2173A>C (p.Lys725Gln) c.1604A>C n.968A>C | |
17 | g.44377713C>A | CA399798890 | ITGA2B | c.2172G>T (p.Met724Ile) c.1603G>T n.967G>T | |
17 | g.44377713C>G | CA399798891 | ITGA2B | c.2172G>C (p.Met724Ile) c.1603G>C n.967G>C | |
17 | g.44377713C>T | CA399798895 | ITGA2B | c.2172G>A (p.Met724Ile) c.1603G>A n.967G>A | ClinVar dbSNP |
17 | g.44377714A= | CA2261366872 | ITGA2B | c.2171T= (p.Met724=) c.1602T= n.966T= | |
17 | g.44377714A>C | CA399798897 | ITGA2B | c.2171T>G (p.Met724Arg) c.1602T>G n.966T>G | |
17 | g.44377714A>G | CA399798899 | ITGA2B | c.2171T>C (p.Met724Thr) c.1602T>C n.966T>C | |
17 | g.44377714A>T | CA399798901 | ITGA2B | c.2171T>A (p.Met724Lys) c.1602T>A n.966T>A | dbSNP |
17 | g.44377715T>A | CA399798904 | ITGA2B | c.2170A>T (p.Met724Leu) c.1601A>T n.965A>T | |
17 | g.44377715T>C | CA399798908 | ITGA2B | c.2170A>G (p.Met724Val) c.1601A>G n.965A>G | |
17 | g.44377715T>G | CA399798906 | ITGA2B | c.2170A>C (p.Met724Leu) c.1601A>C n.965A>C | |
17 | g.44377715_44377723del | CA983996367 | ITGA2B | c.2162_2170del (p.Gly721_Met724delinsVal) c.1593_1601del n.957_965del | gnomAD v3 gnomAD v4 |
17 | g.44377716G>A | CA500267995 | ITGA2B | c.2169C>T (p.Pro723=) c.1600C>T n.964C>T | |
17 | g.44377716G>C | CA500267998 | ITGA2B | c.2169C>G (p.Pro723=) c.1600C>G n.964C>G | |
17 | g.44377716G>T | CA500268000 | ITGA2B | c.2169C>A (p.Pro723=) c.1600C>A n.964C>A | gnomAD v4 |
17 | g.44377719dup | CA2695238902 | ITGA2B | c.2169dup (p.Met724HisfsTer?) c.1600dup n.964dup | |
17 | g.44377719del | CA2573153938 | ITGA2B | c.2169del (p.Met724Ter) c.1600del n.964del | ClinVar dbSNP |
17 | g.44377717G>A | CA399798911 | ITGA2B | c.2168C>T (p.Pro723Leu) c.1599C>T n.963C>T | |
17 | g.44377717G>C | CA399798914 | ITGA2B | c.2168C>G (p.Pro723Arg) c.1599C>G n.963C>G | |
17 | g.44377717G>T | CA399798912 | ITGA2B | c.2168C>A (p.Pro723His) c.1599C>A n.963C>A | |
17 | g.44377718G>A | CA8602807 | ITGA2B | c.2167C>T (p.Pro723Ser) c.1598C>T n.962C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377718G>C | CA399798917 | ITGA2B | c.2167C>G (p.Pro723Ala) c.1598C>G n.962C>G | dbSNP |
17 | g.44377718G= | CA2261366873 | ITGA2B | c.2167C= (p.Pro723=) c.1598C= n.962C= | |
17 | g.44377718G>T | CA399798918 | ITGA2B | c.2167C>A (p.Pro723Thr) c.1598C>A n.962C>A | |
17 | g.44377719G>A | CA8602808 | ITGA2B | c.2166C>T (p.Asn722=) c.1597C>T n.961C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377719G>C | CA399798922 | ITGA2B | c.2166C>G (p.Asn722Lys) c.1597C>G n.961C>G | |
17 | g.44377719G= | CA2261366874 | ITGA2B | c.2166C= (p.Asn722=) c.1597C= n.961C= | |
17 | g.44377719G>T | CA399798924 | ITGA2B | c.2166C>A (p.Asn722Lys) c.1597C>A n.961C>A | gnomAD v4 |
17 | g.44377720T>A | CA399798927 | ITGA2B | c.2165A>T (p.Asn722Ile) c.1596A>T n.960A>T | |
17 | g.44377720T>C | CA399798929 | ITGA2B | c.2165A>G (p.Asn722Ser) c.1596A>G n.960A>G | |
17 | g.44377720T>G | CA399798931 | ITGA2B | c.2165A>C (p.Asn722Thr) c.1596A>C n.960A>C | |
17 | g.44377721T>A | CA399798934 | ITGA2B | c.2164A>T (p.Asn722Tyr) c.1595A>T n.959A>T | |
17 | g.44377721T>C | CA399798936 | ITGA2B | c.2164A>G (p.Asn722Asp) c.1595A>G n.959A>G | |
17 | g.44377721T>G | CA399798938 | ITGA2B | c.2164A>C (p.Asn722His) c.1595A>C n.959A>C | |
17 | g.44377722G>A | CA500268017 | ITGA2B | c.2163C>T (p.Gly721=) c.1594C>T n.958C>T | |
17 | g.44377722G>C | CA500268019 | ITGA2B | c.2163C>G (p.Gly721=) c.1594C>G n.958C>G | dbSNP |
17 | g.44377722G>T | CA500268022 | ITGA2B | c.2163C>A (p.Gly721=) c.1594C>A n.958C>A | |
17 | g.44377723C>A | CA399798943 | ITGA2B | c.2162G>T (p.Gly721Val) c.1593G>T n.957G>T | |
17 | g.44377723C>G | CA399798941 | ITGA2B | c.2162G>C (p.Gly721Ala) c.1593G>C n.957G>C | |
17 | g.44377723C>T | CA399798942 | ITGA2B | c.2162G>A (p.Gly721Asp) c.1593G>A n.957G>A | gnomAD v4 COSMIC |
17 | g.44377724C>A | CA399798946 | ITGA2B | c.2161G>T (p.Gly721Cys) c.1592G>T n.956G>T | dbSNP |
17 | g.44377724C= | CA2261366875 | ITGA2B | c.2161G= (p.Gly721=) c.1592G= n.956G= | |
17 | g.44377724C>G | CA399798947 | ITGA2B | c.2161G>C (p.Gly721Arg) c.1592G>C n.956G>C | |
17 | g.44377724C>T | CA399798950 | ITGA2B | c.2161G>A (p.Gly721Ser) c.1592G>A n.956G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377725C>A | CA500268035 | ITGA2B | c.2160G>T (p.Leu720=) c.1591G>T n.955G>T | gnomAD v4 |
17 | g.44377725C>G | CA500268038 | ITGA2B | c.2160G>C (p.Leu720=) c.1591G>C n.955G>C | |
17 | g.44377725C>T | CA500268041 | ITGA2B | c.2160G>A (p.Leu720=) c.1591G>A n.955G>A | |
17 | g.44377726A= | CA2261366876 | ITGA2B | c.2159T= (p.Leu720=) c.1590T= n.954T= | |
17 | g.44377726A>C | CA399798954 | ITGA2B | c.2159T>G (p.Leu720Arg) c.1590T>G n.954T>G | |
17 | g.44377726A>G | CA399798955 | ITGA2B | c.2159T>C (p.Leu720Pro) c.1590T>C n.954T>C | ClinVar dbSNP |
17 | g.44377726A>T | CA399798956 | ITGA2B | c.2159T>A (p.Leu720Gln) c.1590T>A n.954T>A | |
17 | g.44377727G>A | CA500268063 | ITGA2B | c.2158C>T (p.Leu720=) c.1589C>T n.953C>T | |
17 | g.44377727G>C | CA399798959 | ITGA2B | c.2158C>G (p.Leu720Val) c.1589C>G n.953C>G | |
17 | g.44377727G= | CA2261366877 | ITGA2B | c.2158C= (p.Leu720=) c.1589C= n.953C= | |
17 | g.44377727G>T | CA399798961 | ITGA2B | c.2158C>A (p.Leu720Met) c.1589C>A n.953C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377728C>A | CA399798963 | ITGA2B | c.2157G>T (p.Glu719Asp) c.1588G>T n.952G>T | |
17 | g.44377728C>G | CA399798966 | ITGA2B | c.2157G>C (p.Glu719Asp) c.1588G>C n.952G>C | |
17 | g.44377728C>T | CA500268080 | ITGA2B | c.2157G>A (p.Glu719=) c.1588G>A n.952G>A | |
17 | g.44377729T>A | CA399798973 | ITGA2B | c.2156A>T (p.Glu719Val) c.1587A>T n.951A>T | |
17 | g.44377729T>C | CA399798971 | ITGA2B | c.2156A>G (p.Glu719Gly) c.1587A>G n.951A>G | |
17 | g.44377729T>G | CA399798969 | ITGA2B | c.2156A>C (p.Glu719Ala) c.1587A>C n.951A>C | COSMIC |
17 | g.44377730C>A | CA399798976 | ITGA2B | c.2155G>T (p.Glu719Ter) c.1586G>T n.950G>T | COSMIC |
17 | g.44377730C>G | CA399798978 | ITGA2B | c.2155G>C (p.Glu719Gln) c.1586G>C n.950G>C | |
17 | g.44377730C>T | CA399798980 | ITGA2B | c.2155G>A (p.Glu719Lys) c.1586G>A n.950G>A | |
17 | g.44377731A= | CA2261366878 | ITGA2B | c.2154T= (p.Cys718=) c.1585T= n.949T= | |
17 | g.44377731A>C | CA399798982 | ITGA2B | c.2154T>G (p.Cys718Trp) c.1585T>G n.949T>G | |
17 | g.44377731A>G | CA500268101 | ITGA2B | c.2154T>C (p.Cys718=) c.1585T>C n.949T>C | |
17 | g.44377731A>T | CA399798984 | ITGA2B | c.2154T>A (p.Cys718Ter) c.1585T>A n.949T>A | |
17 | g.44377732C>A | CA399798987 | ITGA2B | c.2153G>T (p.Cys718Phe) c.1584G>T n.948G>T | |
17 | g.44377732C>G | CA399798989 | ITGA2B | c.2153G>C (p.Cys718Ser) c.1584G>C n.948G>C | |
17 | g.44377732C>T | CA399798990 | ITGA2B | c.2153G>A (p.Cys718Tyr) c.1584G>A n.948G>A | |
17 | g.44377732dup | CA913189170 | ITGA2B | c.2153dup (p.Cys718TrpfsTer2) c.1584dup n.948dup | ClinVar dbSNP |
17 | g.44377733A>C | CA399798993 | ITGA2B | c.2152T>G (p.Cys718Gly) c.1583T>G n.947T>G | |
17 | g.44377733A>G | CA399798994 | ITGA2B | c.2152T>C (p.Cys718Arg) c.1583T>C n.947T>C | |
17 | g.44377733A>T | CA399798996 | ITGA2B | c.2152T>A (p.Cys718Ser) c.1583T>A n.947T>A | |
17 | g.44377734C>A | CA500268112 | ITGA2B | c.2151G>T (p.Leu717=) c.1582G>T n.946G>T | |
17 | g.44377734C= | CA2261366879 | ITGA2B | c.2151G= (p.Leu717=) c.1582G= n.946G= | |
17 | g.44377734C>G | CA500268113 | ITGA2B | c.2151G>C (p.Leu717=) c.1582G>C n.946G>C | |
17 | g.44377734C>T | CA8602809 | ITGA2B | c.2151G>A (p.Leu717=) c.1582G>A n.946G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44377735A>C | CA399799006 | ITGA2B | c.2150T>G (p.Leu717Arg) c.1581T>G n.945T>G | |
17 | g.44377735A>G | CA399799004 | ITGA2B | c.2150T>C (p.Leu717Pro) c.1581T>C n.945T>C | ClinVar dbSNP |
17 | g.44377735A>T | CA399799001 | ITGA2B | c.2150T>A (p.Leu717Gln) c.1581T>A n.945T>A | |
17 | g.44377736G>A | CA500268126 | ITGA2B | c.2149C>T (p.Leu717=) c.1580C>T n.944C>T | |
17 | g.44377736G>C | CA399799008 | ITGA2B | c.2149C>G (p.Leu717Val) c.1580C>G n.944C>G | |
17 | g.44377736G= | CA2261366880 | ITGA2B | c.2149C= (p.Leu717=) c.1580C= n.944C= | |
17 | g.44377736G>T | CA399799009 | ITGA2B | c.2149C>A (p.Leu717Met) c.1580C>A n.944C>A | |
17 | g.44377737C>A | CA500268128 | ITGA2B | c.2148G>T (p.Val716=) c.1579G>T n.943G>T | gnomAD v4 |
17 | g.44377737C= | CA2261366881 | ITGA2B | c.2148G= (p.Val716=) c.1579G= n.943G= | |
17 | g.44377737C>G | CA500268131 | ITGA2B | c.2148G>C (p.Val716=) c.1579G>C n.943G>C | |
17 | g.44377737C>T | CA8602810 | ITGA2B | c.2148G>A (p.Val716=) c.1579G>A n.943G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44377737dup | CA915940304 | ITGA2B | c.2148dup (p.Leu717AlafsTer3) c.1579dup n.943dup | ClinVar dbSNP |
17 | g.44377738A>C | CA399799014 | ITGA2B | c.2147T>G (p.Val716Gly) c.1578T>G n.942T>G | |
17 | g.44377738A>G | CA399799015 | ITGA2B | c.2147T>C (p.Val716Ala) c.1578T>C n.942T>C | |
17 | g.44377738A>T | CA399799016 | ITGA2B | c.2147T>A (p.Val716Glu) c.1578T>A n.942T>A | |
17 | g.44377739C>A | CA399799019 | ITGA2B | c.2146G>T (p.Val716Leu) c.1577G>T n.941G>T | |
17 | g.44377739C>G | CA399799021 | ITGA2B | c.2146G>C (p.Val716Leu) c.1577G>C n.941G>C | |
17 | g.44377739C>T | CA399799023 | ITGA2B | c.2146G>A (p.Val716Met) c.1577G>A n.941G>A | |
17 | g.44377740C>A | CA500268145 | ITGA2B | c.2145G>T (p.Val715=) c.1576G>T n.940G>T | gnomAD v4 |
17 | g.44377740C>G | CA500268149 | ITGA2B | c.2145G>C (p.Val715=) c.1576G>C n.940G>C | |
17 | g.44377740C>T | CA500268152 | ITGA2B | c.2145G>A (p.Val715=) c.1576G>A n.940G>A | |
17 | g.44377741A>C | CA399799025 | ITGA2B | c.2144T>G (p.Val715Gly) c.1575T>G n.939T>G | |
17 | g.44377741A>G | CA399799027 | ITGA2B | c.2144T>C (p.Val715Ala) c.1575T>C n.939T>C | |
17 | g.44377741A>T | CA399799029 | ITGA2B | c.2144T>A (p.Val715Glu) c.1575T>A n.939T>A | |
17 | g.44377742C>A | CA399799041 | ITGA2B | c.2143G>T (p.Val715Leu) c.1574G>T n.938G>T | gnomAD v4 |
17 | g.44377742C= | CA2261366882 | ITGA2B | c.2143G= (p.Val715=) c.1574G= n.938G= | |
17 | g.44377742C>G | CA399799033 | ITGA2B | c.2143G>C (p.Val715Leu) c.1574G>C n.938G>C | |
17 | g.44377742C>T | CA290948377 | ITGA2B | c.2143G>A (p.Val715Met) c.1574G>A n.938G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44377743C>A | CA8602811 | ITGA2B | c.2142G>T (p.Arg714Ser) c.1573G>T n.937G>T | dbSNP ExAC gnomAD v2 |
17 | g.44377743C= | CA2261366883 | ITGA2B | c.2142G= (p.Arg714=) c.1573G= n.937G= | |
17 | g.44377743C>G | CA399799044 | ITGA2B | c.2142G>C (p.Arg714Ser) c.1573G>C n.937G>C | |
17 | g.44377743C>T | CA500268165 | ITGA2B | c.2142G>A (p.Arg714=) c.1573G>A n.937G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.44377744C>A | CA399799047 | ITGA2B | c.2141G>T (p.Arg714Met) c.1572G>T n.936G>T | |
17 | g.44377744C= | CA2261366884 | ITGA2B | c.2141G= (p.Arg714=) c.1572G= n.936G= | |
17 | g.44377744C>G | CA8602812 | ITGA2B | c.2141G>C (p.Arg714Thr) c.1572G>C n.936G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44377744C>T | CA399799049 | ITGA2B | c.2141G>A (p.Arg714Lys) c.1572G>A n.936G>A | |
17 | g.44377745T>A | CA399799052 | ITGA2B | c.2140A>T (p.Arg714Trp) c.1571A>T n.935A>T | |
17 | g.44377745T>C | CA399799054 | ITGA2B | c.2140A>G (p.Arg714Gly) c.1571A>G n.935A>G | |
17 | g.44377745T>G | CA500268174 | ITGA2B | c.2140A>C (p.Arg714=) c.1571A>C n.935A>C | |
17 | g.44377746G>A | CA500268180 | ITGA2B | c.2139C>T (p.Thr713=) c.1570C>T n.934C>T | ClinVar dbSNP gnomAD v4 |
17 | g.44377746G>C | CA500268183 | ITGA2B | c.2139C>G (p.Thr713=) c.1570C>G n.934C>G | |
17 | g.44377746G= | CA2261366885 | ITGA2B | c.2139C= (p.Thr713=) c.1570C= n.934C= | |
17 | g.44377746G>T | CA500268177 | ITGA2B | c.2139C>A (p.Thr713=) c.1570C>A n.934C>A | |
17 | g.44377747G>A | CA399799056 | ITGA2B | c.2138C>T (p.Thr713Ile) c.1569C>T n.933C>T | COSMIC |
17 | g.44377747G>C | CA399799058 | ITGA2B | c.2138C>G (p.Thr713Ser) c.1569C>G n.933C>G | |
17 | g.44377747G>T | CA399799060 | ITGA2B | c.2138C>A (p.Thr713Asn) c.1569C>A n.933C>A | |
17 | g.44377748T>A | CA399799062 | ITGA2B | c.2137A>T (p.Thr713Ser) c.1568A>T n.932A>T | |
17 | g.44377748T>C | CA399799064 | ITGA2B | c.2137A>G (p.Thr713Ala) c.1568A>G n.932A>G | |
17 | g.44377748T>G | CA399799066 | ITGA2B | c.2137A>C (p.Thr713Pro) c.1568A>C n.932A>C | |
17 | g.44377749C>A | CA399799068 | ITGA2B | c.2136G>T (p.Glu712Asp) c.1567G>T n.931G>T | |
17 | g.44377749C>G | CA399799070 | ITGA2B | c.2136G>C (p.Glu712Asp) c.1567G>C n.931G>C | |
17 | g.44377749C>T | CA500268205 | ITGA2B | c.2136G>A (p.Glu712=) c.1567G>A n.931G>A | |
17 | g.44377750T>A | CA399799072 | ITGA2B | c.2135A>T (p.Glu712Val) c.1566A>T n.930A>T | |
17 | g.44377750T>C | CA399799074 | ITGA2B | c.2135A>G (p.Glu712Gly) c.1566A>G n.930A>G | |
17 | g.44377750T>G | CA399799075 | ITGA2B | c.2135A>C (p.Glu712Ala) c.1566A>C n.930A>C | |
17 | g.44377751C>A | CA399799078 | ITGA2B | c.2134G>T (p.Glu712Ter) c.1565G>T n.929G>T | |
17 | g.44377751C= | CA2261366886 | ITGA2B | c.2134G= (p.Glu712=) c.1565G= n.929G= | |
17 | g.44377751C>G | CA399799081 | ITGA2B | c.2134G>C (p.Glu712Gln) c.1565G>C n.929G>C | |
17 | g.44377751C>T | CA399799080 | ITGA2B | c.2134G>A (p.Glu712Lys) c.1565G>A n.929G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44377752A= | CA2261366887 | ITGA2B | c.2133T= (p.Asn711=) c.1564T= n.928T= | |
17 | g.44377752A>C | CA8602813 | ITGA2B | c.2133T>G (p.Asn711Lys) c.1564T>G n.928T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377752A>G | CA500268223 | ITGA2B | c.2133T>C (p.Asn711=) c.1564T>C n.928T>C | |
17 | g.44377752A>T | CA399799083 | ITGA2B | c.2133T>A (p.Asn711Lys) c.1564T>A n.928T>A | |
17 | g.44377753T>A | CA399799086 | ITGA2B | c.2132A>T (p.Asn711Ile) c.1563A>T n.927A>T | |
17 | g.44377753T>C | CA399799087 | ITGA2B | c.2132A>G (p.Asn711Ser) c.1563A>G n.927A>G | |
17 | g.44377753T>G | CA399799090 | ITGA2B | c.2132A>C (p.Asn711Thr) c.1563A>C n.927A>C | |
17 | g.44377754T>A | CA399799093 | ITGA2B | c.2131A>T (p.Asn711Tyr) c.1562A>T n.926A>T | |
17 | g.44377754T>C | CA399799094 | ITGA2B | c.2131A>G (p.Asn711Asp) c.1562A>G n.926A>G | |
17 | g.44377754T>G | CA399799097 | ITGA2B | c.2131A>C (p.Asn711His) c.1562A>C n.926A>C | |
17 | g.44377755C>A | CA399799099 | ITGA2B | c.2130G>T (p.Glu710Asp) c.1561G>T n.925G>T | |
17 | g.44377755C= | CA2261366888 | ITGA2B | c.2130G= (p.Glu710=) c.1561G= n.925G= | |
17 | g.44377755C>G | CA399799101 | ITGA2B | c.2130G>C (p.Glu710Asp) c.1561G>C n.925G>C | |
17 | g.44377755C>T | CA500268231 | ITGA2B | c.2130G>A (p.Glu710=) c.1561G>A n.925G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377756T>A | CA399799106 | ITGA2B | c.2129A>T (p.Glu710Val) c.1560A>T n.924A>T | |
17 | g.44377756T>C | CA399799105 | ITGA2B | c.2129A>G (p.Glu710Gly) c.1560A>G n.924A>G | |
17 | g.44377756T>G | CA399799104 | ITGA2B | c.2129A>C (p.Glu710Ala) c.1560A>C n.924A>C | |
17 | g.44377757C>A | CA399799107 | ITGA2B | c.2128G>T (p.Glu710Ter) c.1559G>T n.923G>T | |
17 | g.44377757C= | CA2261366889 | ITGA2B | c.2128G= (p.Glu710=) c.1559G= n.923G= | |
17 | g.44377757C>G | CA399799109 | ITGA2B | c.2128G>C (p.Glu710Gln) c.1559G>C n.923G>C | |
17 | g.44377757C>T | CA399799111 | ITGA2B | c.2128G>A (p.Glu710Lys) c.1559G>A n.923G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377757_44377760delinsCCTT | CA2261366890 | ITGA2B | c.2125_2128delinsAAGG (p.Lys709=) c.1556_1559delinsAAGG n.920_923delinsAAGG | |
17 | g.44377758C>A | CA399799115 | ITGA2B | c.2127G>T (p.Lys709Asn) c.1558G>T n.922G>T | |
17 | g.44377758C= | CA2261366891 | ITGA2B | c.2127G= (p.Lys709=) c.1558G= n.922G= | |
17 | g.44377758C>G | CA399799116 | ITGA2B | c.2127G>C (p.Lys709Asn) c.1558G>C n.922G>C | |
17 | g.44377758C>T | CA8602814 | ITGA2B | c.2127G>A (p.Lys709=) c.1558G>A n.922G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377763_44377765del | CA500268245 | ITGA2B | c.2125_2127del (p.Lys709del) c.1556_1558del n.920_922del | dbSNP gnomAD v4 |
17 | g.44377759T>A | CA399799122 | ITGA2B | c.2126A>T (p.Lys709Met) c.1557A>T n.921A>T | |
17 | g.44377759T>C | CA399799119 | ITGA2B | c.2126A>G (p.Lys709Arg) c.1557A>G n.921A>G | |
17 | g.44377759T>G | CA399799120 | ITGA2B | c.2126A>C (p.Lys709Thr) c.1557A>C n.921A>C | |
17 | g.44377760T>A | CA399799125 | ITGA2B | c.2125A>T (p.Lys709Ter) c.1556A>T n.920A>T | |
17 | g.44377760T>C | CA399799126 | ITGA2B | c.2125A>G (p.Lys709Glu) c.1556A>G n.920A>G | gnomAD v4 |
17 | g.44377760T>G | CA399799128 | ITGA2B | c.2125A>C (p.Lys709Gln) c.1556A>C n.920A>C | |
17 | g.44377761C>A | CA399799130 | ITGA2B | c.2124G>T (p.Lys708Asn) c.1555G>T n.919G>T | |
17 | g.44377761C= | CA2261366892 | ITGA2B | c.2124G= (p.Lys708=) c.1555G= n.919G= | |
17 | g.44377761C>G | CA399799132 | ITGA2B | c.2124G>C (p.Lys708Asn) c.1555G>C n.919G>C | dbSNP |
17 | g.44377761C>T | CA500268256 | ITGA2B | c.2124G>A (p.Lys708=) c.1555G>A n.919G>A | |
17 | g.44377762T>A | CA399799135 | ITGA2B | c.2123A>T (p.Lys708Met) c.1554A>T n.918A>T | |
17 | g.44377762T>C | CA399799138 | ITGA2B | c.2123A>G (p.Lys708Arg) c.1554A>G n.918A>G | |
17 | g.44377762T>G | CA399799136 | ITGA2B | c.2123A>C (p.Lys708Thr) c.1554A>C n.918A>C | |
17 | g.44377763T>A | CA399799141 | ITGA2B | c.2122A>T (p.Lys708Ter) c.1553A>T n.917A>T | |
17 | g.44377763T>C | CA399799143 | ITGA2B | c.2122A>G (p.Lys708Glu) c.1553A>G n.917A>G | |
17 | g.44377763T>G | CA8602815 | ITGA2B | c.2122A>C (p.Lys708Gln) c.1553A>C n.917A>C | dbSNP ExAC gnomAD v2 |
17 | g.44377763T= | CA2261366893 | ITGA2B | c.2122A= (p.Lys708=) c.1553A= n.917A= | |
17 | g.44377764C>A | CA399799147 | ITGA2B | c.2121G>T (p.Gln707His) c.1552G>T n.916G>T | |
17 | g.44377764C>G | CA399799148 | ITGA2B | c.2121G>C (p.Gln707His) c.1552G>C n.916G>C | |
17 | g.44377764C>T | CA500268279 | ITGA2B | c.2121G>A (p.Gln707=) c.1552G>A n.916G>A | |
17 | g.44377765T>A | CA399799153 | ITGA2B | c.2120A>T (p.Gln707Leu) c.1551A>T n.915A>T | |
17 | g.44377765T>C | CA399799164 | ITGA2B | c.2120A>G (p.Gln707Arg) c.1551A>G n.915A>G | |
17 | g.44377765T>G | CA399799166 | ITGA2B | c.2120A>C (p.Gln707Pro) c.1551A>C n.915A>C | |
17 | g.44377766G>A | CA399799169 | ITGA2B | c.2119C>T (p.Gln707Ter) c.1550C>T n.914C>T | gnomAD v4 |
17 | g.44377766G>C | CA399799172 | ITGA2B | c.2119C>G (p.Gln707Glu) c.1550C>G n.914C>G | |
17 | g.44377766G>T | CA399799174 | ITGA2B | c.2119C>A (p.Gln707Lys) c.1550C>A n.914C>A | |
17 | g.44377767A= | CA2261366894 | ITGA2B | c.2118T= (p.Asn706=) c.1549T= n.913T= | |
17 | g.44377767A>C | CA399799176 | ITGA2B | c.2118T>G (p.Asn706Lys) c.1549T>G n.913T>G | |
17 | g.44377767A>G | CA500268303 | ITGA2B | c.2118T>C (p.Asn706=) c.1549T>C n.913T>C | |
17 | g.44377767A>T | CA399799178 | ITGA2B | c.2118T>A (p.Asn706Lys) c.1549T>A n.913T>A | dbSNP |
17 | g.44377768T>A | CA399799181 | ITGA2B | c.2117A>T (p.Asn706Ile) c.1548A>T n.912A>T | |
17 | g.44377768T>C | CA399799183 | ITGA2B | c.2117A>G (p.Asn706Ser) c.1548A>G n.912A>G | |
17 | g.44377768T>G | CA399799185 | ITGA2B | c.2117A>C (p.Asn706Thr) c.1548A>C n.912A>C | |
17 | g.44377769T>A | CA399799187 | ITGA2B | c.2116A>T (p.Asn706Tyr) c.1547A>T n.911A>T | |
17 | g.44377769T>C | CA399799189 | ITGA2B | c.2116A>G (p.Asn706Asp) c.1547A>G n.911A>G | |
17 | g.44377769T>G | CA399799192 | ITGA2B | c.2116A>C (p.Asn706His) c.1547A>C n.911A>C | |
17 | g.44377770A>C | CA399799195 | ITGA2B | c.2115T>G (p.Cys705Trp) c.1546T>G n.910T>G | |
17 | g.44377770A>G | CA500268320 | ITGA2B | c.2115T>C (p.Cys705=) c.1546T>C n.910T>C | |
17 | g.44377770A>T | CA399799198 | ITGA2B | c.2115T>A (p.Cys705Ter) c.1546T>A n.910T>A | |
17 | g.44377771C>A | CA399799201 | ITGA2B | c.2114G>T (p.Cys705Phe) c.1545G>T n.909G>T | |
17 | g.44377771C>G | CA399799203 | ITGA2B | c.2114G>C (p.Cys705Ser) c.1545G>C n.909G>C | |
17 | g.44377771C>T | CA399799206 | ITGA2B | c.2114G>A (p.Cys705Tyr) c.1545G>A n.909G>A | |
17 | g.44377772del | CA915940833 | ITGA2B | c.2113del (p.Cys705ValfsTer20) c.1544del n.908del | |
17 | g.44377772A= | CA2261366895 | ITGA2B | c.2113T= (p.Cys705=) c.1544T= n.908T= | |
17 | g.44377772A>C | CA399799217 | ITGA2B | c.2113T>G (p.Cys705Gly) c.1544T>G n.908T>G | |
17 | g.44377772A>G | CA8602816 | ITGA2B | c.2113T>C (p.Cys705Arg) c.1544T>C n.908T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44377772A>T | CA399799220 | ITGA2B | c.2113T>A (p.Cys705Ser) c.1544T>A n.908T>A | |
17 | g.44377772_44377773delinsAG | CA2261366896 | ITGA2B | c.2112_2113delinsCT (p.Ile704=) c.1543_1544delinsCT n.907_908delinsCT | |
17 | g.44377773del | CA8602817 | ITGA2B | c.2112del (p.Cys705ValfsTer20) c.1543del n.907del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44377773G>A | CA500268338 | ITGA2B | c.2112C>T (p.Ile704=) c.1543C>T n.907C>T | |
17 | g.44377773G>C | CA399799225 | ITGA2B | c.2112C>G (p.Ile704Met) c.1543C>G n.907C>G | |
17 | g.44377773G>T | CA500268350 | ITGA2B | c.2112C>A (p.Ile704=) c.1543C>A n.907C>A | COSMIC |
17 | g.44377774A= | CA2261366897 | ITGA2B | c.2111T= (p.Ile704=) c.1542T= n.906T= | |
17 | g.44377774A>C | CA399799229 | ITGA2B | c.2111T>G (p.Ile704Ser) c.1542T>G n.906T>G | |
17 | g.44377774A>G | CA399799231 | ITGA2B | c.2111T>C (p.Ile704Thr) c.1542T>C n.906T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44377774A>T | CA399799232 | ITGA2B | c.2111T>A (p.Ile704Asn) c.1542T>A n.906T>A | |
17 | g.44377775T>A | CA399799233 | ITGA2B | c.2110A>T (p.Ile704Phe) c.1541A>T n.905A>T | |
17 | g.44377775T>C | CA399799235 | ITGA2B | c.2110A>G (p.Ile704Val) c.1541A>G n.905A>G | |
17 | g.44377775T>G | CA399799237 | ITGA2B | c.2110A>C (p.Ile704Leu) c.1541A>C n.905A>C | |
17 | g.44377776G>A | CA500268363 | ITGA2B | c.2109C>T (p.Leu703=) c.1540C>T n.904C>T | |
17 | g.44377776G>C | CA500268369 | ITGA2B | c.2109C>G (p.Leu703=) c.1540C>G n.904C>G | |
17 | g.44377776G>T | CA500268373 | ITGA2B | c.2109C>A (p.Leu703=) c.1540C>A n.904C>A | |
17 | g.44377777del | CA2576291258 | ITGA2B | c.2108del (p.Leu703ProfsTer22) c.1539del n.903del | gnomAD v4 |
17 | g.44377777A>C | CA399799246 | ITGA2B | c.2108T>G (p.Leu703Arg) c.1539T>G n.903T>G | |
17 | g.44377777A>G | CA399799242 | ITGA2B | c.2108T>C (p.Leu703Pro) c.1539T>C n.903T>C | |
17 | g.44377777A>T | CA399799245 | ITGA2B | c.2108T>A (p.Leu703His) c.1539T>A n.903T>A | |
17 | g.44377778G>A | CA399799254 | ITGA2B | c.2107C>T (p.Leu703Phe) c.1538C>T n.902C>T | gnomAD v4 |
17 | g.44377778G>C | CA399799255 | ITGA2B | c.2107C>G (p.Leu703Val) c.1538C>G n.902C>G | |
17 | g.44377778G>T | CA399799256 | ITGA2B | c.2107C>A (p.Leu703Ile) c.1538C>A n.902C>A |