Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.18543105T>A | CA408364123 | SEC23B | c.1598T>A (p.Val533Glu) c.1544T>A (p.Val515Glu) c.122T>A (p.Val41Glu) | |
20 | g.18543105T>C | CA408364122 | SEC23B | c.1598T>C (p.Val533Ala) c.1544T>C (p.Val515Ala) c.122T>C (p.Val41Ala) | |
20 | g.18543105T>G | CA408364121 | SEC23B | c.1598T>G (p.Val533Gly) c.1544T>G (p.Val515Gly) c.122T>G (p.Val41Gly) | dbSNP gnomAD v2 |
20 | g.18543105T= | CA2353564550 | SEC23B | c.1598T= (p.Val533=) c.1544T= (p.Val515=) c.122T= (p.Val41=) | |
20 | g.18543106G>A | CA509829332 | SEC23B | c.1599G>A (p.Val533=) c.1545G>A (p.Val515=) c.123G>A (p.Val41=) | gnomAD v4 |
20 | g.18543106G>C | CA509829333 | SEC23B | c.1599G>C (p.Val533=) c.1545G>C (p.Val515=) c.123G>C (p.Val41=) | |
20 | g.18543106G>T | CA509829334 | SEC23B | c.1599G>T (p.Val533=) c.1545G>T (p.Val515=) c.123G>T (p.Val41=) | gnomAD v4 COSMIC |
20 | g.18543107T>A | CA408364124 | SEC23B | c.1600T>A (p.Phe534Ile) c.1546T>A (p.Phe516Ile) c.124T>A (p.Phe42Ile) | |
20 | g.18543107T>C | CA408364125 | SEC23B | c.1600T>C (p.Phe534Leu) c.1546T>C (p.Phe516Leu) c.124T>C (p.Phe42Leu) | COSMIC |
20 | g.18543107T>G | CA408364126 | SEC23B | c.1600T>G (p.Phe534Val) c.1546T>G (p.Phe516Val) c.124T>G (p.Phe42Val) | |
20 | g.18543108T>A | CA408364127 | SEC23B | c.1601T>A (p.Phe534Tyr) c.1547T>A (p.Phe516Tyr) c.125T>A (p.Phe42Tyr) | |
20 | g.18543108T>C | CA408364128 | SEC23B | c.1601T>C (p.Phe534Ser) c.1547T>C (p.Phe516Ser) c.125T>C (p.Phe42Ser) | |
20 | g.18543108T>G | CA408364129 | SEC23B | c.1601T>G (p.Phe534Cys) c.1547T>G (p.Phe516Cys) c.125T>G (p.Phe42Cys) | |
20 | g.18543109C>A | CA408364130 | SEC23B | c.1602C>A (p.Phe534Leu) c.1548C>A (p.Phe516Leu) c.126C>A (p.Phe42Leu) | |
20 | g.18543109C= | CA2353564551 | SEC23B | c.1602C= (p.Phe534=) c.1548C= (p.Phe516=) c.126C= (p.Phe42=) | |
20 | g.18543109C>G | CA312406964 | SEC23B | c.1602C>G (p.Phe534Leu) c.1548C>G (p.Phe516Leu) c.126C>G (p.Phe42Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.18543109C>T | CA509829336 | SEC23B | c.1602C>T (p.Phe534=) c.1548C>T (p.Phe516=) c.126C>T (p.Phe42=) | dbSNP |
20 | g.18543110del | CA2695229331 | SEC23B | c.1603del (p.Arg535GlufsTer?) c.1549del (p.Arg517GlufsTer?) c.127del (p.Arg43GlufsTer?) | |
20 | g.18543110C>A | CA509829337 | SEC23B | c.1603C>A (p.Arg535=) c.1549C>A (p.Arg517=) c.127C>A (p.Arg43=) | |
20 | g.18543110C= | CA2353564552 | SEC23B | c.1603C= (p.Arg535=) c.1549C= (p.Arg517=) c.127C= (p.Arg43=) | |
20 | g.18543110C>G | CA408364131 | SEC23B | c.1603C>G (p.Arg535Gly) c.1549C>G (p.Arg517Gly) c.127C>G (p.Arg43Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543110C>T | CA9778417 | SEC23B | c.1603C>T (p.Arg535Ter) c.1549C>T (p.Arg517Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543111G>A | CA9778419 | SEC23B | c.1604G>A (p.Arg535Gln) c.1550G>A (p.Arg517Gln) c.128G>A (p.Arg43Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543111G>C | CA408364132 | SEC23B | c.1604G>C (p.Arg535Pro) c.1550G>C (p.Arg517Pro) c.128G>C (p.Arg43Pro) | |
20 | g.18543111G= | CA2353564553 | SEC23B | c.1604G= (p.Arg535=) c.1550G= (p.Arg517=) c.128G= (p.Arg43=) | |
20 | g.18543111G>T | CA9778418 | SEC23B | c.1604G>T (p.Arg535Leu) c.1550G>T (p.Arg517Leu) c.128G>T (p.Arg43Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543112A>C | CA509829340 | SEC23B | c.1605A>C (p.Arg535=) c.1551A>C (p.Arg517=) c.129A>C (p.Arg43=) | |
20 | g.18543112A>G | CA509829341 | SEC23B | c.1605A>G (p.Arg535=) c.1551A>G (p.Arg517=) c.129A>G (p.Arg43=) | gnomAD v4 |
20 | g.18543112A>T | CA509829342 | SEC23B | c.1605A>T (p.Arg535=) c.1551A>T (p.Arg517=) c.129A>T (p.Arg43=) | |
20 | g.18543113G>A | CA408364133 | SEC23B | c.1606G>A (p.Ala536Thr) c.1552G>A (p.Ala518Thr) c.130G>A (p.Ala44Thr) | gnomAD v4 |
20 | g.18543113G>C | CA408364134 | SEC23B | c.1606G>C (p.Ala536Pro) c.1552G>C (p.Ala518Pro) c.130G>C (p.Ala44Pro) | |
20 | g.18543113G>T | CA408364135 | SEC23B | c.1606G>T (p.Ala536Ser) c.1552G>T (p.Ala518Ser) c.130G>T (p.Ala44Ser) | |
20 | g.18543114C>A | CA9778420 | SEC23B | c.1607C>A (p.Ala536Glu) c.1553C>A (p.Ala518Glu) c.131C>A (p.Ala44Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543114C= | CA2353564554 | SEC23B | c.1607C= (p.Ala536=) c.1553C= (p.Ala518=) c.131C= (p.Ala44=) | |
20 | g.18543114C>G | CA9778422 | SEC23B | c.1607C>G (p.Ala536Gly) c.1553C>G (p.Ala518Gly) c.131C>G (p.Ala44Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543114C>T | CA9778421 | SEC23B | c.1607C>T (p.Ala536Val) c.1553C>T (p.Ala518Val) c.131C>T (p.Ala44Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.18543115G>A | CA9778423 | SEC23B | c.1608G>A (p.Ala536=) c.1554G>A (p.Ala518=) c.132G>A (p.Ala44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543115G>C | CA509829345 | SEC23B | c.1608G>C (p.Ala536=) c.1554G>C (p.Ala518=) c.132G>C (p.Ala44=) | |
20 | g.18543115G= | CA2353564555 | SEC23B | c.1608G= (p.Ala536=) c.1554G= (p.Ala518=) c.132G= (p.Ala44=) | |
20 | g.18543115G>T | CA509829346 | SEC23B | c.1608G>T (p.Ala536=) c.1554G>T (p.Ala518=) c.132G>T (p.Ala44=) | gnomAD v4 |
20 | g.18543116G>A | CA408364136 | SEC23B | c.1609G>A (p.Glu537Lys) c.1555G>A (p.Glu519Lys) c.133G>A (p.Glu45Lys) | |
20 | g.18543116G>C | CA408364137 | SEC23B | c.1609G>C (p.Glu537Gln) c.1555G>C (p.Glu519Gln) c.133G>C (p.Glu45Gln) | |
20 | g.18543116G>T | CA408364138 | SEC23B | c.1609G>T (p.Glu537Ter) c.1555G>T (p.Glu519Ter) c.133G>T (p.Glu45Ter) | |
20 | g.18543117A>C | CA408364139 | SEC23B | c.1610A>C (p.Glu537Ala) c.1556A>C (p.Glu519Ala) c.134A>C (p.Glu45Ala) | |
20 | g.18543117A>G | CA408364140 | SEC23B | c.1610A>G (p.Glu537Gly) c.1556A>G (p.Glu519Gly) c.134A>G (p.Glu45Gly) | |
20 | g.18543117A>T | CA408364141 | SEC23B | c.1610A>T (p.Glu537Val) c.1556A>T (p.Glu519Val) c.134A>T (p.Glu45Val) | |
20 | g.18543118G>A | CA509829349 | SEC23B | c.1611G>A (p.Glu537=) c.1557G>A (p.Glu519=) c.135G>A (p.Glu45=) | ClinVar |
20 | g.18543118G>C | CA408364142 | SEC23B | c.1611G>C (p.Glu537Asp) c.1557G>C (p.Glu519Asp) c.135G>C (p.Glu45Asp) | |
20 | g.18543118G>T | CA408364143 | SEC23B | c.1611G>T (p.Glu537Asp) c.1557G>T (p.Glu519Asp) c.135G>T (p.Glu45Asp) | |
20 | g.18543119T>A | CA408364144 | SEC23B | c.1612T>A (p.Ser538Thr) c.1558T>A (p.Ser520Thr) c.136T>A (p.Ser46Thr) | |
20 | g.18543119T>C | CA408364145 | SEC23B | c.1612T>C (p.Ser538Pro) c.1558T>C (p.Ser520Pro) c.136T>C (p.Ser46Pro) | |
20 | g.18543119T>G | CA408364146 | SEC23B | c.1612T>G (p.Ser538Ala) c.1558T>G (p.Ser520Ala) c.136T>G (p.Ser46Ala) | dbSNP |
20 | g.18543119T= | CA2353564556 | SEC23B | c.1612T= (p.Ser538=) c.1558T= (p.Ser520=) c.136T= (p.Ser46=) | |
20 | g.18543120C>A | CA408364148 | SEC23B | c.1613C>A (p.Ser538Ter) c.1559C>A (p.Ser520Ter) c.137C>A (p.Ser46Ter) | |
20 | g.18543120C= | CA2353564557 | SEC23B | c.1613C= (p.Ser538=) c.1559C= (p.Ser520=) c.137C= (p.Ser46=) | |
20 | g.18543120C>G | CA408364147 | SEC23B | c.1613C>G (p.Ser538Ter) c.1559C>G (p.Ser520Ter) c.137C>G (p.Ser46Ter) | |
20 | g.18543120C>T | CA9778424 | SEC23B | c.1613C>T (p.Ser538Leu) c.1559C>T (p.Ser520Leu) c.137C>T (p.Ser46Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543121A>C | CA509829353 | SEC23B | c.1614A>C (p.Ser538=) c.1560A>C (p.Ser520=) c.138A>C (p.Ser46=) | |
20 | g.18543121A>G | CA509829354 | SEC23B | c.1614A>G (p.Ser538=) c.1560A>G (p.Ser520=) c.138A>G (p.Ser46=) | |
20 | g.18543121A>T | CA509829355 | SEC23B | c.1614A>T (p.Ser538=) c.1560A>T (p.Ser520=) c.138A>T (p.Ser46=) | |
20 | g.18543123_18543124del | CA2577347663 | SEC23B | c.1616_1617del (p.Glu539GlyfsTer24) c.1562_1563del (p.Glu521GlyfsTer24) c.140_141del (p.Glu47GlyfsTer24) | |
20 | g.18543122G>A | CA408364149 | SEC23B | c.1615G>A (p.Glu539Lys) c.1561G>A (p.Glu521Lys) c.139G>A (p.Glu47Lys) | |
20 | g.18543122G>C | CA408364150 | SEC23B | c.1615G>C (p.Glu539Gln) c.1561G>C (p.Glu521Gln) c.139G>C (p.Glu47Gln) | |
20 | g.18543122G>T | CA408364151 | SEC23B | c.1615G>T (p.Glu539Ter) c.1561G>T (p.Glu521Ter) c.139G>T (p.Glu47Ter) | |
20 | g.18543123A>C | CA408364152 | SEC23B | c.1616A>C (p.Glu539Ala) c.1562A>C (p.Glu521Ala) c.140A>C (p.Glu47Ala) | |
20 | g.18543123A>G | CA408364153 | SEC23B | c.1616A>G (p.Glu539Gly) c.1562A>G (p.Glu521Gly) c.140A>G (p.Glu47Gly) | |
20 | g.18543123A>T | CA408364154 | SEC23B | c.1616A>T (p.Glu539Val) c.1562A>T (p.Glu521Val) c.140A>T (p.Glu47Val) | |
20 | g.18543124G>A | CA509829359 | SEC23B | c.1617G>A (p.Glu539=) c.1563G>A (p.Glu521=) c.141G>A (p.Glu47=) | |
20 | g.18543124G>C | CA408364155 | SEC23B | c.1617G>C (p.Glu539Asp) c.1563G>C (p.Glu521Asp) c.141G>C (p.Glu47Asp) | |
20 | g.18543124G>T | CA408364156 | SEC23B | c.1617G>T (p.Glu539Asp) c.1563G>T (p.Glu521Asp) c.141G>T (p.Glu47Asp) | |
20 | g.18543125G>A | CA312407001 | SEC23B | c.1618G>A (p.Glu540Lys) c.1564G>A (p.Glu522Lys) c.142G>A (p.Glu48Lys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543125G>C | CA408364157 | SEC23B | c.1618G>C (p.Glu540Gln) c.1564G>C (p.Glu522Gln) c.142G>C (p.Glu48Gln) | |
20 | g.18543125G= | CA2353564558 | SEC23B | c.1618G= (p.Glu540=) c.1564G= (p.Glu522=) c.142G= (p.Glu48=) | |
20 | g.18543125G>T | CA9778425 | SEC23B | c.1618G>T (p.Glu540Ter) c.1564G>T (p.Glu522Ter) c.142G>T (p.Glu48Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543126A>C | CA408364158 | SEC23B | c.1619A>C (p.Glu540Ala) c.1565A>C (p.Glu522Ala) c.143A>C (p.Glu48Ala) | |
20 | g.18543126A>G | CA408364159 | SEC23B | c.1619A>G (p.Glu540Gly) c.1565A>G (p.Glu522Gly) c.143A>G (p.Glu48Gly) | |
20 | g.18543126A>T | CA408364160 | SEC23B | c.1619A>T (p.Glu540Val) c.1565A>T (p.Glu522Val) c.143A>T (p.Glu48Val) | |
20 | g.18543127G>A | CA509829363 | SEC23B | c.1620G>A (p.Glu540=) c.1566G>A (p.Glu522=) c.144G>A (p.Glu48=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543127G>C | CA408364162 | SEC23B | c.1620G>C (p.Glu540Asp) c.1566G>C (p.Glu522Asp) c.144G>C (p.Glu48Asp) | |
20 | g.18543127G= | CA2353564559 | SEC23B | c.1620G= (p.Glu540=) c.1566G= (p.Glu522=) c.144G= (p.Glu48=) | |
20 | g.18543127G>T | CA408364161 | SEC23B | c.1620G>T (p.Glu540Asp) c.1566G>T (p.Glu522Asp) c.144G>T (p.Glu48Asp) | gnomAD v4 |
20 | g.18543130dup | CA2577347664 | SEC23B | c.1623dup (p.Pro542AlafsTer22) c.1569dup (p.Pro524AlafsTer22) c.147dup (p.Pro50AlafsTer22) | |
20 | g.18543128G>A | CA408364163 | SEC23B | c.1621G>A (p.Gly541Arg) c.1567G>A (p.Gly523Arg) c.145G>A (p.Gly49Arg) | |
20 | g.18543128G>C | CA408364164 | SEC23B | c.1621G>C (p.Gly541Arg) c.1567G>C (p.Gly523Arg) c.145G>C (p.Gly49Arg) | |
20 | g.18543128G>T | CA408364165 | SEC23B | c.1621G>T (p.Gly541Trp) c.1567G>T (p.Gly523Trp) c.145G>T (p.Gly49Trp) | |
20 | g.18543129G>A | CA408364166 | SEC23B | c.1622G>A (p.Gly541Glu) c.1568G>A (p.Gly523Glu) c.146G>A (p.Gly49Glu) | |
20 | g.18543129G>C | CA408364167 | SEC23B | c.1622G>C (p.Gly541Ala) c.1568G>C (p.Gly523Ala) c.146G>C (p.Gly49Ala) | |
20 | g.18543129G>T | CA408364168 | SEC23B | c.1622G>T (p.Gly541Val) c.1568G>T (p.Gly523Val) c.146G>T (p.Gly49Val) | COSMIC |
20 | g.18543130G>A | CA509829367 | SEC23B | c.1623G>A (p.Gly541=) c.1569G>A (p.Gly523=) c.147G>A (p.Gly49=) | gnomAD v4 |
20 | g.18543130G>C | CA509829366 | SEC23B | c.1623G>C (p.Gly541=) c.1569G>C (p.Gly523=) c.147G>C (p.Gly49=) | |
20 | g.18543130G>T | CA509829365 | SEC23B | c.1623G>T (p.Gly541=) c.1569G>T (p.Gly523=) c.147G>T (p.Gly49=) | gnomAD v4 |
20 | g.18543131C>A | CA408364169 | SEC23B | c.1624C>A (p.Pro542Thr) c.1570C>A (p.Pro524Thr) c.148C>A (p.Pro50Thr) | |
20 | g.18543131C>G | CA408364170 | SEC23B | c.1624C>G (p.Pro542Ala) c.1570C>G (p.Pro524Ala) c.148C>G (p.Pro50Ala) | |
20 | g.18543131C>T | CA408364171 | SEC23B | c.1624C>T (p.Pro542Ser) c.1570C>T (p.Pro524Ser) c.148C>T (p.Pro50Ser) | |
20 | g.18543133del | CA645614622 | SEC23B | c.1626del (p.Asp543MetfsTer?) c.1572del (p.Asp525MetfsTer?) c.150del (p.Asp51MetfsTer?) | COSMIC |
20 | g.18543132C>A | CA408364172 | SEC23B | c.1625C>A (p.Pro542His) c.1571C>A (p.Pro524His) c.149C>A (p.Pro50His) | |
20 | g.18543132C= | CA2353564560 | SEC23B | c.1625C= (p.Pro542=) c.1571C= (p.Pro524=) c.149C= (p.Pro50=) | |
20 | g.18543132C>G | CA408364173 | SEC23B | c.1625C>G (p.Pro542Arg) c.1571C>G (p.Pro524Arg) c.149C>G (p.Pro50Arg) | |
20 | g.18543132C>T | CA408364174 | SEC23B | c.1625C>T (p.Pro542Leu) c.1571C>T (p.Pro524Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543133C>A | CA509829372 | SEC23B | c.1626C>A (p.Pro542=) c.1572C>A (p.Pro524=) c.150C>A (p.Pro50=) | |
20 | g.18543133C= | CA2353564561 | SEC23B | c.1626C= (p.Pro542=) c.1572C= (p.Pro524=) c.150C= (p.Pro50=) | |
20 | g.18543133C>G | CA9778426 | SEC23B | c.1626C>G (p.Pro542=) c.1572C>G (p.Pro524=) c.150C>G (p.Pro50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543133C>T | CA509829369 | SEC23B | c.1626C>T (p.Pro542=) c.1572C>T (p.Pro524=) c.150C>T (p.Pro50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543134G>A | CA9778427 | SEC23B | c.1627G>A (p.Asp543Asn) c.1573G>A (p.Asp525Asn) c.151G>A (p.Asp51Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543134G>C | CA408364175 | SEC23B | c.1627G>C (p.Asp543His) c.1573G>C (p.Asp525His) c.151G>C (p.Asp51His) | gnomAD v4 |
20 | g.18543134G= | CA2353564562 | SEC23B | c.1627G= (p.Asp543=) c.1573G= (p.Asp525=) c.151G= (p.Asp51=) | |
20 | g.18543134G>T | CA408364176 | SEC23B | c.1627G>T (p.Asp543Tyr) c.1573G>T (p.Asp525Tyr) c.151G>T (p.Asp51Tyr) | gnomAD v4 |
20 | g.18543135A>C | CA408364177 | SEC23B | c.1628A>C (p.Asp543Ala) c.1574A>C (p.Asp525Ala) c.152A>C (p.Asp51Ala) | |
20 | g.18543135A>G | CA408364178 | SEC23B | c.1628A>G (p.Asp543Gly) c.1574A>G (p.Asp525Gly) c.152A>G (p.Asp51Gly) | |
20 | g.18543135A>T | CA408364179 | SEC23B | c.1628A>T (p.Asp543Val) c.1574A>T (p.Asp525Val) c.152A>T (p.Asp51Val) | |
20 | g.18543136T>A | CA408364180 | SEC23B | c.1629T>A (p.Asp543Glu) c.1575T>A (p.Asp525Glu) c.153T>A (p.Asp51Glu) | |
20 | g.18543136T>C | CA509829376 | SEC23B | c.1629T>C (p.Asp543=) c.1575T>C (p.Asp525=) c.153T>C (p.Asp51=) | gnomAD v4 |
20 | g.18543136T>G | CA408364181 | SEC23B | c.1629T>G (p.Asp543Glu) c.1575T>G (p.Asp525Glu) c.153T>G (p.Asp51Glu) | |
20 | g.18543137G>A | CA408364182 | SEC23B | c.1630G>A (p.Val544Met) c.1576G>A (p.Val526Met) c.154G>A (p.Val52Met) | |
20 | g.18543137G>C | CA408364183 | SEC23B | c.1630G>C (p.Val544Leu) c.1576G>C (p.Val526Leu) c.154G>C (p.Val52Leu) | |
20 | g.18543137G>T | CA408364184 | SEC23B | c.1630G>T (p.Val544Leu) c.1576G>T (p.Val526Leu) c.154G>T (p.Val52Leu) | |
20 | g.18543138T>A | CA408364185 | SEC23B | c.1631T>A (p.Val544Glu) c.1577T>A (p.Val526Glu) c.155T>A (p.Val52Glu) | |
20 | g.18543138T>C | CA408364187 | SEC23B | c.1631T>C (p.Val544Ala) c.1577T>C (p.Val526Ala) c.155T>C (p.Val52Ala) | |
20 | g.18543138T>G | CA408364186 | SEC23B | c.1631T>G (p.Val544Gly) c.1577T>G (p.Val526Gly) c.155T>G (p.Val52Gly) | |
20 | g.18543139G>A | CA509829485 | SEC23B | c.1632G>A (p.Val544=) c.1578G>A (p.Val526=) c.156G>A (p.Val52=) | |
20 | g.18543139G>C | CA9778428 | SEC23B | c.1632G>C (p.Val544=) c.1578G>C (p.Val526=) c.156G>C (p.Val52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543139G= | CA2353564563 | SEC23B | c.1632G= (p.Val544=) c.1578G= (p.Val526=) c.156G= (p.Val52=) | |
20 | g.18543139G>T | CA509829489 | SEC23B | c.1632G>T (p.Val544=) c.1578G>T (p.Val526=) c.156G>T (p.Val52=) | |
20 | g.18543140C>A | CA408364188 | SEC23B | c.1633C>A (p.Leu545Ile) c.1579C>A (p.Leu527Ile) c.157C>A (p.Leu53Ile) | |
20 | g.18543140C>G | CA408364189 | SEC23B | c.1633C>G (p.Leu545Val) c.1579C>G (p.Leu527Val) c.157C>G (p.Leu53Val) | |
20 | g.18543140C>T | CA408364190 | SEC23B | c.1633C>T (p.Leu545Phe) c.1579C>T (p.Leu527Phe) c.157C>T (p.Leu53Phe) | |
20 | g.18543141T>A | CA408364193 | SEC23B | c.1634T>A (p.Leu545His) c.1580T>A (p.Leu527His) c.158T>A (p.Leu53His) | |
20 | g.18543141T>C | CA408364191 | SEC23B | c.1634T>C (p.Leu545Pro) c.1580T>C (p.Leu527Pro) c.158T>C (p.Leu53Pro) | |
20 | g.18543141T>G | CA408364192 | SEC23B | c.1634T>G (p.Leu545Arg) c.1580T>G (p.Leu527Arg) c.158T>G (p.Leu53Arg) | |
20 | g.18543142C>A | CA509829510 | SEC23B | c.1635C>A (p.Leu545=) c.1581C>A (p.Leu527=) c.159C>A (p.Leu53=) | |
20 | g.18543142C>G | CA509829512 | SEC23B | c.1635C>G (p.Leu545=) c.1581C>G (p.Leu527=) c.159C>G (p.Leu53=) | gnomAD v4 |
20 | g.18543142C>T | CA509829514 | SEC23B | c.1635C>T (p.Leu545=) c.1581C>T (p.Leu527=) c.159C>T (p.Leu53=) | |
20 | g.18543143C>A | CA509829516 | SEC23B | c.1636C>A (p.Arg546=) c.1582C>A (p.Arg528=) c.160C>A (p.Arg54=) | |
20 | g.18543143C= | CA2353564564 | SEC23B | c.1636C= (p.Arg546=) c.1582C= (p.Arg528=) c.160C= (p.Arg54=) | |
20 | g.18543143C>G | CA408364194 | SEC23B | c.1636C>G (p.Arg546Gly) c.1582C>G (p.Arg528Gly) c.160C>G (p.Arg54Gly) | |
20 | g.18543143C>T | CA9778429 | SEC23B | c.1636C>T (p.Arg546Trp) c.1582C>T (p.Arg528Trp) c.160C>T (p.Arg54Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543144G>A | CA9778430 | SEC23B | c.1637G>A (p.Arg546Gln) c.1583G>A (p.Arg528Gln) c.161G>A (p.Arg54Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543144G>C | CA408364195 | SEC23B | c.1637G>C (p.Arg546Pro) c.1583G>C (p.Arg528Pro) c.161G>C (p.Arg54Pro) | |
20 | g.18543144G= | CA2353564565 | SEC23B | c.1637G= (p.Arg546=) c.1583G= (p.Arg528=) c.161G= (p.Arg54=) | |
20 | g.18543144G>T | CA408364196 | SEC23B | c.1637G>T (p.Arg546Leu) c.1583G>T (p.Arg528Leu) c.161G>T (p.Arg54Leu) | ClinVar gnomAD v4 |
20 | g.18543145G>A | CA9778432 | SEC23B | c.1638G>A (p.Arg546=) c.1584G>A (p.Arg528=) c.162G>A (p.Arg54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543145G>C | CA9778431 | SEC23B | c.1638G>C (p.Arg546=) c.1584G>C (p.Arg528=) c.162G>C (p.Arg54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543145G= | CA2353564566 | SEC23B | c.1638G= (p.Arg546=) c.1584G= (p.Arg528=) c.162G= (p.Arg54=) | |
20 | g.18543145G>T | CA509829529 | SEC23B | c.1638G>T (p.Arg546=) c.1584G>T (p.Arg528=) c.162G>T (p.Arg54=) | |
20 | g.18543146T>A | CA408364197 | SEC23B | c.1639T>A (p.Trp547Arg) c.1585T>A (p.Trp529Arg) c.163T>A (p.Trp55Arg) | |
20 | g.18543146T>C | CA408364198 | SEC23B | c.1639T>C (p.Trp547Arg) c.1585T>C (p.Trp529Arg) c.163T>C (p.Trp55Arg) | |
20 | g.18543146T>G | CA408364199 | SEC23B | c.1639T>G (p.Trp547Gly) c.1585T>G (p.Trp529Gly) c.163T>G (p.Trp55Gly) | |
20 | g.18543147G>A | CA408364200 | SEC23B | c.1640G>A (p.Trp547Ter) c.1586G>A (p.Trp529Ter) c.164G>A (p.Trp55Ter) | |
20 | g.18543147G>C | CA408364201 | SEC23B | c.1640G>C (p.Trp547Ser) c.1586G>C (p.Trp529Ser) c.164G>C (p.Trp55Ser) | |
20 | g.18543147G>T | CA408364202 | SEC23B | c.1640G>T (p.Trp547Leu) c.1586G>T (p.Trp529Leu) c.164G>T (p.Trp55Leu) | |
20 | g.18543148G>A | CA9778433 | SEC23B | c.1641G>A (p.Trp547Ter) c.1587G>A (p.Trp529Ter) c.165G>A (p.Trp55Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543148G>C | CA408364204 | SEC23B | c.1641G>C (p.Trp547Cys) c.1587G>C (p.Trp529Cys) c.165G>C (p.Trp55Cys) | |
20 | g.18543148G= | CA2353564567 | SEC23B | c.1641G= (p.Trp547=) c.1587G= (p.Trp529=) c.165G= (p.Trp55=) | |
20 | g.18543148G>T | CA408364203 | SEC23B | c.1641G>T (p.Trp547Cys) c.1587G>T (p.Trp529Cys) c.165G>T (p.Trp55Cys) | |
20 | g.18543149C>A | CA408364205 | SEC23B | c.1642C>A (p.Leu548Met) c.1588C>A (p.Leu530Met) c.166C>A (p.Leu56Met) | gnomAD v4 |
20 | g.18543149C>G | CA408364206 | SEC23B | c.1642C>G (p.Leu548Val) c.1588C>G (p.Leu530Val) c.166C>G (p.Leu56Val) | gnomAD v4 |
20 | g.18543149C>T | CA509829544 | SEC23B | c.1642C>T (p.Leu548=) c.1588C>T (p.Leu530=) c.166C>T (p.Leu56=) | |
20 | g.18543150T>A | CA408364207 | SEC23B | c.1643T>A (p.Leu548Gln) c.1589T>A (p.Leu530Gln) c.167T>A (p.Leu56Gln) | |
20 | g.18543150T>C | CA408364208 | SEC23B | c.1643T>C (p.Leu548Pro) c.1589T>C (p.Leu530Pro) c.167T>C (p.Leu56Pro) | gnomAD v4 |
20 | g.18543150T>G | CA408364209 | SEC23B | c.1643T>G (p.Leu548Arg) c.1589T>G (p.Leu530Arg) c.167T>G (p.Leu56Arg) | |
20 | g.18543151G>A | CA509829549 | SEC23B | c.1644G>A (p.Leu548=) c.1590G>A (p.Leu530=) c.168G>A (p.Leu56=) | |
20 | g.18543151G>C | CA509829553 | SEC23B | c.1644G>C (p.Leu548=) c.1590G>C (p.Leu530=) c.168G>C (p.Leu56=) | |
20 | g.18543151G>T | CA509829551 | SEC23B | c.1644G>T (p.Leu548=) c.1590G>T (p.Leu530=) c.168G>T (p.Leu56=) | |
20 | g.18543152_18543156dup | CA2580611931 | SEC23B | c.1645_1649dup (p.Gln551ThrfsTer?) c.1591_1595dup (p.Gln533ThrfsTer?) c.169_173dup (p.Gln59ThrfsTer?) | |
20 | g.18543152G>A | CA408364210 | SEC23B | c.1645G>A (p.Asp549Asn) c.1591G>A (p.Asp531Asn) c.169G>A (p.Asp57Asn) | |
20 | g.18543152G>C | CA408364211 | SEC23B | c.1645G>C (p.Asp549His) c.1591G>C (p.Asp531His) c.169G>C (p.Asp57His) | |
20 | g.18543152G>T | CA408364212 | SEC23B | c.1645G>T (p.Asp549Tyr) c.1591G>T (p.Asp531Tyr) c.169G>T (p.Asp57Tyr) | |
20 | g.18543152_18543159delinsGACCGACA | CA2353564568 | SEC23B | c.1645_1652delinsGACCGACA (p.Asp549=) c.1591_1598delinsGACCGACA (p.Asp531=) c.169_176delinsGACCGACA (p.Asp57=) | |
20 | g.18543153A>C | CA408364213 | SEC23B | c.1646A>C (p.Asp549Ala) c.1592A>C (p.Asp531Ala) c.170A>C (p.Asp57Ala) | |
20 | g.18543153A>G | CA408364214 | SEC23B | c.1646A>G (p.Asp549Gly) c.1592A>G (p.Asp531Gly) c.170A>G (p.Asp57Gly) | gnomAD v4 |
20 | g.18543153A>T | CA408364215 | SEC23B | c.1646A>T (p.Asp549Val) c.1592A>T (p.Asp531Val) c.170A>T (p.Asp57Val) | |
20 | g.18543155_18543161del | CA9778434 | SEC23B | c.1648_1654del (p.Arg550SerfsTer?) c.1594_1600del (p.Arg532SerfsTer?) c.172_178del (p.Arg58SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543154C>A | CA408364216 | SEC23B | c.1647C>A (p.Asp549Glu) c.1593C>A (p.Asp531Glu) c.171C>A (p.Asp57Glu) | |
20 | g.18543154C= | CA2353564569 | SEC23B | c.1647C= (p.Asp549=) c.1593C= (p.Asp531=) c.171C= (p.Asp57=) | |
20 | g.18543154C>G | CA408364217 | SEC23B | c.1647C>G (p.Asp549Glu) c.1593C>G (p.Asp531Glu) c.171C>G (p.Asp57Glu) | |
20 | g.18543154C>T | CA509829569 | SEC23B | c.1647C>T (p.Asp549=) c.1593C>T (p.Asp531=) c.171C>T (p.Asp57=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.18543155C>A | CA509829571 | SEC23B | c.1648C>A (p.Arg550=) c.1594C>A (p.Arg532=) c.172C>A (p.Arg58=) | |
20 | g.18543155C= | CA2353564570 | SEC23B | c.1648C= (p.Arg550=) c.1594C= (p.Arg532=) c.172C= (p.Arg58=) | |
20 | g.18543155C>G | CA408364218 | SEC23B | c.1648C>G (p.Arg550Gly) c.1594C>G (p.Arg532Gly) c.172C>G (p.Arg58Gly) | gnomAD v4 |
20 | g.18543155C>T | CA234909 | SEC23B | c.1648C>T (p.Arg550Ter) c.1594C>T (p.Arg532Ter) c.172C>T (p.Arg58Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543156G>A | CA9778435 | SEC23B | c.1649G>A (p.Arg550Gln) c.1595G>A (p.Arg532Gln) c.173G>A (p.Arg58Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543156G>C | CA408364219 | SEC23B | c.1649G>C (p.Arg550Pro) c.1595G>C (p.Arg532Pro) c.173G>C (p.Arg58Pro) | |
20 | g.18543156G= | CA2353564571 | SEC23B | c.1649G= (p.Arg550=) c.1595G= (p.Arg532=) c.173G= (p.Arg58=) | |
20 | g.18543156G>T | CA408364220 | SEC23B | c.1649G>T (p.Arg550Leu) c.1595G>T (p.Arg532Leu) c.173G>T (p.Arg58Leu) | |
20 | g.18543157A>C | CA509829579 | SEC23B | c.1650A>C (p.Arg550=) c.1596A>C (p.Arg532=) c.174A>C (p.Arg58=) | gnomAD v4 |
20 | g.18543157A>G | CA509829583 | SEC23B | c.1650A>G (p.Arg550=) c.1596A>G (p.Arg532=) c.174A>G (p.Arg58=) | gnomAD v4 |
20 | g.18543157A>T | CA509829580 | SEC23B | c.1650A>T (p.Arg550=) c.1596A>T (p.Arg532=) c.174A>T (p.Arg58=) | |
20 | g.18543158C>A | CA408364221 | SEC23B | c.1651C>A (p.Gln551Lys) c.1597C>A (p.Gln533Lys) c.175C>A (p.Gln59Lys) | |
20 | g.18543158C>G | CA408364222 | SEC23B | c.1651C>G (p.Gln551Glu) c.1597C>G (p.Gln533Glu) c.175C>G (p.Gln59Glu) | |
20 | g.18543158C>T | CA408364223 | SEC23B | c.1651C>T (p.Gln551Ter) c.1597C>T (p.Gln533Ter) c.175C>T (p.Gln59Ter) | gnomAD v4 |
20 | g.18543159A>C | CA408364224 | SEC23B | c.1652A>C (p.Gln551Pro) c.1598A>C (p.Gln533Pro) c.176A>C (p.Gln59Pro) | |
20 | g.18543159A>G | CA408364225 | SEC23B | c.1652A>G (p.Gln551Arg) c.1598A>G (p.Gln533Arg) c.176A>G (p.Gln59Arg) | |
20 | g.18543159A>T | CA408364226 | SEC23B | c.1652A>T (p.Gln551Leu) c.1598A>T (p.Gln533Leu) c.176A>T (p.Gln59Leu) | COSMIC |
20 | g.18543160A= | CA2353564572 | SEC23B | c.1653A= (p.Gln551=) c.1599A= (p.Gln533=) c.177A= (p.Gln59=) | |
20 | g.18543160A>C | CA408364227 | SEC23B | c.1653A>C (p.Gln551His) c.1599A>C (p.Gln533His) c.177A>C (p.Gln59His) | |
20 | g.18543160A>G | CA509829598 | SEC23B | c.1653A>G (p.Gln551=) c.1599A>G (p.Gln533=) c.177A>G (p.Gln59=) | ClinVar |
20 | g.18543160A>T | CA312407072 | SEC23B | c.1653A>T (p.Gln551His) c.1599A>T (p.Gln533His) c.177A>T (p.Gln59His) | dbSNP gnomAD v4 |
20 | g.18543161C>A | CA408364228 | SEC23B | c.1654C>A (p.Leu552Ile) c.1600C>A (p.Leu534Ile) c.178C>A (p.Leu60Ile) | |
20 | g.18543161C>G | CA408364230 | SEC23B | c.1654C>G (p.Leu552Val) c.1600C>G (p.Leu534Val) c.178C>G (p.Leu60Val) | gnomAD v4 |
20 | g.18543161C>T | CA408364229 | SEC23B | c.1654C>T (p.Leu552Phe) c.1600C>T (p.Leu534Phe) c.178C>T (p.Leu60Phe) | ClinVar gnomAD v4 |
20 | g.18543161_18543162delinsCT | CA2353564573 | SEC23B | c.1654_1655delinsCT (p.Leu552=) c.1600_1601delinsCT (p.Leu534=) c.178_179delinsCT (p.Leu60=) | |
20 | g.18543162del | CA9778436 | SEC23B | c.1655del (p.Leu552ProfsTer?) c.1601del (p.Leu534ProfsTer?) c.179del (p.Leu60ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543162T>A | CA408364231 | SEC23B | c.1655T>A (p.Leu552His) c.1601T>A (p.Leu534His) c.179T>A (p.Leu60His) | |
20 | g.18543162T>C | CA408364232 | SEC23B | c.1655T>C (p.Leu552Pro) c.1601T>C (p.Leu534Pro) c.179T>C (p.Leu60Pro) | |
20 | g.18543162T>G | CA408364233 | SEC23B | c.1655T>G (p.Leu552Arg) c.1601T>G (p.Leu534Arg) c.179T>G (p.Leu60Arg) | |
20 | g.18543163C>A | CA509829611 | SEC23B | c.1656C>A (p.Leu552=) c.1602C>A (p.Leu534=) c.180C>A (p.Leu60=) | gnomAD v4 |
20 | g.18543163C= | CA2353564574 | SEC23B | c.1656C= (p.Leu552=) c.1602C= (p.Leu534=) c.180C= (p.Leu60=) | |
20 | g.18543163C>G | CA509829613 | SEC23B | c.1656C>G (p.Leu552=) c.1602C>G (p.Leu534=) c.180C>G (p.Leu60=) | |
20 | g.18543163C>T | CA509829614 | SEC23B | c.1656C>T (p.Leu552=) c.1602C>T (p.Leu534=) c.180C>T (p.Leu60=) | ClinVar dbSNP gnomAD v4 |
20 | g.18543164A>C | CA408364236 | SEC23B | c.1657A>C (p.Ile553Leu) c.1603A>C (p.Ile535Leu) c.181A>C (p.Ile61Leu) | gnomAD v4 |
20 | g.18543164A>G | CA408364234 | SEC23B | c.1657A>G (p.Ile553Val) c.1603A>G (p.Ile535Val) c.181A>G (p.Ile61Val) | |
20 | g.18543164A>T | CA408364235 | SEC23B | c.1657A>T (p.Ile553Phe) c.1603A>T (p.Ile535Phe) c.181A>T (p.Ile61Phe) | |
20 | g.18543165T>A | CA408364237 | SEC23B | c.1658T>A (p.Ile553Asn) c.1604T>A (p.Ile535Asn) c.182T>A (p.Ile61Asn) | |
20 | g.18543165T>C | CA408364238 | SEC23B | c.1658T>C (p.Ile553Thr) c.1604T>C (p.Ile535Thr) c.182T>C (p.Ile61Thr) | |
20 | g.18543165T>G | CA408364239 | SEC23B | c.1658T>G (p.Ile553Ser) c.1604T>G (p.Ile535Ser) c.182T>G (p.Ile61Ser) | |
20 | g.18543165_18543166delinsTC | CA2353564575 | SEC23B | c.1658_1659delinsTC (p.Ile553=) c.1604_1605delinsTC (p.Ile535=) c.182_183delinsTC (p.Ile61=) | |
20 | g.18543166C>A | CA509829625 | SEC23B | c.1659C>A (p.Ile553=) c.1605C>A (p.Ile535=) c.183C>A (p.Ile61=) | |
20 | g.18543166C>G | CA408364240 | SEC23B | c.1659C>G (p.Ile553Met) c.1605C>G (p.Ile535Met) c.183C>G (p.Ile61Met) | |
20 | g.18543166C>T | CA509829629 | SEC23B | c.1659C>T (p.Ile553=) c.1605C>T (p.Ile535=) c.183C>T (p.Ile61=) | |
20 | g.18543167del | CA9778437 | SEC23B | c.1660del (p.Arg554AspfsTer?) c.1606del (p.Arg536AspfsTer?) c.184del (p.Arg62AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543167C>A | CA509829631 | SEC23B | c.1660C>A (p.Arg554=) c.1606C>A (p.Arg536=) c.184C>A (p.Arg62=) | ClinVar |
20 | g.18543167C= | CA2353564576 | SEC23B | c.1660C= (p.Arg554=) c.1606C= (p.Arg536=) c.184C= (p.Arg62=) | |
20 | g.18543167C>G | CA408364241 | SEC23B | c.1660C>G (p.Arg554Gly) c.1606C>G (p.Arg536Gly) c.184C>G (p.Arg62Gly) | |
20 | g.18543167C>T | CA9778438 | SEC23B | c.1660C>T (p.Arg554Ter) c.1606C>T (p.Arg536Ter) c.184C>T (p.Arg62Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.18543168G>A | CA9778439 | SEC23B | c.1661G>A (p.Arg554Gln) c.1607G>A (p.Arg536Gln) c.185G>A (p.Arg62Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543168G>C | CA408364242 | SEC23B | c.1661G>C (p.Arg554Pro) c.1607G>C (p.Arg536Pro) c.185G>C (p.Arg62Pro) | |
20 | g.18543168G= | CA2353564577 | SEC23B | c.1661G= (p.Arg554=) c.1607G= (p.Arg536=) c.185G= (p.Arg62=) | |
20 | g.18543168G>T | CA408364243 | SEC23B | c.1661G>T (p.Arg554Leu) c.1607G>T (p.Arg536Leu) c.185G>T (p.Arg62Leu) | |
20 | g.18543169A>C | CA509829638 | SEC23B | c.1662A>C (p.Arg554=) c.1608A>C (p.Arg536=) c.186A>C (p.Arg62=) | |
20 | g.18543169A>G | CA509829640 | SEC23B | c.1662A>G (p.Arg554=) c.1608A>G (p.Arg536=) c.186A>G (p.Arg62=) | |
20 | g.18543169A>T | CA509829642 | SEC23B | c.1662A>T (p.Arg554=) c.1608A>T (p.Arg536=) c.186A>T (p.Arg62=) | |
20 | g.18543170C>A | CA408364245 | SEC23B | c.1663C>A (p.Leu555Met) c.1609C>A (p.Leu537Met) c.187C>A (p.Leu63Met) | |
20 | g.18543170C>G | CA408364244 | SEC23B | c.1663C>G (p.Leu555Val) c.1609C>G (p.Leu537Val) c.187C>G (p.Leu63Val) | gnomAD v4 |
20 | g.18543170C>T | CA509829645 | SEC23B | c.1663C>T (p.Leu555=) c.1609C>T (p.Leu537=) c.187C>T (p.Leu63=) | |
20 | g.18543171T>A | CA408364246 | SEC23B | c.1664T>A (p.Leu555Gln) c.1610T>A (p.Leu537Gln) c.188T>A (p.Leu63Gln) | |
20 | g.18543171T>C | CA408364247 | SEC23B | c.1664T>C (p.Leu555Pro) c.1610T>C (p.Leu537Pro) c.188T>C (p.Leu63Pro) | |
20 | g.18543171T>G | CA408364248 | SEC23B | c.1664T>G (p.Leu555Arg) c.1610T>G (p.Leu537Arg) c.188T>G (p.Leu63Arg) | dbSNP gnomAD v4 |
20 | g.18543171T= | CA2353564578 | SEC23B | c.1664T= (p.Leu555=) c.1610T= (p.Leu537=) c.188T= (p.Leu63=) | |
20 | g.18543172G>A | CA509829653 | SEC23B | c.1665G>A (p.Leu555=) c.1611G>A (p.Leu537=) c.189G>A (p.Leu63=) | |
20 | g.18543172G>C | CA509829656 | SEC23B | c.1665G>C (p.Leu555=) c.1611G>C (p.Leu537=) c.189G>C (p.Leu63=) | |
20 | g.18543172G= | CA2353564579 | SEC23B | c.1665G= (p.Leu555=) c.1611G= (p.Leu537=) c.189G= (p.Leu63=) | |
20 | g.18543172G>T | CA509829655 | SEC23B | c.1665G>T (p.Leu555=) c.1611G>T (p.Leu537=) c.189G>T (p.Leu63=) | |
20 | g.18543172_18543173insACAATTCCAGAGTTA | CA2353564580 | SEC23B | c.1665_1665+1insACAATTCCAGAGTTA (n.1665_1665+1insACAATTCCAGAGTTA) c.1611_1611+1insACAATTCCAGAGTTA (n.1611_1611+1insACAATTCCAGAGTTA) c.189_189+1insACAATTCCAGAGTTA (n.189_189+1insACAATTCCAGAGTTA) | dbSNP |
20 | g.18543173G>A | CA408364249 | SEC23B | c.1665+1G>A (n.1665+1G>A) c.1611+1G>A (n.1611+1G>A) c.189+1G>A (n.189+1G>A) | COSMIC |
20 | g.18543173G>C | CA408364250 | SEC23B | c.1665+1G>C (n.1665+1G>C) c.1611+1G>C (n.1611+1G>C) c.189+1G>C (n.189+1G>C) | |
20 | g.18543173G>T | CA408364251 | SEC23B | c.1665+1G>T (n.1665+1G>T) c.1611+1G>T (n.1611+1G>T) c.189+1G>T (n.189+1G>T) | |
20 | g.18543174T>A | CA408364252 | SEC23B | c.1665+2T>A (n.1665+2T>A) c.1611+2T>A (n.1611+2T>A) c.189+2T>A (n.189+2T>A) | |
20 | g.18543174T>C | CA408364253 | SEC23B | c.1665+2T>C (n.1665+2T>C) c.1611+2T>C (n.1611+2T>C) c.189+2T>C (n.189+2T>C) | |
20 | g.18543174T>G | CA408364254 | SEC23B | c.1665+2T>G (n.1665+2T>G) c.1611+2T>G (n.1611+2T>G) c.189+2T>G (n.189+2T>G) | |
20 | g.18543176A>G | CA2580097914 | SEC23B | c.1665+4A>G (n.1665+4A>G) c.1611+4A>G (n.1611+4A>G) c.189+4A>G (n.189+4A>G) | ClinVar |
20 | g.18543178T>A | CA2652044058 | SEC23B | c.1665+6T>A (n.1665+6T>A) c.1611+6T>A (n.1611+6T>A) c.189+6T>A (n.189+6T>A) | gnomAD v4 |
20 | g.18543178T>C | CA9778440 | SEC23B | c.1665+6T>C (n.1665+6T>C) c.1611+6T>C (n.1611+6T>C) c.189+6T>C (n.189+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543178T= | CA2353564581 | SEC23B | c.1665+6T= (n.1665+6T=) c.1611+6T= (n.1611+6T=) c.189+6T= (n.189+6T=) | |
20 | g.18543180G>A | CA2652044062 | SEC23B | c.1665+8G>A (n.1665+8G>A) c.1611+8G>A (n.1611+8G>A) c.189+8G>A (n.189+8G>A) | gnomAD v4 |
20 | g.18543180G>T | CA2652044063 | SEC23B | c.1665+8G>T (n.1665+8G>T) c.1611+8G>T (n.1611+8G>T) c.189+8G>T (n.189+8G>T) | gnomAD v4 |
20 | g.18543182G>A | CA2577347665 | SEC23B | c.1665+10G>A (n.1665+10G>A) c.1611+10G>A (n.1611+10G>A) c.189+10G>A (n.189+10G>A) | |
20 | g.18543182G>C | CA2353564583 | SEC23B | c.1665+10G>C (n.1665+10G>C) c.1611+10G>C (n.1611+10G>C) c.189+10G>C (n.189+10G>C) | dbSNP |
20 | g.18543182G= | CA2353564582 | SEC23B | c.1665+10G= (n.1665+10G=) c.1611+10G= (n.1611+10G=) c.189+10G= (n.189+10G=) | |
20 | g.18543182G>T | CA2652044066 | SEC23B | c.1665+10G>T (n.1665+10G>T) c.1611+10G>T (n.1611+10G>T) c.189+10G>T (n.189+10G>T) | gnomAD v4 |
20 | g.18543183G>A | CA9778441 | SEC23B | c.1665+11G>A (n.1665+11G>A) c.1611+11G>A (n.1611+11G>A) c.189+11G>A (n.189+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543183G= | CA2353564584 | SEC23B | c.1665+11G= (n.1665+11G=) c.1611+11G= (n.1611+11G=) c.189+11G= (n.189+11G=) | |
20 | g.18543184A= | CA2353564585 | SEC23B | c.1665+12A= (n.1665+12A=) c.1611+12A= (n.1611+12A=) c.189+12A= (n.189+12A=) | |
20 | g.18543184A>C | CA9778442 | SEC23B | c.1665+12A>C (n.1665+12A>C) c.1611+12A>C (n.1611+12A>C) c.189+12A>C (n.189+12A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543185C>A | CA2652044074 | SEC23B | c.1665+13C>A (n.1665+13C>A) c.1611+13C>A (n.1611+13C>A) c.189+13C>A (n.189+13C>A) | gnomAD v4 |
20 | g.18543186A= | CA2353564586 | SEC23B | c.1665+14A= (n.1665+14A=) c.1611+14A= (n.1611+14A=) c.189+14A= (n.189+14A=) | |
20 | g.18543186A>G | CA312407094 | SEC23B | c.1665+14A>G (n.1665+14A>G) c.1611+14A>G (n.1611+14A>G) c.189+14A>G (n.189+14A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543187G>C | CA9778443 | SEC23B | c.1665+15G>C (n.1665+15G>C) c.1611+15G>C (n.1611+15G>C) c.189+15G>C (n.189+15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543187G= | CA2353564587 | SEC23B | c.1665+15G= (n.1665+15G=) c.1611+15G= (n.1611+15G=) c.189+15G= (n.189+15G=) | |
20 | g.18543189G>A | CA741791215 | SEC23B | c.1665+17G>A (n.1665+17G>A) c.1611+17G>A (n.1611+17G>A) c.189+17G>A (n.189+17G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543189G= | CA2353564588 | SEC23B | c.1665+17G= (n.1665+17G=) c.1611+17G= (n.1611+17G=) c.189+17G= (n.189+17G=) | |
20 | g.18543190G>A | CA9778444 | SEC23B | c.1665+18G>A (n.1665+18G>A) c.1611+18G>A (n.1611+18G>A) c.189+18G>A (n.189+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543190G= | CA2353564589 | SEC23B | c.1665+18G= (n.1665+18G=) c.1611+18G= (n.1611+18G=) c.189+18G= (n.189+18G=) | |
20 | g.18543191C= | CA2353564590 | SEC23B | c.1665+19C= (n.1665+19C=) c.1611+19C= (n.1611+19C=) c.189+19C= (n.189+19C=) | |
20 | g.18543191C>G | CA2652044082 | SEC23B | c.1665+19C>G (n.1665+19C>G) c.1611+19C>G (n.1611+19C>G) c.189+19C>G (n.189+19C>G) | gnomAD v4 |
20 | g.18543191C>T | CA312407125 | SEC23B | c.1665+19C>T (n.1665+19C>T) c.1611+19C>T (n.1611+19C>T) c.189+19C>T (n.189+19C>T) | dbSNP |
20 | g.18543192A= | CA2353564591 | SEC23B | c.1665+20A= (n.1665+20A=) c.1611+20A= (n.1611+20A=) c.189+20A= (n.189+20A=) | |
20 | g.18543192A>T | CA9778445 | SEC23B | c.1665+20A>T (n.1665+20A>T) c.1611+20A>T (n.1611+20A>T) c.189+20A>T (n.189+20A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543193_18543194insGCT | CA920176028 | SEC23B | c.1665+21_1665+22insGCT (n.1665+21_1665+22insGCT) c.1611+21_1611+22insGCT (n.1611+21_1611+22insGCT) c.189+21_189+22insGCT (n.189+21_189+22insGCT) | dbSNP |
20 | g.18543197G>A | CA2652044084 | SEC23B | c.1665+25G>A (n.1665+25G>A) c.1611+25G>A (n.1611+25G>A) c.189+25G>A (n.189+25G>A) | gnomAD v4 |
20 | g.18543197G>T | CA2815455638 | SEC23B | c.1665+25G>T (n.1665+25G>T) c.1611+25G>T (n.1611+25G>T) c.189+25G>T (n.189+25G>T) | |
20 | g.18543198T>C | CA2577347666 | SEC23B | c.1665+26T>C (n.1665+26T>C) c.1611+26T>C (n.1611+26T>C) c.189+26T>C (n.189+26T>C) | |
20 | g.18543198T>G | CA9778446 | SEC23B | c.1665+26T>G (n.1665+26T>G) c.1611+26T>G (n.1611+26T>G) c.189+26T>G (n.189+26T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543198T= | CA2353564592 | SEC23B | c.1665+26T= (n.1665+26T=) c.1611+26T= (n.1611+26T=) c.189+26T= (n.189+26T=) | |
20 | g.18543201A= | CA2353564593 | SEC23B | c.1665+29A= (n.1665+29A=) c.1611+29A= (n.1611+29A=) c.189+29A= (n.189+29A=) | |
20 | g.18543201A>C | CA2652044088 | SEC23B | c.1665+29A>C (n.1665+29A>C) c.1611+29A>C (n.1611+29A>C) c.189+29A>C (n.189+29A>C) | gnomAD v4 |
20 | g.18543201A>G | CA2353564594 | SEC23B | c.1665+29A>G (n.1665+29A>G) c.1611+29A>G (n.1611+29A>G) c.189+29A>G (n.189+29A>G) | dbSNP gnomAD v4 |
20 | g.18543202G>A | CA2353564595 | SEC23B | c.1665+30G>A (n.1665+30G>A) c.1611+30G>A (n.1611+30G>A) c.189+30G>A (n.189+30G>A) | dbSNP |
20 | g.18543202G= | CA2353564596 | SEC23B | c.1665+30G= (n.1665+30G=) c.1611+30G= (n.1611+30G=) c.189+30G= (n.189+30G=) | |
20 | g.18543204C>T | CA2652044089 | SEC23B | c.1665+32C>T (n.1665+32C>T) c.1611+32C>T (n.1611+32C>T) c.189+32C>T (n.189+32C>T) | gnomAD v4 |