Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209564_108209565delinsCG | CA2117794253 | LIG4 | c.1503_1504delinsCG (p.Met502Val) c.1704_1705delinsCG (p.Met569Val) c.1740_1741delinsCG (p.Met581Val) c.1716_1717delinsCG (p.Met573Val) | ClinVar dbSNP |
13 | g.108209564_108209565delinsTA | CA2117794254 | LIG4 | c.1503_1504delinsTA (p.Asp501=) c.1704_1705delinsTA (p.Asp568=) c.1740_1741delinsTA (p.Asp580=) c.1716_1717delinsTA (p.Asp572=) | |
13 | g.108209565A= | CA2018047018 | LIG4 | c.1503T= (p.Asp501=) c.1704T= (p.Asp568=) c.1740T= (p.Asp580=) c.1716T= (p.Asp572=) | |
13 | g.108209565A>C | CA388616382 | LIG4 | c.1503T>G (p.Asp501Glu) c.1704T>G (p.Asp568Glu) c.1740T>G (p.Asp580Glu) c.1716T>G (p.Asp572Glu) | |
13 | g.108209565A>G | CA153528 | LIG4 | c.1503T>C (p.Asp501=) c.1704T>C (p.Asp568=) c.1740T>C (p.Asp580=) c.1716T>C (p.Asp572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209565A>T | CA388616384 | LIG4 | c.1503T>A (p.Asp501Glu) c.1704T>A (p.Asp568Glu) c.1740T>A (p.Asp580Glu) c.1716T>A (p.Asp572Glu) | |
13 | g.108209566T>A | CA388616386 | LIG4 | c.1502A>T (p.Asp501Val) c.1703A>T (p.Asp568Val) c.1739A>T (p.Asp580Val) c.1715A>T (p.Asp572Val) | |
13 | g.108209566T>C | CA7043635 | LIG4 | c.1502A>G (p.Asp501Gly) c.1703A>G (p.Asp568Gly) c.1739A>G (p.Asp580Gly) c.1715A>G (p.Asp572Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209566T>G | CA256180902 | LIG4 | c.1502A>C (p.Asp501Ala) c.1703A>C (p.Asp568Ala) c.1739A>C (p.Asp580Ala) c.1715A>C (p.Asp572Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209566T= | CA2117794255 | LIG4 | c.1502A= (p.Asp501=) c.1703A= (p.Asp568=) c.1739A= (p.Asp580=) c.1715A= (p.Asp572=) | |
13 | g.108209567C>A | CA388616390 | LIG4 | c.1501G>T (p.Asp501Tyr) c.1702G>T (p.Asp568Tyr) c.1738G>T (p.Asp580Tyr) c.1714G>T (p.Asp572Tyr) | |
13 | g.108209567C>G | CA388616392 | LIG4 | c.1501G>C (p.Asp501His) c.1702G>C (p.Asp568His) c.1738G>C (p.Asp580His) c.1714G>C (p.Asp572His) | |
13 | g.108209567C>T | CA388616393 | LIG4 | c.1501G>A (p.Asp501Asn) c.1702G>A (p.Asp568Asn) c.1738G>A (p.Asp580Asn) c.1714G>A (p.Asp572Asn) | gnomAD v4 |
13 | g.108209568A>C | CA388616395 | LIG4 | c.1500T>G (p.Ser500Arg) c.1701T>G (p.Ser567Arg) c.1737T>G (p.Ser579Arg) c.1713T>G (p.Ser571Arg) | |
13 | g.108209568A>G | CA484975300 | LIG4 | c.1500T>C (p.Ser500=) c.1701T>C (p.Ser567=) c.1737T>C (p.Ser579=) c.1713T>C (p.Ser571=) | ClinVar |
13 | g.108209568A>T | CA388616396 | LIG4 | c.1500T>A (p.Ser500Arg) c.1701T>A (p.Ser567Arg) c.1737T>A (p.Ser579Arg) c.1713T>A (p.Ser571Arg) | |
13 | g.108209569C>A | CA388616398 | LIG4 | c.1499G>T (p.Ser500Ile) c.1700G>T (p.Ser567Ile) c.1736G>T (p.Ser579Ile) c.1712G>T (p.Ser571Ile) | |
13 | g.108209569C>G | CA388616400 | LIG4 | c.1499G>C (p.Ser500Thr) c.1700G>C (p.Ser567Thr) c.1736G>C (p.Ser579Thr) c.1712G>C (p.Ser571Thr) | |
13 | g.108209569C>T | CA388616402 | LIG4 | c.1499G>A (p.Ser500Asn) c.1700G>A (p.Ser567Asn) c.1736G>A (p.Ser579Asn) c.1712G>A (p.Ser571Asn) | |
13 | g.108209570T>A | CA388616408 | LIG4 | c.1498A>T (p.Ser500Cys) c.1699A>T (p.Ser567Cys) c.1735A>T (p.Ser579Cys) c.1711A>T (p.Ser571Cys) | |
13 | g.108209570T>C | CA388616406 | LIG4 | c.1498A>G (p.Ser500Gly) c.1699A>G (p.Ser567Gly) c.1735A>G (p.Ser579Gly) c.1711A>G (p.Ser571Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209570T>G | CA388616404 | LIG4 | c.1498A>C (p.Ser500Arg) c.1699A>C (p.Ser567Arg) c.1735A>C (p.Ser579Arg) c.1711A>C (p.Ser571Arg) | |
13 | g.108209570T= | CA2117794256 | LIG4 | c.1498A= (p.Ser500=) c.1699A= (p.Ser567=) c.1735A= (p.Ser579=) c.1711A= (p.Ser571=) | |
13 | g.108209571G>A | CA484975308 | LIG4 | c.1497C>T (p.Pro499=) c.1698C>T (p.Pro566=) c.1734C>T (p.Pro578=) c.1710C>T (p.Pro570=) | gnomAD v4 |
13 | g.108209571G>C | CA484975309 | LIG4 | c.1497C>G (p.Pro499=) c.1698C>G (p.Pro566=) c.1734C>G (p.Pro578=) c.1710C>G (p.Pro570=) | |
13 | g.108209571G>T | CA484975310 | LIG4 | c.1497C>A (p.Pro499=) c.1698C>A (p.Pro566=) c.1734C>A (p.Pro578=) c.1710C>A (p.Pro570=) | |
13 | g.108209572G>A | CA388616409 | LIG4 | c.1496C>T (p.Pro499Leu) c.1697C>T (p.Pro566Leu) c.1733C>T (p.Pro578Leu) c.1709C>T (p.Pro570Leu) | ClinVar |
13 | g.108209572G>C | CA388616410 | LIG4 | c.1496C>G (p.Pro499Arg) c.1697C>G (p.Pro566Arg) c.1733C>G (p.Pro578Arg) c.1709C>G (p.Pro570Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209572G= | CA2117794257 | LIG4 | c.1496C= (p.Pro499=) c.1697C= (p.Pro566=) c.1733C= (p.Pro578=) c.1709C= (p.Pro570=) | |
13 | g.108209572G>T | CA388616412 | LIG4 | c.1496C>A (p.Pro499His) c.1697C>A (p.Pro566His) c.1733C>A (p.Pro578His) c.1709C>A (p.Pro570His) | ClinVar dbSNP |
13 | g.108209573G>A | CA7043636 | LIG4 | c.1495C>T (p.Pro499Ser) c.1696C>T (p.Pro566Ser) c.1732C>T (p.Pro578Ser) c.1708C>T (p.Pro570Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209573G>C | CA388616415 | LIG4 | c.1495C>G (p.Pro499Ala) c.1696C>G (p.Pro566Ala) c.1732C>G (p.Pro578Ala) c.1708C>G (p.Pro570Ala) | |
13 | g.108209573G= | CA2117794258 | LIG4 | c.1495C= (p.Pro499=) c.1696C= (p.Pro566=) c.1732C= (p.Pro578=) c.1708C= (p.Pro570=) | |
13 | g.108209573G>T | CA388616417 | LIG4 | c.1495C>A (p.Pro499Thr) c.1696C>A (p.Pro566Thr) c.1732C>A (p.Pro578Thr) c.1708C>A (p.Pro570Thr) | |
13 | g.108209574T>A | CA484975313 | LIG4 | c.1494A>T (p.Val498=) c.1695A>T (p.Val565=) c.1731A>T (p.Val577=) c.1707A>T (p.Val569=) | |
13 | g.108209574T>C | CA484975316 | LIG4 | c.1494A>G (p.Val498=) c.1695A>G (p.Val565=) c.1731A>G (p.Val577=) c.1707A>G (p.Val569=) | dbSNP gnomAD v4 |
13 | g.108209574T>G | CA484975318 | LIG4 | c.1494A>C (p.Val498=) c.1695A>C (p.Val565=) c.1731A>C (p.Val577=) c.1707A>C (p.Val569=) | |
13 | g.108209574T= | CA2117794259 | LIG4 | c.1494A= (p.Val498=) c.1695A= (p.Val565=) c.1731A= (p.Val577=) c.1707A= (p.Val569=) | |
13 | g.108209575A= | CA2117794260 | LIG4 | c.1493T= (p.Val498=) c.1694T= (p.Val565=) c.1730T= (p.Val577=) c.1706T= (p.Val569=) | |
13 | g.108209575A>C | CA388616419 | LIG4 | c.1493T>G (p.Val498Gly) c.1694T>G (p.Val565Gly) c.1730T>G (p.Val577Gly) c.1706T>G (p.Val569Gly) | |
13 | g.108209575A>G | CA7043637 | LIG4 | c.1493T>C (p.Val498Ala) c.1694T>C (p.Val565Ala) c.1730T>C (p.Val577Ala) c.1706T>C (p.Val569Ala) | dbSNP ExAC gnomAD v2 |
13 | g.108209575A>T | CA388616420 | LIG4 | c.1493T>A (p.Val498Glu) c.1694T>A (p.Val565Glu) c.1730T>A (p.Val577Glu) c.1706T>A (p.Val569Glu) | |
13 | g.108209576C>A | CA388616423 | LIG4 | c.1492G>T (p.Val498Leu) c.1693G>T (p.Val565Leu) c.1729G>T (p.Val577Leu) c.1705G>T (p.Val569Leu) | |
13 | g.108209576C= | CA2117794261 | LIG4 | c.1492G= (p.Val498=) c.1693G= (p.Val565=) c.1729G= (p.Val577=) c.1705G= (p.Val569=) | |
13 | g.108209576C>G | CA388616424 | LIG4 | c.1492G>C (p.Val498Leu) c.1693G>C (p.Val565Leu) c.1729G>C (p.Val577Leu) c.1705G>C (p.Val569Leu) | |
13 | g.108209576C>T | CA7043638 | LIG4 | c.1492G>A (p.Val498Ile) c.1693G>A (p.Val565Ile) c.1729G>A (p.Val577Ile) c.1705G>A (p.Val569Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209577G>A | CA7043639 | LIG4 | c.1491C>T (p.Ile497=) c.1692C>T (p.Ile564=) c.1728C>T (p.Ile576=) c.1704C>T (p.Ile568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209577G>C | CA388616425 | LIG4 | c.1491C>G (p.Ile497Met) c.1692C>G (p.Ile564Met) c.1728C>G (p.Ile576Met) c.1704C>G (p.Ile568Met) | |
13 | g.108209577G= | CA2117794262 | LIG4 | c.1491C= (p.Ile497=) c.1692C= (p.Ile564=) c.1728C= (p.Ile576=) c.1704C= (p.Ile568=) | |
13 | g.108209577G>T | CA484975327 | LIG4 | c.1491C>A (p.Ile497=) c.1692C>A (p.Ile564=) c.1728C>A (p.Ile576=) c.1704C>A (p.Ile568=) | dbSNP gnomAD v3 gnomAD v4 |