Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108211050_108211072del | CA2623644564 | LIG4 | c.-1_22del c.201_223del (p.Met68ArgfsTer10) c.237_259del (p.Met80ArgfsTer10) c.213_235del (p.Met72ArgfsTer10) | gnomAD v4 |
13 | g.108211057A= | CA2117794852 | LIG4 | c.11T= (p.Ile4=) c.212T= (p.Ile71=) c.248T= (p.Ile83=) c.224T= (p.Ile75=) | |
13 | g.108211057A>C | CA388624008 | LIG4 | c.11T>G (p.Ile4Ser) c.212T>G (p.Ile71Ser) c.248T>G (p.Ile83Ser) c.224T>G (p.Ile75Ser) | |
13 | g.108211057A>G | CA388624010 | LIG4 | c.11T>C (p.Ile4Thr) c.212T>C (p.Ile71Thr) c.248T>C (p.Ile83Thr) c.224T>C (p.Ile75Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108211057A>T | CA388624012 | LIG4 | c.11T>A (p.Ile4Asn) c.212T>A (p.Ile71Asn) c.248T>A (p.Ile83Asn) c.224T>A (p.Ile75Asn) | |
13 | g.108211058T>A | CA388624014 | LIG4 | c.10A>T (p.Ile4Phe) c.211A>T (p.Ile71Phe) c.247A>T (p.Ile83Phe) c.223A>T (p.Ile75Phe) | gnomAD v4 |
13 | g.108211058T>C | CA388624016 | LIG4 | c.10A>G (p.Ile4Val) c.211A>G (p.Ile71Val) c.247A>G (p.Ile83Val) c.223A>G (p.Ile75Val) | gnomAD v4 |
13 | g.108211058T>G | CA388624018 | LIG4 | c.10A>C (p.Ile4Leu) c.211A>C (p.Ile71Leu) c.247A>C (p.Ile83Leu) c.223A>C (p.Ile75Leu) | |
13 | g.108211059T>A | CA484976209 | LIG4 | c.9A>T (p.Leu3=) c.210A>T (p.Leu70=) c.246A>T (p.Leu82=) c.222A>T (p.Leu74=) | |
13 | g.108211059T>C | CA484976211 | LIG4 | c.9A>G (p.Leu3=) c.210A>G (p.Leu70=) c.246A>G (p.Leu82=) c.222A>G (p.Leu74=) | |
13 | g.108211059T>G | CA484976210 | LIG4 | c.9A>C (p.Leu3=) c.210A>C (p.Leu70=) c.246A>C (p.Leu82=) c.222A>C (p.Leu74=) | |
13 | g.108211060A>C | CA388624023 | LIG4 | c.8T>G (p.Leu3Arg) c.209T>G (p.Leu70Arg) c.245T>G (p.Leu82Arg) c.221T>G (p.Leu74Arg) | |
13 | g.108211060A>G | CA388624022 | LIG4 | c.8T>C (p.Leu3Pro) c.209T>C (p.Leu70Pro) c.245T>C (p.Leu82Pro) c.221T>C (p.Leu74Pro) | ClinVar dbSNP |
13 | g.108211060A>T | CA388624020 | LIG4 | c.8T>A (p.Leu3Gln) c.209T>A (p.Leu70Gln) c.245T>A (p.Leu82Gln) c.221T>A (p.Leu74Gln) | |
13 | g.108211061G>A | CA256182867 | LIG4 | c.7C>T (p.Leu3=) c.208C>T (p.Leu70=) c.244C>T (p.Leu82=) c.220C>T (p.Leu74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108211061G>C | CA7043871 | LIG4 | c.7C>G (p.Leu3Val) c.208C>G (p.Leu70Val) c.244C>G (p.Leu82Val) c.220C>G (p.Leu74Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108211061G= | CA2117794853 | LIG4 | c.7C= (p.Leu3=) c.208C= (p.Leu70=) c.244C= (p.Leu82=) c.220C= (p.Leu74=) | |
13 | g.108211061G>T | CA388624028 | LIG4 | c.7C>A (p.Leu3Ile) c.208C>A (p.Leu70Ile) c.244C>A (p.Leu82Ile) c.220C>A (p.Leu74Ile) | |
13 | g.108211062T>A | CA388624030 | LIG4 | c.6A>T (p.Arg2Ser) c.207A>T (p.Arg69Ser) c.243A>T (p.Arg81Ser) c.219A>T (p.Arg73Ser) | dbSNP gnomAD v2 |
13 | g.108211062T>C | CA484976215 | LIG4 | c.6A>G (p.Arg2=) c.207A>G (p.Arg69=) c.243A>G (p.Arg81=) c.219A>G (p.Arg73=) | gnomAD v4 |
13 | g.108211062T>G | CA388624031 | LIG4 | c.6A>C (p.Arg2Ser) c.207A>C (p.Arg69Ser) c.243A>C (p.Arg81Ser) c.219A>C (p.Arg73Ser) | |
13 | g.108211062T= | CA2117794854 | LIG4 | c.6A= (p.Arg2=) c.207A= (p.Arg69=) c.243A= (p.Arg81=) c.219A= (p.Arg73=) | |
13 | g.108211063C>A | CA388624033 | LIG4 | c.5G>T (p.Arg2Ile) c.206G>T (p.Arg69Ile) c.242G>T (p.Arg81Ile) c.218G>T (p.Arg73Ile) | |
13 | g.108211063C>G | CA388624035 | LIG4 | c.5G>C (p.Arg2Thr) c.206G>C (p.Arg69Thr) c.242G>C (p.Arg81Thr) c.218G>C (p.Arg73Thr) | |
13 | g.108211063C>T | CA388624037 | LIG4 | c.5G>A (p.Arg2Lys) c.206G>A (p.Arg69Lys) c.242G>A (p.Arg81Lys) c.218G>A (p.Arg73Lys) | |
13 | g.108211064T>A | CA388624039 | LIG4 | c.4A>T (p.Arg2Ter) c.205A>T (p.Arg69Ter) c.241A>T (p.Arg81Ter) c.217A>T (p.Arg73Ter) | |
13 | g.108211064T>C | CA388624042 | LIG4 | c.4A>G (p.Arg2Gly) c.205A>G (p.Arg69Gly) c.241A>G (p.Arg81Gly) c.217A>G (p.Arg73Gly) | |
13 | g.108211064T>G | CA484976219 | LIG4 | c.4A>C (p.Arg2=) c.205A>C (p.Arg69=) c.241A>C (p.Arg81=) c.217A>C (p.Arg73=) | |
13 | g.108211065C>A | CA388624044 | LIG4 | c.3G>T (p.Met1Ile) c.204G>T (p.Met68Ile) c.240G>T (p.Met80Ile) c.216G>T (p.Met72Ile) | |
13 | g.108211065C= | CA2117794855 | LIG4 | c.3G= (p.Met1=) c.204G= (p.Met68=) c.240G= (p.Met80=) c.216G= (p.Met72=) | |
13 | g.108211065C>G | CA388624046 | LIG4 | c.3G>C (p.Met1Ile) c.204G>C (p.Met68Ile) c.240G>C (p.Met80Ile) c.216G>C (p.Met72Ile) | |
13 | g.108211065C>T | CA388624048 | LIG4 | c.3G>A (p.Met1Ile) c.204G>A (p.Met68Ile) c.240G>A (p.Met80Ile) c.216G>A (p.Met72Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108211066A>C | CA388624052 | LIG4 | c.2T>G (p.Met1Arg) c.203T>G (p.Met68Arg) c.239T>G (p.Met80Arg) c.215T>G (p.Met72Arg) | gnomAD v4 |
13 | g.108211066A>G | CA388624054 | LIG4 | c.2T>C (p.Met1Thr) c.203T>C (p.Met68Thr) c.239T>C (p.Met80Thr) c.215T>C (p.Met72Thr) | |
13 | g.108211066A>T | CA388624050 | LIG4 | c.2T>A (p.Met1Lys) c.203T>A (p.Met68Lys) c.239T>A (p.Met80Lys) c.215T>A (p.Met72Lys) | |
13 | g.108211067T>A | CA388624056 | LIG4 | c.1A>T (p.Met1Leu) c.202A>T (p.Met68Leu) c.238A>T (p.Met80Leu) c.214A>T (p.Met72Leu) | |
13 | g.108211067T>C | CA388624059 | LIG4 | c.1A>G (p.Met1Val) c.202A>G (p.Met68Val) c.238A>G (p.Met80Val) c.214A>G (p.Met72Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108211067T>G | CA388624058 | LIG4 | c.1A>C (p.Met1Leu) c.202A>C (p.Met68Leu) c.238A>C (p.Met80Leu) c.214A>C (p.Met72Leu) | |
13 | g.108211067T= | CA2117794856 | LIG4 | c.1A= (p.Met1=) c.202A= (p.Met68=) c.238A= (p.Met80=) c.214A= (p.Met72=) | |
13 | g.108211068T>A | CA484976223 | LIG4 | c.-1A>T (n.-1A>T) c.201A>T (p.Ala67=) c.237A>T (p.Ala79=) c.213A>T (p.Ala71=) | |
13 | g.108211068T>C | CA484976224 | LIG4 | c.-1A>G (n.-1A>G) c.201A>G (p.Ala67=) c.237A>G (p.Ala79=) c.213A>G (p.Ala71=) | gnomAD v4 |
13 | g.108211068T>G | CA484976225 | LIG4 | c.-1A>C (n.-1A>C) c.201A>C (p.Ala67=) c.237A>C (p.Ala79=) c.213A>C (p.Ala71=) | |
13 | g.108211069G>A | CA388624061 | LIG4 | c.-2C>T (n.-2C>T) c.200C>T (p.Ala67Val) c.236C>T (p.Ala79Val) c.212C>T (p.Ala71Val) | |
13 | g.108211069G>C | CA388624063 | LIG4 | c.-2C>G (n.-2C>G) c.200C>G (p.Ala67Gly) c.236C>G (p.Ala79Gly) c.212C>G (p.Ala71Gly) | |
13 | g.108211069G= | CA2117794857 | LIG4 | c.-2C= (n.-2C=) c.200C= (p.Ala67=) c.236C= (p.Ala79=) c.212C= (p.Ala71=) | |
13 | g.108211069G>T | CA388624065 | LIG4 | c.-2C>A (n.-2C>A) c.200C>A (p.Ala67Glu) c.236C>A (p.Ala79Glu) c.212C>A (p.Ala71Glu) | dbSNP |
13 | g.108211070C>A | CA388624067 | LIG4 | c.-3G>T (n.-3G>T) c.199G>T (p.Ala67Ser) c.235G>T (p.Ala79Ser) c.211G>T (p.Ala71Ser) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108211070C= | CA2117794858 | LIG4 | c.-3G= (n.-3G=) c.199G= (p.Ala67=) c.235G= (p.Ala79=) c.211G= (p.Ala71=) | |
13 | g.108211070C>G | CA388624068 | LIG4 | c.-3G>C (n.-3G>C) c.199G>C (p.Ala67Pro) c.235G>C (p.Ala79Pro) c.211G>C (p.Ala71Pro) | |
13 | g.108211070C>T | CA388624070 | LIG4 | c.-3G>A (n.-3G>A) c.199G>A (p.Ala67Thr) c.235G>A (p.Ala79Thr) c.211G>A (p.Ala71Thr) |