UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236880719T>C | CA2651189013 | MTR | c.2595-36T>C (n.2595-36T>C) c.2442-36T>C (n.2442-36T>C) c.*1637-36T>C (n.*1637-36T>C) c.*1339-36T>C (n.*1339-36T>C) c.2247-36T>C (n.2247-36T>C) n.2909-36T>C c.2406-36T>C (n.2406-36T>C) n.3039-36T>C c.2415-36T>C (n.2415-36T>C) c.2157-36T>C (n.2157-36T>C) n.2789-36T>C c.1257-36T>C (n.1257-36T>C) c.1374-36T>C (n.1374-36T>C) c.2592-36T>C (n.2592-36T>C) c.1659-36T>C (n.1659-36T>C) c.2763-36T>C (n.2763-36T>C) c.2610-36T>C (n.2610-36T>C) c.2574-36T>C (n.2574-36T>C) | gnomAD v4 |
| 1 | g.236880719T>G | CA733258963 | MTR | c.2595-36T>G (n.2595-36T>G) c.2442-36T>G (n.2442-36T>G) c.*1637-36T>G (n.*1637-36T>G) c.*1339-36T>G (n.*1339-36T>G) c.2247-36T>G (n.2247-36T>G) n.2909-36T>G c.2406-36T>G (n.2406-36T>G) n.3039-36T>G c.2415-36T>G (n.2415-36T>G) c.2157-36T>G (n.2157-36T>G) n.2789-36T>G c.1257-36T>G (n.1257-36T>G) c.1374-36T>G (n.1374-36T>G) c.2592-36T>G (n.2592-36T>G) c.1659-36T>G (n.1659-36T>G) c.2763-36T>G (n.2763-36T>G) c.2610-36T>G (n.2610-36T>G) c.2574-36T>G (n.2574-36T>G) | dbSNP |
| 1 | g.236880719T= | CA2487101812 | MTR | c.2595-36T= (n.2595-36T=) c.2442-36T= (n.2442-36T=) c.*1637-36T= (n.*1637-36T=) c.*1339-36T= (n.*1339-36T=) c.2247-36T= (n.2247-36T=) n.2909-36T= c.2406-36T= (n.2406-36T=) n.3039-36T= c.2415-36T= (n.2415-36T=) c.2157-36T= (n.2157-36T=) n.2789-36T= c.1257-36T= (n.1257-36T=) c.1374-36T= (n.1374-36T=) c.2592-36T= (n.2592-36T=) c.1659-36T= (n.1659-36T=) c.2763-36T= (n.2763-36T=) c.2610-36T= (n.2610-36T=) c.2574-36T= (n.2574-36T=) | |
| 1 | g.236880720G>A | CA2651189014 | MTR | c.2595-35G>A (n.2595-35G>A) c.2442-35G>A (n.2442-35G>A) c.*1637-35G>A (n.*1637-35G>A) c.*1339-35G>A (n.*1339-35G>A) c.2247-35G>A (n.2247-35G>A) n.2909-35G>A c.2406-35G>A (n.2406-35G>A) n.3039-35G>A c.2415-35G>A (n.2415-35G>A) c.2157-35G>A (n.2157-35G>A) n.2789-35G>A c.1257-35G>A (n.1257-35G>A) c.1374-35G>A (n.1374-35G>A) c.2592-35G>A (n.2592-35G>A) c.1659-35G>A (n.1659-35G>A) c.2763-35G>A (n.2763-35G>A) c.2610-35G>A (n.2610-35G>A) c.2574-35G>A (n.2574-35G>A) | gnomAD v4 |
| 1 | g.236880720G>C | CA2651189015 | MTR | c.2595-35G>C (n.2595-35G>C) c.2442-35G>C (n.2442-35G>C) c.*1637-35G>C (n.*1637-35G>C) c.*1339-35G>C (n.*1339-35G>C) c.2247-35G>C (n.2247-35G>C) n.2909-35G>C c.2406-35G>C (n.2406-35G>C) n.3039-35G>C c.2415-35G>C (n.2415-35G>C) c.2157-35G>C (n.2157-35G>C) n.2789-35G>C c.1257-35G>C (n.1257-35G>C) c.1374-35G>C (n.1374-35G>C) c.2592-35G>C (n.2592-35G>C) c.1659-35G>C (n.1659-35G>C) c.2763-35G>C (n.2763-35G>C) c.2610-35G>C (n.2610-35G>C) c.2574-35G>C (n.2574-35G>C) | gnomAD v4 |
| 1 | g.236880721A>T | CA2651189016 | MTR | c.2595-34A>T (n.2595-34A>T) c.2442-34A>T (n.2442-34A>T) c.*1637-34A>T (n.*1637-34A>T) c.*1339-34A>T (n.*1339-34A>T) c.2247-34A>T (n.2247-34A>T) n.2909-34A>T c.2406-34A>T (n.2406-34A>T) n.3039-34A>T c.2415-34A>T (n.2415-34A>T) c.2157-34A>T (n.2157-34A>T) n.2789-34A>T c.1257-34A>T (n.1257-34A>T) c.1374-34A>T (n.1374-34A>T) c.2592-34A>T (n.2592-34A>T) c.1659-34A>T (n.1659-34A>T) c.2763-34A>T (n.2763-34A>T) c.2610-34A>T (n.2610-34A>T) c.2574-34A>T (n.2574-34A>T) | gnomAD v4 |
| 1 | g.236880722T>C | CA2651189017 | MTR | c.2595-33T>C (n.2595-33T>C) c.2442-33T>C (n.2442-33T>C) c.*1637-33T>C (n.*1637-33T>C) c.*1339-33T>C (n.*1339-33T>C) c.2247-33T>C (n.2247-33T>C) n.2909-33T>C c.2406-33T>C (n.2406-33T>C) n.3039-33T>C c.2415-33T>C (n.2415-33T>C) c.2157-33T>C (n.2157-33T>C) n.2789-33T>C c.1257-33T>C (n.1257-33T>C) c.1374-33T>C (n.1374-33T>C) c.2592-33T>C (n.2592-33T>C) c.1659-33T>C (n.1659-33T>C) c.2763-33T>C (n.2763-33T>C) c.2610-33T>C (n.2610-33T>C) c.2574-33T>C (n.2574-33T>C) | gnomAD v4 |
| 1 | g.236880724G>A | CA529533160 | MTR | c.2595-31G>A (n.2595-31G>A) c.2442-31G>A (n.2442-31G>A) c.*1637-31G>A (n.*1637-31G>A) c.*1339-31G>A (n.*1339-31G>A) c.2247-31G>A (n.2247-31G>A) n.2909-31G>A c.2406-31G>A (n.2406-31G>A) n.3039-31G>A c.2415-31G>A (n.2415-31G>A) c.2157-31G>A (n.2157-31G>A) n.2789-31G>A c.1257-31G>A (n.1257-31G>A) c.1374-31G>A (n.1374-31G>A) c.2592-31G>A (n.2592-31G>A) c.1659-31G>A (n.1659-31G>A) c.2763-31G>A (n.2763-31G>A) c.2610-31G>A (n.2610-31G>A) c.2574-31G>A (n.2574-31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880724G= | CA2487101813 | MTR | c.2595-31G= (n.2595-31G=) c.2442-31G= (n.2442-31G=) c.*1637-31G= (n.*1637-31G=) c.*1339-31G= (n.*1339-31G=) c.2247-31G= (n.2247-31G=) n.2909-31G= c.2406-31G= (n.2406-31G=) n.3039-31G= c.2415-31G= (n.2415-31G=) c.2157-31G= (n.2157-31G=) n.2789-31G= c.1257-31G= (n.1257-31G=) c.1374-31G= (n.1374-31G=) c.2592-31G= (n.2592-31G=) c.1659-31G= (n.1659-31G=) c.2763-31G= (n.2763-31G=) c.2610-31G= (n.2610-31G=) c.2574-31G= (n.2574-31G=) | |
| 1 | g.236880725A>T | CA2651189018 | MTR | c.2595-30A>T (n.2595-30A>T) c.2442-30A>T (n.2442-30A>T) c.*1637-30A>T (n.*1637-30A>T) c.*1339-30A>T (n.*1339-30A>T) c.2247-30A>T (n.2247-30A>T) n.2909-30A>T c.2406-30A>T (n.2406-30A>T) n.3039-30A>T c.2415-30A>T (n.2415-30A>T) c.2157-30A>T (n.2157-30A>T) n.2789-30A>T c.1257-30A>T (n.1257-30A>T) c.1374-30A>T (n.1374-30A>T) c.2592-30A>T (n.2592-30A>T) c.1659-30A>T (n.1659-30A>T) c.2763-30A>T (n.2763-30A>T) c.2610-30A>T (n.2610-30A>T) c.2574-30A>T (n.2574-30A>T) | gnomAD v4 |
| 1 | g.236880727A= | CA1143471188 | MTR | c.2595-28A= (n.2595-28A=) c.2442-28A= (n.2442-28A=) c.*1637-28A= (n.*1637-28A=) c.*1339-28A= (n.*1339-28A=) c.2247-28A= (n.2247-28A=) n.2909-28A= c.2406-28A= (n.2406-28A=) n.3039-28A= c.2415-28A= (n.2415-28A=) c.2157-28A= (n.2157-28A=) n.2789-28A= c.1257-28A= (n.1257-28A=) c.1374-28A= (n.1374-28A=) c.2592-28A= (n.2592-28A=) c.1659-28A= (n.1659-28A=) c.2763-28A= (n.2763-28A=) c.2610-28A= (n.2610-28A=) c.2574-28A= (n.2574-28A=) | |
| 1 | g.236880727A>G | CA1474449 | MTR | c.2595-28A>G (n.2595-28A>G) c.2442-28A>G (n.2442-28A>G) c.*1637-28A>G (n.*1637-28A>G) c.*1339-28A>G (n.*1339-28A>G) c.2247-28A>G (n.2247-28A>G) n.2909-28A>G c.2406-28A>G (n.2406-28A>G) n.3039-28A>G c.2415-28A>G (n.2415-28A>G) c.2157-28A>G (n.2157-28A>G) n.2789-28A>G c.1257-28A>G (n.1257-28A>G) c.1374-28A>G (n.1374-28A>G) c.2592-28A>G (n.2592-28A>G) c.1659-28A>G (n.1659-28A>G) c.2763-28A>G (n.2763-28A>G) c.2610-28A>G (n.2610-28A>G) c.2574-28A>G (n.2574-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880731T>C | CA2651189019 | MTR | c.2595-24T>C (n.2595-24T>C) c.2442-24T>C (n.2442-24T>C) c.*1637-24T>C (n.*1637-24T>C) c.*1339-24T>C (n.*1339-24T>C) c.2247-24T>C (n.2247-24T>C) n.2909-24T>C c.2406-24T>C (n.2406-24T>C) n.3039-24T>C c.2415-24T>C (n.2415-24T>C) c.2157-24T>C (n.2157-24T>C) n.2789-24T>C c.1257-24T>C (n.1257-24T>C) c.1374-24T>C (n.1374-24T>C) c.2592-24T>C (n.2592-24T>C) c.1659-24T>C (n.1659-24T>C) c.2763-24T>C (n.2763-24T>C) c.2610-24T>C (n.2610-24T>C) c.2574-24T>C (n.2574-24T>C) | gnomAD v4 |
| 1 | g.236880735T>C | CA2651189020 | MTR | c.2595-20T>C (n.2595-20T>C) c.2442-20T>C (n.2442-20T>C) c.*1637-20T>C (n.*1637-20T>C) c.*1339-20T>C (n.*1339-20T>C) c.2247-20T>C (n.2247-20T>C) n.2909-20T>C c.2406-20T>C (n.2406-20T>C) n.3039-20T>C c.2415-20T>C (n.2415-20T>C) c.2157-20T>C (n.2157-20T>C) n.2789-20T>C c.1257-20T>C (n.1257-20T>C) c.1374-20T>C (n.1374-20T>C) c.2592-20T>C (n.2592-20T>C) c.1659-20T>C (n.1659-20T>C) c.2763-20T>C (n.2763-20T>C) c.2610-20T>C (n.2610-20T>C) c.2574-20T>C (n.2574-20T>C) | gnomAD v4 |
| 1 | g.236880737T>C | CA1474450 | MTR | c.2595-18T>C (n.2595-18T>C) c.2442-18T>C (n.2442-18T>C) c.*1637-18T>C (n.*1637-18T>C) c.*1339-18T>C (n.*1339-18T>C) c.2247-18T>C (n.2247-18T>C) n.2909-18T>C c.2406-18T>C (n.2406-18T>C) n.3039-18T>C c.2415-18T>C (n.2415-18T>C) c.2157-18T>C (n.2157-18T>C) n.2789-18T>C c.1257-18T>C (n.1257-18T>C) c.1374-18T>C (n.1374-18T>C) c.2592-18T>C (n.2592-18T>C) c.1659-18T>C (n.1659-18T>C) c.2763-18T>C (n.2763-18T>C) c.2610-18T>C (n.2610-18T>C) c.2574-18T>C (n.2574-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880737T= | CA2487101814 | MTR | c.2595-18T= (n.2595-18T=) c.2442-18T= (n.2442-18T=) c.*1637-18T= (n.*1637-18T=) c.*1339-18T= (n.*1339-18T=) c.2247-18T= (n.2247-18T=) n.2909-18T= c.2406-18T= (n.2406-18T=) n.3039-18T= c.2415-18T= (n.2415-18T=) c.2157-18T= (n.2157-18T=) n.2789-18T= c.1257-18T= (n.1257-18T=) c.1374-18T= (n.1374-18T=) c.2592-18T= (n.2592-18T=) c.1659-18T= (n.1659-18T=) c.2763-18T= (n.2763-18T=) c.2610-18T= (n.2610-18T=) c.2574-18T= (n.2574-18T=) | |
| 1 | g.236880738C>A | CA2567212017 | MTR | c.2595-17C>A (n.2595-17C>A) c.2442-17C>A (n.2442-17C>A) c.*1637-17C>A (n.*1637-17C>A) c.*1339-17C>A (n.*1339-17C>A) c.2247-17C>A (n.2247-17C>A) n.2909-17C>A c.2406-17C>A (n.2406-17C>A) n.3039-17C>A c.2415-17C>A (n.2415-17C>A) c.2157-17C>A (n.2157-17C>A) n.2789-17C>A c.1257-17C>A (n.1257-17C>A) c.1374-17C>A (n.1374-17C>A) c.2592-17C>A (n.2592-17C>A) c.1659-17C>A (n.1659-17C>A) c.2763-17C>A (n.2763-17C>A) c.2610-17C>A (n.2610-17C>A) c.2574-17C>A (n.2574-17C>A) | |
| 1 | g.236880738C= | CA2487101815 | MTR | c.2595-17C= (n.2595-17C=) c.2442-17C= (n.2442-17C=) c.*1637-17C= (n.*1637-17C=) c.*1339-17C= (n.*1339-17C=) c.2247-17C= (n.2247-17C=) n.2909-17C= c.2406-17C= (n.2406-17C=) n.3039-17C= c.2415-17C= (n.2415-17C=) c.2157-17C= (n.2157-17C=) n.2789-17C= c.1257-17C= (n.1257-17C=) c.1374-17C= (n.1374-17C=) c.2592-17C= (n.2592-17C=) c.1659-17C= (n.1659-17C=) c.2763-17C= (n.2763-17C=) c.2610-17C= (n.2610-17C=) c.2574-17C= (n.2574-17C=) | |
| 1 | g.236880738C>G | CA1013703239 | MTR | c.2595-17C>G (n.2595-17C>G) c.2442-17C>G (n.2442-17C>G) c.*1637-17C>G (n.*1637-17C>G) c.*1339-17C>G (n.*1339-17C>G) c.2247-17C>G (n.2247-17C>G) n.2909-17C>G c.2406-17C>G (n.2406-17C>G) n.3039-17C>G c.2415-17C>G (n.2415-17C>G) c.2157-17C>G (n.2157-17C>G) n.2789-17C>G c.1257-17C>G (n.1257-17C>G) c.1374-17C>G (n.1374-17C>G) c.2592-17C>G (n.2592-17C>G) c.1659-17C>G (n.1659-17C>G) c.2763-17C>G (n.2763-17C>G) c.2610-17C>G (n.2610-17C>G) c.2574-17C>G (n.2574-17C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.236880738C>T | CA2574163032 | MTR | c.2595-17C>T (n.2595-17C>T) c.2442-17C>T (n.2442-17C>T) c.*1637-17C>T (n.*1637-17C>T) c.*1339-17C>T (n.*1339-17C>T) c.2247-17C>T (n.2247-17C>T) n.2909-17C>T c.2406-17C>T (n.2406-17C>T) n.3039-17C>T c.2415-17C>T (n.2415-17C>T) c.2157-17C>T (n.2157-17C>T) n.2789-17C>T c.1257-17C>T (n.1257-17C>T) c.1374-17C>T (n.1374-17C>T) c.2592-17C>T (n.2592-17C>T) c.1659-17C>T (n.1659-17C>T) c.2763-17C>T (n.2763-17C>T) c.2610-17C>T (n.2610-17C>T) c.2574-17C>T (n.2574-17C>T) | gnomAD v4 |
| 1 | g.236880739T>C | CA733258986 | MTR | c.2595-16T>C (n.2595-16T>C) c.2442-16T>C (n.2442-16T>C) c.*1637-16T>C (n.*1637-16T>C) c.*1339-16T>C (n.*1339-16T>C) c.2247-16T>C (n.2247-16T>C) n.2909-16T>C c.2406-16T>C (n.2406-16T>C) n.3039-16T>C c.2415-16T>C (n.2415-16T>C) c.2157-16T>C (n.2157-16T>C) n.2789-16T>C c.1257-16T>C (n.1257-16T>C) c.1374-16T>C (n.1374-16T>C) c.2592-16T>C (n.2592-16T>C) c.1659-16T>C (n.1659-16T>C) c.2763-16T>C (n.2763-16T>C) c.2610-16T>C (n.2610-16T>C) c.2574-16T>C (n.2574-16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.236880739T= | CA2487101816 | MTR | c.2595-16T= (n.2595-16T=) c.2442-16T= (n.2442-16T=) c.*1637-16T= (n.*1637-16T=) c.*1339-16T= (n.*1339-16T=) c.2247-16T= (n.2247-16T=) n.2909-16T= c.2406-16T= (n.2406-16T=) n.3039-16T= c.2415-16T= (n.2415-16T=) c.2157-16T= (n.2157-16T=) n.2789-16T= c.1257-16T= (n.1257-16T=) c.1374-16T= (n.1374-16T=) c.2592-16T= (n.2592-16T=) c.1659-16T= (n.1659-16T=) c.2763-16T= (n.2763-16T=) c.2610-16T= (n.2610-16T=) c.2574-16T= (n.2574-16T=) | |
| 1 | g.236880742C= | CA2487101817 | MTR | c.2595-13C= (n.2595-13C=) c.2442-13C= (n.2442-13C=) c.*1637-13C= (n.*1637-13C=) c.*1339-13C= (n.*1339-13C=) c.2247-13C= (n.2247-13C=) n.2909-13C= c.2406-13C= (n.2406-13C=) n.3039-13C= c.2415-13C= (n.2415-13C=) c.2157-13C= (n.2157-13C=) n.2789-13C= c.1257-13C= (n.1257-13C=) c.1374-13C= (n.1374-13C=) c.2592-13C= (n.2592-13C=) c.1659-13C= (n.1659-13C=) c.2763-13C= (n.2763-13C=) c.2610-13C= (n.2610-13C=) c.2574-13C= (n.2574-13C=) | |
| 1 | g.236880742C>T | CA529533162 | MTR | c.2595-13C>T (n.2595-13C>T) c.2442-13C>T (n.2442-13C>T) c.*1637-13C>T (n.*1637-13C>T) c.*1339-13C>T (n.*1339-13C>T) c.2247-13C>T (n.2247-13C>T) n.2909-13C>T c.2406-13C>T (n.2406-13C>T) n.3039-13C>T c.2415-13C>T (n.2415-13C>T) c.2157-13C>T (n.2157-13C>T) n.2789-13C>T c.1257-13C>T (n.1257-13C>T) c.1374-13C>T (n.1374-13C>T) c.2592-13C>T (n.2592-13C>T) c.1659-13C>T (n.1659-13C>T) c.2763-13C>T (n.2763-13C>T) c.2610-13C>T (n.2610-13C>T) c.2574-13C>T (n.2574-13C>T) | dbSNP gnomAD v2 |
| 1 | g.236880743C= | CA1148303209 | MTR | c.2595-12C= (n.2595-12C=) c.2442-12C= (n.2442-12C=) c.*1637-12C= (n.*1637-12C=) c.*1339-12C= (n.*1339-12C=) c.2247-12C= (n.2247-12C=) n.2909-12C= c.2406-12C= (n.2406-12C=) n.3039-12C= c.2415-12C= (n.2415-12C=) c.2157-12C= (n.2157-12C=) n.2789-12C= c.1257-12C= (n.1257-12C=) c.1374-12C= (n.1374-12C=) c.2592-12C= (n.2592-12C=) c.1659-12C= (n.1659-12C=) c.2763-12C= (n.2763-12C=) c.2610-12C= (n.2610-12C=) c.2574-12C= (n.2574-12C=) | |
| 1 | g.236880743C>T | CA1474451 | MTR | c.2595-12C>T (n.2595-12C>T) c.2442-12C>T (n.2442-12C>T) c.*1637-12C>T (n.*1637-12C>T) c.*1339-12C>T (n.*1339-12C>T) c.2247-12C>T (n.2247-12C>T) n.2909-12C>T c.2406-12C>T (n.2406-12C>T) n.3039-12C>T c.2415-12C>T (n.2415-12C>T) c.2157-12C>T (n.2157-12C>T) n.2789-12C>T c.1257-12C>T (n.1257-12C>T) c.1374-12C>T (n.1374-12C>T) c.2592-12C>T (n.2592-12C>T) c.1659-12C>T (n.1659-12C>T) c.2763-12C>T (n.2763-12C>T) c.2610-12C>T (n.2610-12C>T) c.2574-12C>T (n.2574-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880744C= | CA2487101818 | MTR | c.2595-11C= (n.2595-11C=) c.2442-11C= (n.2442-11C=) c.*1637-11C= (n.*1637-11C=) c.*1339-11C= (n.*1339-11C=) c.2247-11C= (n.2247-11C=) n.2909-11C= c.2406-11C= (n.2406-11C=) n.3039-11C= c.2415-11C= (n.2415-11C=) c.2157-11C= (n.2157-11C=) n.2789-11C= c.1257-11C= (n.1257-11C=) c.1374-11C= (n.1374-11C=) c.2592-11C= (n.2592-11C=) c.1659-11C= (n.1659-11C=) c.2763-11C= (n.2763-11C=) c.2610-11C= (n.2610-11C=) c.2574-11C= (n.2574-11C=) | |
| 1 | g.236880747_236880750dup | CA2487101819 | MTR | c.2595-8_2595-5dup (n.2595-8_2595-5dup) c.2442-8_2442-5dup (n.2442-8_2442-5dup) c.*1637-8_*1637-5dup (n.*1637-8_*1637-5dup) c.*1339-8_*1339-5dup (n.*1339-8_*1339-5dup) c.2247-8_2247-5dup (n.2247-8_2247-5dup) n.2909-8_2909-5dup c.2406-8_2406-5dup (n.2406-8_2406-5dup) n.3039-8_3039-5dup c.2415-8_2415-5dup (n.2415-8_2415-5dup) c.2157-8_2157-5dup (n.2157-8_2157-5dup) n.2789-8_2789-5dup c.1257-8_1257-5dup (n.1257-8_1257-5dup) c.1374-8_1374-5dup (n.1374-8_1374-5dup) c.2592-8_2592-5dup (n.2592-8_2592-5dup) c.1659-8_1659-5dup (n.1659-8_1659-5dup) c.2763-8_2763-5dup (n.2763-8_2763-5dup) c.2610-8_2610-5dup (n.2610-8_2610-5dup) c.2574-8_2574-5dup (n.2574-8_2574-5dup) | dbSNP gnomAD v4 |
| 1 | g.236880747C= | CA2487101821 | MTR | c.2595-8C= (n.2595-8C=) c.2442-8C= (n.2442-8C=) c.*1637-8C= (n.*1637-8C=) c.*1339-8C= (n.*1339-8C=) c.2247-8C= (n.2247-8C=) n.2909-8C= c.2406-8C= (n.2406-8C=) n.3039-8C= c.2415-8C= (n.2415-8C=) c.2157-8C= (n.2157-8C=) n.2789-8C= c.1257-8C= (n.1257-8C=) c.1374-8C= (n.1374-8C=) c.2592-8C= (n.2592-8C=) c.1659-8C= (n.1659-8C=) c.2763-8C= (n.2763-8C=) c.2610-8C= (n.2610-8C=) c.2574-8C= (n.2574-8C=) | |
| 1 | g.236880747C>G | CA529533163 | MTR | c.2595-8C>G (n.2595-8C>G) c.2442-8C>G (n.2442-8C>G) c.*1637-8C>G (n.*1637-8C>G) c.*1339-8C>G (n.*1339-8C>G) c.2247-8C>G (n.2247-8C>G) n.2909-8C>G c.2406-8C>G (n.2406-8C>G) n.3039-8C>G c.2415-8C>G (n.2415-8C>G) c.2157-8C>G (n.2157-8C>G) n.2789-8C>G c.1257-8C>G (n.1257-8C>G) c.1374-8C>G (n.1374-8C>G) c.2592-8C>G (n.2592-8C>G) c.1659-8C>G (n.1659-8C>G) c.2763-8C>G (n.2763-8C>G) c.2610-8C>G (n.2610-8C>G) c.2574-8C>G (n.2574-8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236880747C>T | CA2697555044 | MTR | c.2595-8C>T (n.2595-8C>T) c.2442-8C>T (n.2442-8C>T) c.*1637-8C>T (n.*1637-8C>T) c.*1339-8C>T (n.*1339-8C>T) c.2247-8C>T (n.2247-8C>T) n.2909-8C>T c.2406-8C>T (n.2406-8C>T) n.3039-8C>T c.2415-8C>T (n.2415-8C>T) c.2157-8C>T (n.2157-8C>T) n.2789-8C>T c.1257-8C>T (n.1257-8C>T) c.1374-8C>T (n.1374-8C>T) c.2592-8C>T (n.2592-8C>T) c.1659-8C>T (n.1659-8C>T) c.2763-8C>T (n.2763-8C>T) c.2610-8C>T (n.2610-8C>T) c.2574-8C>T (n.2574-8C>T) | ClinVar |
| 1 | g.236880747_236880748delinsCT | CA2487101820 | MTR | c.2595-8_2595-7delinsCT (n.2595-8_2595-7delinsCT) c.2442-8_2442-7delinsCT (n.2442-8_2442-7delinsCT) c.*1637-8_*1637-7delinsCT (n.*1637-8_*1637-7delinsCT) c.*1339-8_*1339-7delinsCT (n.*1339-8_*1339-7delinsCT) c.2247-8_2247-7delinsCT (n.2247-8_2247-7delinsCT) n.2909-8_2909-7delinsCT c.2406-8_2406-7delinsCT (n.2406-8_2406-7delinsCT) n.3039-8_3039-7delinsCT c.2415-8_2415-7delinsCT (n.2415-8_2415-7delinsCT) c.2157-8_2157-7delinsCT (n.2157-8_2157-7delinsCT) n.2789-8_2789-7delinsCT c.1257-8_1257-7delinsCT (n.1257-8_1257-7delinsCT) c.1374-8_1374-7delinsCT (n.1374-8_1374-7delinsCT) c.2592-8_2592-7delinsCT (n.2592-8_2592-7delinsCT) c.1659-8_1659-7delinsCT (n.1659-8_1659-7delinsCT) c.2763-8_2763-7delinsCT (n.2763-8_2763-7delinsCT) c.2610-8_2610-7delinsCT (n.2610-8_2610-7delinsCT) c.2574-8_2574-7delinsCT (n.2574-8_2574-7delinsCT) | |
| 1 | g.236880748T>C | CA2651189021 | MTR | c.2595-7T>C (n.2595-7T>C) c.2442-7T>C (n.2442-7T>C) c.*1637-7T>C (n.*1637-7T>C) c.*1339-7T>C (n.*1339-7T>C) c.2247-7T>C (n.2247-7T>C) n.2909-7T>C c.2406-7T>C (n.2406-7T>C) n.3039-7T>C c.2415-7T>C (n.2415-7T>C) c.2157-7T>C (n.2157-7T>C) n.2789-7T>C c.1257-7T>C (n.1257-7T>C) c.1374-7T>C (n.1374-7T>C) c.2592-7T>C (n.2592-7T>C) c.1659-7T>C (n.1659-7T>C) c.2763-7T>C (n.2763-7T>C) c.2610-7T>C (n.2610-7T>C) c.2574-7T>C (n.2574-7T>C) | gnomAD v4 |
| 1 | g.236880748T>G | CA1474453 | MTR | c.2595-7T>G (n.2595-7T>G) c.2442-7T>G (n.2442-7T>G) c.*1637-7T>G (n.*1637-7T>G) c.*1339-7T>G (n.*1339-7T>G) c.2247-7T>G (n.2247-7T>G) n.2909-7T>G c.2406-7T>G (n.2406-7T>G) n.3039-7T>G c.2415-7T>G (n.2415-7T>G) c.2157-7T>G (n.2157-7T>G) n.2789-7T>G c.1257-7T>G (n.1257-7T>G) c.1374-7T>G (n.1374-7T>G) c.2592-7T>G (n.2592-7T>G) c.1659-7T>G (n.1659-7T>G) c.2763-7T>G (n.2763-7T>G) c.2610-7T>G (n.2610-7T>G) c.2574-7T>G (n.2574-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880748T= | CA2487101822 | MTR | c.2595-7T= (n.2595-7T=) c.2442-7T= (n.2442-7T=) c.*1637-7T= (n.*1637-7T=) c.*1339-7T= (n.*1339-7T=) c.2247-7T= (n.2247-7T=) n.2909-7T= c.2406-7T= (n.2406-7T=) n.3039-7T= c.2415-7T= (n.2415-7T=) c.2157-7T= (n.2157-7T=) n.2789-7T= c.1257-7T= (n.1257-7T=) c.1374-7T= (n.1374-7T=) c.2592-7T= (n.2592-7T=) c.1659-7T= (n.1659-7T=) c.2763-7T= (n.2763-7T=) c.2610-7T= (n.2610-7T=) c.2574-7T= (n.2574-7T=) | |
| 1 | g.236880752del | CA1474452 | MTR | c.2595-3del (n.2595-3del) c.2442-3del (n.2442-3del) c.*1637-3del (n.*1637-3del) c.*1339-3del (n.*1339-3del) c.2247-3del (n.2247-3del) n.2909-3del c.2406-3del (n.2406-3del) n.3039-3del c.2415-3del (n.2415-3del) c.2157-3del (n.2157-3del) n.2789-3del c.1257-3del (n.1257-3del) c.1374-3del (n.1374-3del) c.2592-3del (n.2592-3del) c.1659-3del (n.1659-3del) c.2763-3del (n.2763-3del) c.2610-3del (n.2610-3del) c.2574-3del (n.2574-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880751T>G | CA2487101824 | MTR | c.2595-4T>G (n.2595-4T>G) c.2442-4T>G (n.2442-4T>G) c.*1637-4T>G (n.*1637-4T>G) c.*1339-4T>G (n.*1339-4T>G) c.2247-4T>G (n.2247-4T>G) n.2909-4T>G c.2406-4T>G (n.2406-4T>G) n.3039-4T>G c.2415-4T>G (n.2415-4T>G) c.2157-4T>G (n.2157-4T>G) n.2789-4T>G c.1257-4T>G (n.1257-4T>G) c.1374-4T>G (n.1374-4T>G) c.2592-4T>G (n.2592-4T>G) c.1659-4T>G (n.1659-4T>G) c.2763-4T>G (n.2763-4T>G) c.2610-4T>G (n.2610-4T>G) c.2574-4T>G (n.2574-4T>G) | dbSNP |
| 1 | g.236880751T= | CA2487101823 | MTR | c.2595-4T= (n.2595-4T=) c.2442-4T= (n.2442-4T=) c.*1637-4T= (n.*1637-4T=) c.*1339-4T= (n.*1339-4T=) c.2247-4T= (n.2247-4T=) n.2909-4T= c.2406-4T= (n.2406-4T=) n.3039-4T= c.2415-4T= (n.2415-4T=) c.2157-4T= (n.2157-4T=) n.2789-4T= c.1257-4T= (n.1257-4T=) c.1374-4T= (n.1374-4T=) c.2592-4T= (n.2592-4T=) c.1659-4T= (n.1659-4T=) c.2763-4T= (n.2763-4T=) c.2610-4T= (n.2610-4T=) c.2574-4T= (n.2574-4T=) | |
| 1 | g.236880752T>C | CA2513564610 | MTR | c.2595-3T>C (n.2595-3T>C) c.2442-3T>C (n.2442-3T>C) c.*1637-3T>C (n.*1637-3T>C) c.*1339-3T>C (n.*1339-3T>C) c.2247-3T>C (n.2247-3T>C) n.2909-3T>C c.2406-3T>C (n.2406-3T>C) n.3039-3T>C c.2415-3T>C (n.2415-3T>C) c.2157-3T>C (n.2157-3T>C) n.2789-3T>C c.1257-3T>C (n.1257-3T>C) c.1374-3T>C (n.1374-3T>C) c.2592-3T>C (n.2592-3T>C) c.1659-3T>C (n.1659-3T>C) c.2763-3T>C (n.2763-3T>C) c.2610-3T>C (n.2610-3T>C) c.2574-3T>C (n.2574-3T>C) | |
| 1 | g.236880753A= | CA2487101825 | MTR | c.2595-2A= (n.2595-2A=) c.2442-2A= (n.2442-2A=) c.*1637-2A= (n.*1637-2A=) c.*1339-2A= (n.*1339-2A=) c.2247-2A= (n.2247-2A=) n.2909-2A= c.2406-2A= (n.2406-2A=) n.3039-2A= c.2415-2A= (n.2415-2A=) c.2157-2A= (n.2157-2A=) n.2789-2A= c.1257-2A= (n.1257-2A=) c.1374-2A= (n.1374-2A=) c.2592-2A= (n.2592-2A=) c.1659-2A= (n.1659-2A=) c.2763-2A= (n.2763-2A=) c.2610-2A= (n.2610-2A=) c.2574-2A= (n.2574-2A=) | |
| 1 | g.236880753A>C | CA345382768 | MTR | c.2595-2A>C (n.2595-2A>C) c.2442-2A>C (n.2442-2A>C) c.*1637-2A>C (n.*1637-2A>C) c.*1339-2A>C (n.*1339-2A>C) c.2247-2A>C (n.2247-2A>C) n.2909-2A>C c.2406-2A>C (n.2406-2A>C) n.3039-2A>C c.2415-2A>C (n.2415-2A>C) c.2157-2A>C (n.2157-2A>C) n.2789-2A>C c.1257-2A>C (n.1257-2A>C) c.1374-2A>C (n.1374-2A>C) c.2592-2A>C (n.2592-2A>C) c.1659-2A>C (n.1659-2A>C) c.2763-2A>C (n.2763-2A>C) c.2610-2A>C (n.2610-2A>C) c.2574-2A>C (n.2574-2A>C) | |
| 1 | g.236880753A>G | CA345382771 | MTR | c.2595-2A>G (n.2595-2A>G) c.2442-2A>G (n.2442-2A>G) c.*1637-2A>G (n.*1637-2A>G) c.*1339-2A>G (n.*1339-2A>G) c.2247-2A>G (n.2247-2A>G) n.2909-2A>G c.2406-2A>G (n.2406-2A>G) n.3039-2A>G c.2415-2A>G (n.2415-2A>G) c.2157-2A>G (n.2157-2A>G) n.2789-2A>G c.1257-2A>G (n.1257-2A>G) c.1374-2A>G (n.1374-2A>G) c.2592-2A>G (n.2592-2A>G) c.1659-2A>G (n.1659-2A>G) c.2763-2A>G (n.2763-2A>G) c.2610-2A>G (n.2610-2A>G) c.2574-2A>G (n.2574-2A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.236880753A>T | CA345382773 | MTR | c.2595-2A>T (n.2595-2A>T) c.2442-2A>T (n.2442-2A>T) c.*1637-2A>T (n.*1637-2A>T) c.*1339-2A>T (n.*1339-2A>T) c.2247-2A>T (n.2247-2A>T) n.2909-2A>T c.2406-2A>T (n.2406-2A>T) n.3039-2A>T c.2415-2A>T (n.2415-2A>T) c.2157-2A>T (n.2157-2A>T) n.2789-2A>T c.1257-2A>T (n.1257-2A>T) c.1374-2A>T (n.1374-2A>T) c.2592-2A>T (n.2592-2A>T) c.1659-2A>T (n.1659-2A>T) c.2763-2A>T (n.2763-2A>T) c.2610-2A>T (n.2610-2A>T) c.2574-2A>T (n.2574-2A>T) | |
| 1 | g.236880754G>A | CA345382775 | MTR | c.2595-1G>A (n.2595-1G>A) c.2442-1G>A (n.2442-1G>A) c.*1637-1G>A (n.*1637-1G>A) c.*1339-1G>A (n.*1339-1G>A) c.2247-1G>A (n.2247-1G>A) n.2909-1G>A c.2406-1G>A (n.2406-1G>A) n.3039-1G>A c.2415-1G>A (n.2415-1G>A) c.2157-1G>A (n.2157-1G>A) n.2789-1G>A c.1257-1G>A (n.1257-1G>A) c.1374-1G>A (n.1374-1G>A) c.2592-1G>A (n.2592-1G>A) c.1659-1G>A (n.1659-1G>A) c.2763-1G>A (n.2763-1G>A) c.2610-1G>A (n.2610-1G>A) c.2574-1G>A (n.2574-1G>A) | |
| 1 | g.236880754G>C | CA345382777 | MTR | c.2595-1G>C (n.2595-1G>C) c.2442-1G>C (n.2442-1G>C) c.*1637-1G>C (n.*1637-1G>C) c.*1339-1G>C (n.*1339-1G>C) c.2247-1G>C (n.2247-1G>C) n.2909-1G>C c.2406-1G>C (n.2406-1G>C) n.3039-1G>C c.2415-1G>C (n.2415-1G>C) c.2157-1G>C (n.2157-1G>C) n.2789-1G>C c.1257-1G>C (n.1257-1G>C) c.1374-1G>C (n.1374-1G>C) c.2592-1G>C (n.2592-1G>C) c.1659-1G>C (n.1659-1G>C) c.2763-1G>C (n.2763-1G>C) c.2610-1G>C (n.2610-1G>C) c.2574-1G>C (n.2574-1G>C) | |
| 1 | g.236880754G>T | CA345382782 | MTR | c.2595-1G>T (n.2595-1G>T) c.2442-1G>T (n.2442-1G>T) c.*1637-1G>T (n.*1637-1G>T) c.*1339-1G>T (n.*1339-1G>T) c.2247-1G>T (n.2247-1G>T) n.2909-1G>T c.2406-1G>T (n.2406-1G>T) n.3039-1G>T c.2415-1G>T (n.2415-1G>T) c.2157-1G>T (n.2157-1G>T) n.2789-1G>T c.1257-1G>T (n.1257-1G>T) c.1374-1G>T (n.1374-1G>T) c.2592-1G>T (n.2592-1G>T) c.1659-1G>T (n.1659-1G>T) c.2763-1G>T (n.2763-1G>T) c.2610-1G>T (n.2610-1G>T) c.2574-1G>T (n.2574-1G>T) | |
| 1 | g.236880755A= | CA2487101826 | MTR | c.2595A= (p.Lys865=) c.2442A= (p.Lys814=) c.*1637A= (n.*1637A=) c.*1339A= (n.*1339A=) c.2247A= (p.Lys749=) n.2909A= c.2406A= (p.Arg802=) n.3039A= c.2415A= (p.Lys805=) c.2157A= (p.Lys719=) n.2789A= c.1257A= (p.Lys419=) c.1374A= (p.Lys458=) c.2592A= (p.Lys864=) c.1659A= (p.Lys553=) c.2763A= (p.Lys921=) c.2610A= (p.Lys870=) c.2574A= (p.Arg858=) | |
| 1 | g.236880755A>C | CA345382785 | MTR | c.2595A>C (p.Lys865Asn) c.2442A>C (p.Lys814Asn) c.*1637A>C (n.*1637A>C) c.*1339A>C (n.*1339A>C) c.2247A>C (p.Lys749Asn) n.2909A>C c.2406A>C (p.Arg802=) n.3039A>C c.2415A>C (p.Lys805Asn) c.2157A>C (p.Lys719Asn) n.2789A>C c.1257A>C (p.Lys419Asn) c.1374A>C (p.Lys458Asn) c.2592A>C (p.Lys864Asn) c.1659A>C (p.Lys553Asn) c.2763A>C (p.Lys921Asn) c.2610A>C (p.Lys870Asn) c.2574A>C (p.Arg858=) | |
| 1 | g.236880755A>G | CA39763182 | MTR | c.2595A>G (p.Lys865=) c.2442A>G (p.Lys814=) c.*1637A>G (n.*1637A>G) c.*1339A>G (n.*1339A>G) c.2247A>G (p.Lys749=) n.2909A>G c.2406A>G (p.Arg802=) n.3039A>G c.2415A>G (p.Lys805=) c.2157A>G (p.Lys719=) n.2789A>G c.1257A>G (p.Lys419=) c.1374A>G (p.Lys458=) c.2592A>G (p.Lys864=) c.1659A>G (p.Lys553=) c.2763A>G (p.Lys921=) c.2610A>G (p.Lys870=) c.2574A>G (p.Arg858=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880755A>T | CA345382786 | MTR | c.2595A>T (p.Lys865Asn) c.2442A>T (p.Lys814Asn) c.*1637A>T (n.*1637A>T) c.*1339A>T (n.*1339A>T) c.2247A>T (p.Lys749Asn) n.2909A>T c.2406A>T (p.Arg802=) n.3039A>T c.2415A>T (p.Lys805Asn) c.2157A>T (p.Lys719Asn) n.2789A>T c.1257A>T (p.Lys419Asn) c.1374A>T (p.Lys458Asn) c.2592A>T (p.Lys864Asn) c.1659A>T (p.Lys553Asn) c.2763A>T (p.Lys921Asn) c.2610A>T (p.Lys870Asn) c.2574A>T (p.Arg858=) | |
| 1 | g.236880756A>C | CA345382790 | MTR | c.2596A>C (p.Thr866Pro) c.2443A>C (p.Thr815Pro) c.*1638A>C (n.*1638A>C) c.*1340A>C (n.*1340A>C) c.2248A>C (p.Thr750Pro) n.2910A>C c.2407A>C (p.Thr803Pro) n.3040A>C c.2416A>C (p.Thr806Pro) c.2158A>C (p.Thr720Pro) n.2790A>C c.1258A>C (p.Thr420Pro) c.1375A>C (p.Thr459Pro) c.2593A>C (p.Thr865Pro) c.1660A>C (p.Thr554Pro) c.2764A>C (p.Thr922Pro) c.2611A>C (p.Thr871Pro) c.2575A>C (p.Thr859Pro) | |
| 1 | g.236880756A>G | CA345382788 | MTR | c.2596A>G (p.Thr866Ala) c.2443A>G (p.Thr815Ala) c.*1638A>G (n.*1638A>G) c.*1340A>G (n.*1340A>G) c.2248A>G (p.Thr750Ala) n.2910A>G c.2407A>G (p.Thr803Ala) n.3040A>G c.2416A>G (p.Thr806Ala) c.2158A>G (p.Thr720Ala) n.2790A>G c.1258A>G (p.Thr420Ala) c.1375A>G (p.Thr459Ala) c.2593A>G (p.Thr865Ala) c.1660A>G (p.Thr554Ala) c.2764A>G (p.Thr922Ala) c.2611A>G (p.Thr871Ala) c.2575A>G (p.Thr859Ala) | gnomAD v4 |
| 1 | g.236880756A>T | CA345382787 | MTR | c.2596A>T (p.Thr866Ser) c.2443A>T (p.Thr815Ser) c.*1638A>T (n.*1638A>T) c.*1340A>T (n.*1340A>T) c.2248A>T (p.Thr750Ser) n.2910A>T c.2407A>T (p.Thr803Ser) n.3040A>T c.2416A>T (p.Thr806Ser) c.2158A>T (p.Thr720Ser) n.2790A>T c.1258A>T (p.Thr420Ser) c.1375A>T (p.Thr459Ser) c.2593A>T (p.Thr865Ser) c.1660A>T (p.Thr554Ser) c.2764A>T (p.Thr922Ser) c.2611A>T (p.Thr871Ser) c.2575A>T (p.Thr859Ser) | |
| 1 | g.236880757C>A | CA345382793 | MTR | c.2597C>A (p.Thr866Asn) c.2444C>A (p.Thr815Asn) c.*1639C>A (n.*1639C>A) c.*1341C>A (n.*1341C>A) c.2249C>A (p.Thr750Asn) n.2911C>A c.2408C>A (p.Thr803Asn) n.3041C>A c.2417C>A (p.Thr806Asn) c.2159C>A (p.Thr720Asn) n.2791C>A c.1259C>A (p.Thr420Asn) c.1376C>A (p.Thr459Asn) c.2594C>A (p.Thr865Asn) c.1661C>A (p.Thr554Asn) c.2765C>A (p.Thr922Asn) c.2612C>A (p.Thr871Asn) c.2576C>A (p.Thr859Asn) | dbSNP |
| 1 | g.236880757C= | CA2487101827 | MTR | c.2597C= (p.Thr866=) c.2444C= (p.Thr815=) c.*1639C= (n.*1639C=) c.*1341C= (n.*1341C=) c.2249C= (p.Thr750=) n.2911C= c.2408C= (p.Thr803=) n.3041C= c.2417C= (p.Thr806=) c.2159C= (p.Thr720=) n.2791C= c.1259C= (p.Thr420=) c.1376C= (p.Thr459=) c.2594C= (p.Thr865=) c.1661C= (p.Thr554=) c.2765C= (p.Thr922=) c.2612C= (p.Thr871=) c.2576C= (p.Thr859=) | |
| 1 | g.236880757C>G | CA345382797 | MTR | c.2597C>G (p.Thr866Ser) c.2444C>G (p.Thr815Ser) c.*1639C>G (n.*1639C>G) c.*1341C>G (n.*1341C>G) c.2249C>G (p.Thr750Ser) n.2911C>G c.2408C>G (p.Thr803Ser) n.3041C>G c.2417C>G (p.Thr806Ser) c.2159C>G (p.Thr720Ser) n.2791C>G c.1259C>G (p.Thr420Ser) c.1376C>G (p.Thr459Ser) c.2594C>G (p.Thr865Ser) c.1661C>G (p.Thr554Ser) c.2765C>G (p.Thr922Ser) c.2612C>G (p.Thr871Ser) c.2576C>G (p.Thr859Ser) | |
| 1 | g.236880757C>T | CA345382799 | MTR | c.2597C>T (p.Thr866Ile) c.2444C>T (p.Thr815Ile) c.*1639C>T (n.*1639C>T) c.*1341C>T (n.*1341C>T) c.2249C>T (p.Thr750Ile) n.2911C>T c.2408C>T (p.Thr803Ile) n.3041C>T c.2417C>T (p.Thr806Ile) c.2159C>T (p.Thr720Ile) n.2791C>T c.1259C>T (p.Thr420Ile) c.1376C>T (p.Thr459Ile) c.2594C>T (p.Thr865Ile) c.1661C>T (p.Thr554Ile) c.2765C>T (p.Thr922Ile) c.2612C>T (p.Thr871Ile) c.2576C>T (p.Thr859Ile) | gnomAD v4 |
| 1 | g.236880759del | CA2651189022 | MTR | c.2599del (p.His867ThrfsTer6) c.2446del (p.His816ThrfsTer6) c.*1641del (n.*1641del) c.*1343del (n.*1343del) c.2251del (p.His751ThrfsTer6) n.2913del c.2410del (p.His804ThrfsTer6) n.3043del c.2419del (p.His807ThrfsTer6) c.2161del (p.His721ThrfsTer6) n.2793del c.1261del (p.His421ThrfsTer6) c.1378del (p.His460ThrfsTer6) c.2596del (p.His866ThrfsTer6) c.1663del (p.His555ThrfsTer6) c.2767del (p.His923ThrfsTer6) c.2614del (p.His872ThrfsTer6) c.2578del (p.His860ThrfsTer6) | gnomAD v4 |
| 1 | g.236880758C>A | CA423815841 | MTR | c.2598C>A (p.Thr866=) c.2445C>A (p.Thr815=) c.*1640C>A (n.*1640C>A) c.*1342C>A (n.*1342C>A) c.2250C>A (p.Thr750=) n.2912C>A c.2409C>A (p.Thr803=) n.3042C>A c.2418C>A (p.Thr806=) c.2160C>A (p.Thr720=) n.2792C>A c.1260C>A (p.Thr420=) c.1377C>A (p.Thr459=) c.2595C>A (p.Thr865=) c.1662C>A (p.Thr554=) c.2766C>A (p.Thr922=) c.2613C>A (p.Thr871=) c.2577C>A (p.Thr859=) | |
| 1 | g.236880758C>G | CA423815843 | MTR | c.2598C>G (p.Thr866=) c.2445C>G (p.Thr815=) c.*1640C>G (n.*1640C>G) c.*1342C>G (n.*1342C>G) c.2250C>G (p.Thr750=) n.2912C>G c.2409C>G (p.Thr803=) n.3042C>G c.2418C>G (p.Thr806=) c.2160C>G (p.Thr720=) n.2792C>G c.1260C>G (p.Thr420=) c.1377C>G (p.Thr459=) c.2595C>G (p.Thr865=) c.1662C>G (p.Thr554=) c.2766C>G (p.Thr922=) c.2613C>G (p.Thr871=) c.2577C>G (p.Thr859=) | |
| 1 | g.236880758C>T | CA423815846 | MTR | c.2598C>T (p.Thr866=) c.2445C>T (p.Thr815=) c.*1640C>T (n.*1640C>T) c.*1342C>T (n.*1342C>T) c.2250C>T (p.Thr750=) n.2912C>T c.2409C>T (p.Thr803=) n.3042C>T c.2418C>T (p.Thr806=) c.2160C>T (p.Thr720=) n.2792C>T c.1260C>T (p.Thr420=) c.1377C>T (p.Thr459=) c.2595C>T (p.Thr865=) c.1662C>T (p.Thr554=) c.2766C>T (p.Thr922=) c.2613C>T (p.Thr871=) c.2577C>T (p.Thr859=) | ClinVar |
| 1 | g.236880759C>A | CA345382810 | MTR | c.2599C>A (p.His867Asn) c.2446C>A (p.His816Asn) c.*1641C>A (n.*1641C>A) c.*1343C>A (n.*1343C>A) c.2251C>A (p.His751Asn) n.2913C>A c.2410C>A (p.His804Asn) n.3043C>A c.2419C>A (p.His807Asn) c.2161C>A (p.His721Asn) n.2793C>A c.1261C>A (p.His421Asn) c.1378C>A (p.His460Asn) c.2596C>A (p.His866Asn) c.1663C>A (p.His555Asn) c.2767C>A (p.His923Asn) c.2614C>A (p.His872Asn) c.2578C>A (p.His860Asn) | |
| 1 | g.236880759C>G | CA345382813 | MTR | c.2599C>G (p.His867Asp) c.2446C>G (p.His816Asp) c.*1641C>G (n.*1641C>G) c.*1343C>G (n.*1343C>G) c.2251C>G (p.His751Asp) n.2913C>G c.2410C>G (p.His804Asp) n.3043C>G c.2419C>G (p.His807Asp) c.2161C>G (p.His721Asp) n.2793C>G c.1261C>G (p.His421Asp) c.1378C>G (p.His460Asp) c.2596C>G (p.His866Asp) c.1663C>G (p.His555Asp) c.2767C>G (p.His923Asp) c.2614C>G (p.His872Asp) c.2578C>G (p.His860Asp) | |
| 1 | g.236880759C>T | CA345382814 | MTR | c.2599C>T (p.His867Tyr) c.2446C>T (p.His816Tyr) c.*1641C>T (n.*1641C>T) c.*1343C>T (n.*1343C>T) c.2251C>T (p.His751Tyr) n.2913C>T c.2410C>T (p.His804Tyr) n.3043C>T c.2419C>T (p.His807Tyr) c.2161C>T (p.His721Tyr) n.2793C>T c.1261C>T (p.His421Tyr) c.1378C>T (p.His460Tyr) c.2596C>T (p.His866Tyr) c.1663C>T (p.His555Tyr) c.2767C>T (p.His923Tyr) c.2614C>T (p.His872Tyr) c.2578C>T (p.His860Tyr) | gnomAD v4 |
| 1 | g.236880760A>C | CA345382815 | MTR | c.2600A>C (p.His867Pro) c.2447A>C (p.His816Pro) c.*1642A>C (n.*1642A>C) c.*1344A>C (n.*1344A>C) c.2252A>C (p.His751Pro) n.2914A>C c.2411A>C (p.His804Pro) n.3044A>C c.2420A>C (p.His807Pro) c.2162A>C (p.His721Pro) n.2794A>C c.1262A>C (p.His421Pro) c.1379A>C (p.His460Pro) c.2597A>C (p.His866Pro) c.1664A>C (p.His555Pro) c.2768A>C (p.His923Pro) c.2615A>C (p.His872Pro) c.2579A>C (p.His860Pro) | |
| 1 | g.236880760A>G | CA345382817 | MTR | c.2600A>G (p.His867Arg) c.2447A>G (p.His816Arg) c.*1642A>G (n.*1642A>G) c.*1344A>G (n.*1344A>G) c.2252A>G (p.His751Arg) n.2914A>G c.2411A>G (p.His804Arg) n.3044A>G c.2420A>G (p.His807Arg) c.2162A>G (p.His721Arg) n.2794A>G c.1262A>G (p.His421Arg) c.1379A>G (p.His460Arg) c.2597A>G (p.His866Arg) c.1664A>G (p.His555Arg) c.2768A>G (p.His923Arg) c.2615A>G (p.His872Arg) c.2579A>G (p.His860Arg) | |
| 1 | g.236880760A>T | CA345382819 | MTR | c.2600A>T (p.His867Leu) c.2447A>T (p.His816Leu) c.*1642A>T (n.*1642A>T) c.*1344A>T (n.*1344A>T) c.2252A>T (p.His751Leu) n.2914A>T c.2411A>T (p.His804Leu) n.3044A>T c.2420A>T (p.His807Leu) c.2162A>T (p.His721Leu) n.2794A>T c.1262A>T (p.His421Leu) c.1379A>T (p.His460Leu) c.2597A>T (p.His866Leu) c.1664A>T (p.His555Leu) c.2768A>T (p.His923Leu) c.2615A>T (p.His872Leu) c.2579A>T (p.His860Leu) | |
| 1 | g.236880761C>A | CA345382822 | MTR | c.2601C>A (p.His867Gln) c.2448C>A (p.His816Gln) c.*1643C>A (n.*1643C>A) c.*1345C>A (n.*1345C>A) c.2253C>A (p.His751Gln) n.2915C>A c.2412C>A (p.His804Gln) n.3045C>A c.2421C>A (p.His807Gln) c.2163C>A (p.His721Gln) n.2795C>A c.1263C>A (p.His421Gln) c.1380C>A (p.His460Gln) c.2598C>A (p.His866Gln) c.1665C>A (p.His555Gln) c.2769C>A (p.His923Gln) c.2616C>A (p.His872Gln) c.2580C>A (p.His860Gln) | |
| 1 | g.236880761C= | CA2487101828 | MTR | c.2601C= (p.His867=) c.2448C= (p.His816=) c.*1643C= (n.*1643C=) c.*1345C= (n.*1345C=) c.2253C= (p.His751=) n.2915C= c.2412C= (p.His804=) n.3045C= c.2421C= (p.His807=) c.2163C= (p.His721=) n.2795C= c.1263C= (p.His421=) c.1380C= (p.His460=) c.2598C= (p.His866=) c.1665C= (p.His555=) c.2769C= (p.His923=) c.2616C= (p.His872=) c.2580C= (p.His860=) | |
| 1 | g.236880761C>G | CA345382828 | MTR | c.2601C>G (p.His867Gln) c.2448C>G (p.His816Gln) c.*1643C>G (n.*1643C>G) c.*1345C>G (n.*1345C>G) c.2253C>G (p.His751Gln) n.2915C>G c.2412C>G (p.His804Gln) n.3045C>G c.2421C>G (p.His807Gln) c.2163C>G (p.His721Gln) n.2795C>G c.1263C>G (p.His421Gln) c.1380C>G (p.His460Gln) c.2598C>G (p.His866Gln) c.1665C>G (p.His555Gln) c.2769C>G (p.His923Gln) c.2616C>G (p.His872Gln) c.2580C>G (p.His860Gln) | |
| 1 | g.236880761C>T | CA423815865 | MTR | c.2601C>T (p.His867=) c.2448C>T (p.His816=) c.*1643C>T (n.*1643C>T) c.*1345C>T (n.*1345C>T) c.2253C>T (p.His751=) n.2915C>T c.2412C>T (p.His804=) n.3045C>T c.2421C>T (p.His807=) c.2163C>T (p.His721=) n.2795C>T c.1263C>T (p.His421=) c.1380C>T (p.His460=) c.2598C>T (p.His866=) c.1665C>T (p.His555=) c.2769C>T (p.His923=) c.2616C>T (p.His872=) c.2580C>T (p.His860=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880762A= | CA2487101829 | MTR | c.2602A= (p.Thr868=) c.2449A= (p.Thr817=) c.*1644A= (n.*1644A=) c.*1346A= (n.*1346A=) c.2254A= (p.Thr752=) n.2916A= c.2413A= (p.Thr805=) n.3046A= c.2422A= (p.Thr808=) c.2164A= (p.Thr722=) n.2796A= c.1264A= (p.Thr422=) c.1381A= (p.Thr461=) c.2599A= (p.Thr867=) c.1666A= (p.Thr556=) c.2770A= (p.Thr924=) c.2617A= (p.Thr873=) c.2581A= (p.Thr861=) | |
| 1 | g.236880762A>C | CA345382831 | MTR | c.2602A>C (p.Thr868Pro) c.2449A>C (p.Thr817Pro) c.*1644A>C (n.*1644A>C) c.*1346A>C (n.*1346A>C) c.2254A>C (p.Thr752Pro) n.2916A>C c.2413A>C (p.Thr805Pro) n.3046A>C c.2422A>C (p.Thr808Pro) c.2164A>C (p.Thr722Pro) n.2796A>C c.1264A>C (p.Thr422Pro) c.1381A>C (p.Thr461Pro) c.2599A>C (p.Thr867Pro) c.1666A>C (p.Thr556Pro) c.2770A>C (p.Thr924Pro) c.2617A>C (p.Thr873Pro) c.2581A>C (p.Thr861Pro) | gnomAD v4 |
| 1 | g.236880762A>G | CA1474454 | MTR | c.2602A>G (p.Thr868Ala) c.2449A>G (p.Thr817Ala) c.*1644A>G (n.*1644A>G) c.*1346A>G (n.*1346A>G) c.2254A>G (p.Thr752Ala) n.2916A>G c.2413A>G (p.Thr805Ala) n.3046A>G c.2422A>G (p.Thr808Ala) c.2164A>G (p.Thr722Ala) n.2796A>G c.1264A>G (p.Thr422Ala) c.1381A>G (p.Thr461Ala) c.2599A>G (p.Thr867Ala) c.1666A>G (p.Thr556Ala) c.2770A>G (p.Thr924Ala) c.2617A>G (p.Thr873Ala) c.2581A>G (p.Thr861Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880762A>T | CA345382834 | MTR | c.2602A>T (p.Thr868Ser) c.2449A>T (p.Thr817Ser) c.*1644A>T (n.*1644A>T) c.*1346A>T (n.*1346A>T) c.2254A>T (p.Thr752Ser) n.2916A>T c.2413A>T (p.Thr805Ser) n.3046A>T c.2422A>T (p.Thr808Ser) c.2164A>T (p.Thr722Ser) n.2796A>T c.1264A>T (p.Thr422Ser) c.1381A>T (p.Thr461Ser) c.2599A>T (p.Thr867Ser) c.1666A>T (p.Thr556Ser) c.2770A>T (p.Thr924Ser) c.2617A>T (p.Thr873Ser) c.2581A>T (p.Thr861Ser) | |
| 1 | g.236880763C>A | CA345382841 | MTR | c.2603C>A (p.Thr868Lys) c.2450C>A (p.Thr817Lys) c.*1645C>A (n.*1645C>A) c.*1347C>A (n.*1347C>A) c.2255C>A (p.Thr752Lys) n.2917C>A c.2414C>A (p.Thr805Lys) n.3047C>A c.2423C>A (p.Thr808Lys) c.2165C>A (p.Thr722Lys) n.2797C>A c.1265C>A (p.Thr422Lys) c.1382C>A (p.Thr461Lys) c.2600C>A (p.Thr867Lys) c.1667C>A (p.Thr556Lys) c.2771C>A (p.Thr924Lys) c.2618C>A (p.Thr873Lys) c.2582C>A (p.Thr861Lys) | |
| 1 | g.236880763C>G | CA345382848 | MTR | c.2603C>G (p.Thr868Arg) c.2450C>G (p.Thr817Arg) c.*1645C>G (n.*1645C>G) c.*1347C>G (n.*1347C>G) c.2255C>G (p.Thr752Arg) n.2917C>G c.2414C>G (p.Thr805Arg) n.3047C>G c.2423C>G (p.Thr808Arg) c.2165C>G (p.Thr722Arg) n.2797C>G c.1265C>G (p.Thr422Arg) c.1382C>G (p.Thr461Arg) c.2600C>G (p.Thr867Arg) c.1667C>G (p.Thr556Arg) c.2771C>G (p.Thr924Arg) c.2618C>G (p.Thr873Arg) c.2582C>G (p.Thr861Arg) | gnomAD v4 |
| 1 | g.236880763C>T | CA345382838 | MTR | c.2603C>T (p.Thr868Ile) c.2450C>T (p.Thr817Ile) c.*1645C>T (n.*1645C>T) c.*1347C>T (n.*1347C>T) c.2255C>T (p.Thr752Ile) n.2917C>T c.2414C>T (p.Thr805Ile) n.3047C>T c.2423C>T (p.Thr808Ile) c.2165C>T (p.Thr722Ile) n.2797C>T c.1265C>T (p.Thr422Ile) c.1382C>T (p.Thr461Ile) c.2600C>T (p.Thr867Ile) c.1667C>T (p.Thr556Ile) c.2771C>T (p.Thr924Ile) c.2618C>T (p.Thr873Ile) c.2582C>T (p.Thr861Ile) | |
| 1 | g.236880764A>C | CA423815881 | MTR | c.2604A>C (p.Thr868=) c.2451A>C (p.Thr817=) c.*1646A>C (n.*1646A>C) c.*1348A>C (n.*1348A>C) c.2256A>C (p.Thr752=) n.2918A>C c.2415A>C (p.Thr805=) n.3048A>C c.2424A>C (p.Thr808=) c.2166A>C (p.Thr722=) n.2798A>C c.1266A>C (p.Thr422=) c.1383A>C (p.Thr461=) c.2601A>C (p.Thr867=) c.1668A>C (p.Thr556=) c.2772A>C (p.Thr924=) c.2619A>C (p.Thr873=) c.2583A>C (p.Thr861=) | |
| 1 | g.236880764A>G | CA423815883 | MTR | c.2604A>G (p.Thr868=) c.2451A>G (p.Thr817=) c.*1646A>G (n.*1646A>G) c.*1348A>G (n.*1348A>G) c.2256A>G (p.Thr752=) n.2918A>G c.2415A>G (p.Thr805=) n.3048A>G c.2424A>G (p.Thr808=) c.2166A>G (p.Thr722=) n.2798A>G c.1266A>G (p.Thr422=) c.1383A>G (p.Thr461=) c.2601A>G (p.Thr867=) c.1668A>G (p.Thr556=) c.2772A>G (p.Thr924=) c.2619A>G (p.Thr873=) c.2583A>G (p.Thr861=) | gnomAD v4 |
| 1 | g.236880764A>T | CA423815886 | MTR | c.2604A>T (p.Thr868=) c.2451A>T (p.Thr817=) c.*1646A>T (n.*1646A>T) c.*1348A>T (n.*1348A>T) c.2256A>T (p.Thr752=) n.2918A>T c.2415A>T (p.Thr805=) n.3048A>T c.2424A>T (p.Thr808=) c.2166A>T (p.Thr722=) n.2798A>T c.1266A>T (p.Thr422=) c.1383A>T (p.Thr461=) c.2601A>T (p.Thr867=) c.1668A>T (p.Thr556=) c.2772A>T (p.Thr924=) c.2619A>T (p.Thr873=) c.2583A>T (p.Thr861=) | |
| 1 | g.236880765G>A | CA345382853 | MTR | c.2605G>A (p.Ala869Thr) c.2452G>A (p.Ala818Thr) c.*1647G>A (n.*1647G>A) c.*1349G>A (n.*1349G>A) c.2257G>A (p.Ala753Thr) n.2919G>A c.2416G>A (p.Ala806Thr) n.3049G>A c.2425G>A (p.Ala809Thr) c.2167G>A (p.Ala723Thr) n.2799G>A c.1267G>A (p.Ala423Thr) c.1384G>A (p.Ala462Thr) c.2602G>A (p.Ala868Thr) c.1669G>A (p.Ala557Thr) c.2773G>A (p.Ala925Thr) c.2620G>A (p.Ala874Thr) c.2584G>A (p.Ala862Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236880765G>C | CA345382856 | MTR | c.2605G>C (p.Ala869Pro) c.2452G>C (p.Ala818Pro) c.*1647G>C (n.*1647G>C) c.*1349G>C (n.*1349G>C) c.2257G>C (p.Ala753Pro) n.2919G>C c.2416G>C (p.Ala806Pro) n.3049G>C c.2425G>C (p.Ala809Pro) c.2167G>C (p.Ala723Pro) n.2799G>C c.1267G>C (p.Ala423Pro) c.1384G>C (p.Ala462Pro) c.2602G>C (p.Ala868Pro) c.1669G>C (p.Ala557Pro) c.2773G>C (p.Ala925Pro) c.2620G>C (p.Ala874Pro) c.2584G>C (p.Ala862Pro) | |
| 1 | g.236880765G= | CA2487101830 | MTR | c.2605G= (p.Ala869=) c.2452G= (p.Ala818=) c.*1647G= (n.*1647G=) c.*1349G= (n.*1349G=) c.2257G= (p.Ala753=) n.2919G= c.2416G= (p.Ala806=) n.3049G= c.2425G= (p.Ala809=) c.2167G= (p.Ala723=) n.2799G= c.1267G= (p.Ala423=) c.1384G= (p.Ala462=) c.2602G= (p.Ala868=) c.1669G= (p.Ala557=) c.2773G= (p.Ala925=) c.2620G= (p.Ala874=) c.2584G= (p.Ala862=) | |
| 1 | g.236880765G>T | CA345382858 | MTR | c.2605G>T (p.Ala869Ser) c.2452G>T (p.Ala818Ser) c.*1647G>T (n.*1647G>T) c.*1349G>T (n.*1349G>T) c.2257G>T (p.Ala753Ser) n.2919G>T c.2416G>T (p.Ala806Ser) n.3049G>T c.2425G>T (p.Ala809Ser) c.2167G>T (p.Ala723Ser) n.2799G>T c.1267G>T (p.Ala423Ser) c.1384G>T (p.Ala462Ser) c.2602G>T (p.Ala868Ser) c.1669G>T (p.Ala557Ser) c.2773G>T (p.Ala925Ser) c.2620G>T (p.Ala874Ser) c.2584G>T (p.Ala862Ser) | |
| 1 | g.236880766C>A | CA345382861 | MTR | c.2606C>A (p.Ala869Glu) c.2453C>A (p.Ala818Glu) c.*1648C>A (n.*1648C>A) c.*1350C>A (n.*1350C>A) c.2258C>A (p.Ala753Glu) n.2920C>A c.2417C>A (p.Ala806Glu) n.3050C>A c.2426C>A (p.Ala809Glu) c.2168C>A (p.Ala723Glu) n.2800C>A c.1268C>A (p.Ala423Glu) c.1385C>A (p.Ala462Glu) c.2603C>A (p.Ala868Glu) c.1670C>A (p.Ala557Glu) c.2774C>A (p.Ala925Glu) c.2621C>A (p.Ala874Glu) c.2585C>A (p.Ala862Glu) | |
| 1 | g.236880766C>G | CA345382862 | MTR | c.2606C>G (p.Ala869Gly) c.2453C>G (p.Ala818Gly) c.*1648C>G (n.*1648C>G) c.*1350C>G (n.*1350C>G) c.2258C>G (p.Ala753Gly) n.2920C>G c.2417C>G (p.Ala806Gly) n.3050C>G c.2426C>G (p.Ala809Gly) c.2168C>G (p.Ala723Gly) n.2800C>G c.1268C>G (p.Ala423Gly) c.1385C>G (p.Ala462Gly) c.2603C>G (p.Ala868Gly) c.1670C>G (p.Ala557Gly) c.2774C>G (p.Ala925Gly) c.2621C>G (p.Ala874Gly) c.2585C>G (p.Ala862Gly) | |
| 1 | g.236880766C>T | CA345382875 | MTR | c.2606C>T (p.Ala869Val) c.2453C>T (p.Ala818Val) c.*1648C>T (n.*1648C>T) c.*1350C>T (n.*1350C>T) c.2258C>T (p.Ala753Val) n.2920C>T c.2417C>T (p.Ala806Val) n.3050C>T c.2426C>T (p.Ala809Val) c.2168C>T (p.Ala723Val) n.2800C>T c.1268C>T (p.Ala423Val) c.1385C>T (p.Ala462Val) c.2603C>T (p.Ala868Val) c.1670C>T (p.Ala557Val) c.2774C>T (p.Ala925Val) c.2621C>T (p.Ala874Val) c.2585C>T (p.Ala862Val) | |
| 1 | g.236880767A>C | CA423815902 | MTR | c.2607A>C (p.Ala869=) c.2454A>C (p.Ala818=) c.*1649A>C (n.*1649A>C) c.*1351A>C (n.*1351A>C) c.2259A>C (p.Ala753=) n.2921A>C c.2418A>C (p.Ala806=) n.3051A>C c.2427A>C (p.Ala809=) c.2169A>C (p.Ala723=) n.2801A>C c.1269A>C (p.Ala423=) c.1386A>C (p.Ala462=) c.2604A>C (p.Ala868=) c.1671A>C (p.Ala557=) c.2775A>C (p.Ala925=) c.2622A>C (p.Ala874=) c.2586A>C (p.Ala862=) | |
| 1 | g.236880767A>G | CA423815905 | MTR | c.2607A>G (p.Ala869=) c.2454A>G (p.Ala818=) c.*1649A>G (n.*1649A>G) c.*1351A>G (n.*1351A>G) c.2259A>G (p.Ala753=) n.2921A>G c.2418A>G (p.Ala806=) n.3051A>G c.2427A>G (p.Ala809=) c.2169A>G (p.Ala723=) n.2801A>G c.1269A>G (p.Ala423=) c.1386A>G (p.Ala462=) c.2604A>G (p.Ala868=) c.1671A>G (p.Ala557=) c.2775A>G (p.Ala925=) c.2622A>G (p.Ala874=) c.2586A>G (p.Ala862=) | |
| 1 | g.236880767A>T | CA423815907 | MTR | c.2607A>T (p.Ala869=) c.2454A>T (p.Ala818=) c.*1649A>T (n.*1649A>T) c.*1351A>T (n.*1351A>T) c.2259A>T (p.Ala753=) n.2921A>T c.2418A>T (p.Ala806=) n.3051A>T c.2427A>T (p.Ala809=) c.2169A>T (p.Ala723=) n.2801A>T c.1269A>T (p.Ala423=) c.1386A>T (p.Ala462=) c.2604A>T (p.Ala868=) c.1671A>T (p.Ala557=) c.2775A>T (p.Ala925=) c.2622A>T (p.Ala874=) c.2586A>T (p.Ala862=) | |
| 1 | g.236880768G>A | CA345382876 | MTR | c.2608G>A (p.Val870Ile) c.2455G>A (p.Val819Ile) c.*1650G>A (n.*1650G>A) c.*1352G>A (n.*1352G>A) c.2260G>A (p.Val754Ile) n.2922G>A c.2419G>A (p.Val807Ile) n.3052G>A c.2428G>A (p.Val810Ile) c.2170G>A (p.Val724Ile) n.2802G>A c.1270G>A (p.Val424Ile) c.1387G>A (p.Val463Ile) c.2605G>A (p.Val869Ile) c.1672G>A (p.Val558Ile) c.2776G>A (p.Val926Ile) c.2623G>A (p.Val875Ile) c.2587G>A (p.Val863Ile) | |
| 1 | g.236880768G>C | CA345382877 | MTR | c.2608G>C (p.Val870Leu) c.2455G>C (p.Val819Leu) c.*1650G>C (n.*1650G>C) c.*1352G>C (n.*1352G>C) c.2260G>C (p.Val754Leu) n.2922G>C c.2419G>C (p.Val807Leu) n.3052G>C c.2428G>C (p.Val810Leu) c.2170G>C (p.Val724Leu) n.2802G>C c.1270G>C (p.Val424Leu) c.1387G>C (p.Val463Leu) c.2605G>C (p.Val869Leu) c.1672G>C (p.Val558Leu) c.2776G>C (p.Val926Leu) c.2623G>C (p.Val875Leu) c.2587G>C (p.Val863Leu) | |
| 1 | g.236880768G>T | CA345382878 | MTR | c.2608G>T (p.Val870Phe) c.2455G>T (p.Val819Phe) c.*1650G>T (n.*1650G>T) c.*1352G>T (n.*1352G>T) c.2260G>T (p.Val754Phe) n.2922G>T c.2419G>T (p.Val807Phe) n.3052G>T c.2428G>T (p.Val810Phe) c.2170G>T (p.Val724Phe) n.2802G>T c.1270G>T (p.Val424Phe) c.1387G>T (p.Val463Phe) c.2605G>T (p.Val869Phe) c.1672G>T (p.Val558Phe) c.2776G>T (p.Val926Phe) c.2623G>T (p.Val875Phe) c.2587G>T (p.Val863Phe) | |
| 1 | g.236880769T>A | CA345382881 | MTR | c.2609T>A (p.Val870Asp) c.2456T>A (p.Val819Asp) c.*1651T>A (n.*1651T>A) c.*1353T>A (n.*1353T>A) c.2261T>A (p.Val754Asp) n.2923T>A c.2420T>A (p.Val807Asp) n.3053T>A c.2429T>A (p.Val810Asp) c.2171T>A (p.Val724Asp) n.2803T>A c.1271T>A (p.Val424Asp) c.1388T>A (p.Val463Asp) c.2606T>A (p.Val869Asp) c.1673T>A (p.Val558Asp) c.2777T>A (p.Val926Asp) c.2624T>A (p.Val875Asp) c.2588T>A (p.Val863Asp) | |
| 1 | g.236880769T>C | CA345382886 | MTR | c.2609T>C (p.Val870Ala) c.2456T>C (p.Val819Ala) c.*1651T>C (n.*1651T>C) c.*1353T>C (n.*1353T>C) c.2261T>C (p.Val754Ala) n.2923T>C c.2420T>C (p.Val807Ala) n.3053T>C c.2429T>C (p.Val810Ala) c.2171T>C (p.Val724Ala) n.2803T>C c.1271T>C (p.Val424Ala) c.1388T>C (p.Val463Ala) c.2606T>C (p.Val869Ala) c.1673T>C (p.Val558Ala) c.2777T>C (p.Val926Ala) c.2624T>C (p.Val875Ala) c.2588T>C (p.Val863Ala) | |
| 1 | g.236880769T>G | CA345382887 | MTR | c.2609T>G (p.Val870Gly) c.2456T>G (p.Val819Gly) c.*1651T>G (n.*1651T>G) c.*1353T>G (n.*1353T>G) c.2261T>G (p.Val754Gly) n.2923T>G c.2420T>G (p.Val807Gly) n.3053T>G c.2429T>G (p.Val810Gly) c.2171T>G (p.Val724Gly) n.2803T>G c.1271T>G (p.Val424Gly) c.1388T>G (p.Val463Gly) c.2606T>G (p.Val869Gly) c.1673T>G (p.Val558Gly) c.2777T>G (p.Val926Gly) c.2624T>G (p.Val875Gly) c.2588T>G (p.Val863Gly) | |
| 1 | g.236880770T>A | CA423815924 | MTR | c.2610T>A (p.Val870=) c.2457T>A (p.Val819=) c.*1652T>A (n.*1652T>A) c.*1354T>A (n.*1354T>A) c.2262T>A (p.Val754=) n.2924T>A c.2421T>A (p.Val807=) n.3054T>A c.2430T>A (p.Val810=) c.2172T>A (p.Val724=) n.2804T>A c.1272T>A (p.Val424=) c.1389T>A (p.Val463=) c.2607T>A (p.Val869=) c.1674T>A (p.Val558=) c.2778T>A (p.Val926=) c.2625T>A (p.Val875=) c.2589T>A (p.Val863=) | |
| 1 | g.236880770T>C | CA423815926 | MTR | c.2610T>C (p.Val870=) c.2457T>C (p.Val819=) c.*1652T>C (n.*1652T>C) c.*1354T>C (n.*1354T>C) c.2262T>C (p.Val754=) n.2924T>C c.2421T>C (p.Val807=) n.3054T>C c.2430T>C (p.Val810=) c.2172T>C (p.Val724=) n.2804T>C c.1272T>C (p.Val424=) c.1389T>C (p.Val463=) c.2607T>C (p.Val869=) c.1674T>C (p.Val558=) c.2778T>C (p.Val926=) c.2625T>C (p.Val875=) c.2589T>C (p.Val863=) | |
| 1 | g.236880770T>G | CA423815929 | MTR | c.2610T>G (p.Val870=) c.2457T>G (p.Val819=) c.*1652T>G (n.*1652T>G) c.*1354T>G (n.*1354T>G) c.2262T>G (p.Val754=) n.2924T>G c.2421T>G (p.Val807=) n.3054T>G c.2430T>G (p.Val810=) c.2172T>G (p.Val724=) n.2804T>G c.1272T>G (p.Val424=) c.1389T>G (p.Val463=) c.2607T>G (p.Val869=) c.1674T>G (p.Val558=) c.2778T>G (p.Val926=) c.2625T>G (p.Val875=) c.2589T>G (p.Val863=) | |
| 1 | g.236880771A>C | CA345382892 | MTR | c.2611A>C (p.Lys871Gln) c.2458A>C (p.Lys820Gln) c.*1653A>C (n.*1653A>C) c.*1355A>C (n.*1355A>C) c.2263A>C (p.Lys755Gln) n.2925A>C c.2422A>C (p.Lys808Gln) n.3055A>C c.2431A>C (p.Lys811Gln) c.2173A>C (p.Lys725Gln) n.2805A>C c.1273A>C (p.Lys425Gln) c.1390A>C (p.Lys464Gln) c.2608A>C (p.Lys870Gln) c.1675A>C (p.Lys559Gln) c.2779A>C (p.Lys927Gln) c.2626A>C (p.Lys876Gln) c.2590A>C (p.Lys864Gln) | COSMIC |
| 1 | g.236880771A>G | CA345382889 | MTR | c.2611A>G (p.Lys871Glu) c.2458A>G (p.Lys820Glu) c.*1653A>G (n.*1653A>G) c.*1355A>G (n.*1355A>G) c.2263A>G (p.Lys755Glu) n.2925A>G c.2422A>G (p.Lys808Glu) n.3055A>G c.2431A>G (p.Lys811Glu) c.2173A>G (p.Lys725Glu) n.2805A>G c.1273A>G (p.Lys425Glu) c.1390A>G (p.Lys464Glu) c.2608A>G (p.Lys870Glu) c.1675A>G (p.Lys559Glu) c.2779A>G (p.Lys927Glu) c.2626A>G (p.Lys876Glu) c.2590A>G (p.Lys864Glu) | |
| 1 | g.236880771A>T | CA345382890 | MTR | c.2611A>T (p.Lys871Ter) c.2458A>T (p.Lys820Ter) c.*1653A>T (n.*1653A>T) c.*1355A>T (n.*1355A>T) c.2263A>T (p.Lys755Ter) n.2925A>T c.2422A>T (p.Lys808Ter) n.3055A>T c.2431A>T (p.Lys811Ter) c.2173A>T (p.Lys725Ter) n.2805A>T c.1273A>T (p.Lys425Ter) c.1390A>T (p.Lys464Ter) c.2608A>T (p.Lys870Ter) c.1675A>T (p.Lys559Ter) c.2779A>T (p.Lys927Ter) c.2626A>T (p.Lys876Ter) c.2590A>T (p.Lys864Ter) | |
| 1 | g.236880772A>C | CA345382894 | MTR | c.2612A>C (p.Lys871Thr) c.2459A>C (p.Lys820Thr) c.*1654A>C (n.*1654A>C) c.*1356A>C (n.*1356A>C) c.2264A>C (p.Lys755Thr) n.2926A>C c.2423A>C (p.Lys808Thr) n.3056A>C c.2432A>C (p.Lys811Thr) c.2174A>C (p.Lys725Thr) n.2806A>C c.1274A>C (p.Lys425Thr) c.1391A>C (p.Lys464Thr) c.2609A>C (p.Lys870Thr) c.1676A>C (p.Lys559Thr) c.2780A>C (p.Lys927Thr) c.2627A>C (p.Lys876Thr) c.2591A>C (p.Lys864Thr) | |
| 1 | g.236880772A>G | CA345382897 | MTR | c.2612A>G (p.Lys871Arg) c.2459A>G (p.Lys820Arg) c.*1654A>G (n.*1654A>G) c.*1356A>G (n.*1356A>G) c.2264A>G (p.Lys755Arg) n.2926A>G c.2423A>G (p.Lys808Arg) n.3056A>G c.2432A>G (p.Lys811Arg) c.2174A>G (p.Lys725Arg) n.2806A>G c.1274A>G (p.Lys425Arg) c.1391A>G (p.Lys464Arg) c.2609A>G (p.Lys870Arg) c.1676A>G (p.Lys559Arg) c.2780A>G (p.Lys927Arg) c.2627A>G (p.Lys876Arg) c.2591A>G (p.Lys864Arg) | |
| 1 | g.236880772A>T | CA345382900 | MTR | c.2612A>T (p.Lys871Ile) c.2459A>T (p.Lys820Ile) c.*1654A>T (n.*1654A>T) c.*1356A>T (n.*1356A>T) c.2264A>T (p.Lys755Ile) n.2926A>T c.2423A>T (p.Lys808Ile) n.3056A>T c.2432A>T (p.Lys811Ile) c.2174A>T (p.Lys725Ile) n.2806A>T c.1274A>T (p.Lys425Ile) c.1391A>T (p.Lys464Ile) c.2609A>T (p.Lys870Ile) c.1676A>T (p.Lys559Ile) c.2780A>T (p.Lys927Ile) c.2627A>T (p.Lys876Ile) c.2591A>T (p.Lys864Ile) | |
| 1 | g.236880773A= | CA2487101831 | MTR | c.2613A= (p.Lys871=) c.2460A= (p.Lys820=) c.*1655A= (n.*1655A=) c.*1357A= (n.*1357A=) c.2265A= (p.Lys755=) n.2927A= c.2424A= (p.Lys808=) n.3057A= c.2433A= (p.Lys811=) c.2175A= (p.Lys725=) n.2807A= c.1275A= (p.Lys425=) c.1392A= (p.Lys464=) c.2610A= (p.Lys870=) c.1677A= (p.Lys559=) c.2781A= (p.Lys927=) c.2628A= (p.Lys876=) c.2592A= (p.Lys864=) | |
| 1 | g.236880773A>C | CA345382902 | MTR | c.2613A>C (p.Lys871Asn) c.2460A>C (p.Lys820Asn) c.*1655A>C (n.*1655A>C) c.*1357A>C (n.*1357A>C) c.2265A>C (p.Lys755Asn) n.2927A>C c.2424A>C (p.Lys808Asn) n.3057A>C c.2433A>C (p.Lys811Asn) c.2175A>C (p.Lys725Asn) n.2807A>C c.1275A>C (p.Lys425Asn) c.1392A>C (p.Lys464Asn) c.2610A>C (p.Lys870Asn) c.1677A>C (p.Lys559Asn) c.2781A>C (p.Lys927Asn) c.2628A>C (p.Lys876Asn) c.2592A>C (p.Lys864Asn) | |
| 1 | g.236880773A>G | CA1474455 | MTR | c.2613A>G (p.Lys871=) c.2460A>G (p.Lys820=) c.*1655A>G (n.*1655A>G) c.*1357A>G (n.*1357A>G) c.2265A>G (p.Lys755=) n.2927A>G c.2424A>G (p.Lys808=) n.3057A>G c.2433A>G (p.Lys811=) c.2175A>G (p.Lys725=) n.2807A>G c.1275A>G (p.Lys425=) c.1392A>G (p.Lys464=) c.2610A>G (p.Lys870=) c.1677A>G (p.Lys559=) c.2781A>G (p.Lys927=) c.2628A>G (p.Lys876=) c.2592A>G (p.Lys864=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880773A>T | CA345382908 | MTR | c.2613A>T (p.Lys871Asn) c.2460A>T (p.Lys820Asn) c.*1655A>T (n.*1655A>T) c.*1357A>T (n.*1357A>T) c.2265A>T (p.Lys755Asn) n.2927A>T c.2424A>T (p.Lys808Asn) n.3057A>T c.2433A>T (p.Lys811Asn) c.2175A>T (p.Lys725Asn) n.2807A>T c.1275A>T (p.Lys425Asn) c.1392A>T (p.Lys464Asn) c.2610A>T (p.Lys870Asn) c.1677A>T (p.Lys559Asn) c.2781A>T (p.Lys927Asn) c.2628A>T (p.Lys876Asn) c.2592A>T (p.Lys864Asn) | |
| 1 | g.236880774A= | CA2487101832 | MTR | c.2614A= (p.Ile872=) c.2461A= (p.Ile821=) c.*1656A= (n.*1656A=) c.*1358A= (n.*1358A=) c.2266A= (p.Ile756=) n.2928A= c.2425A= (p.Ile809=) n.3058A= c.2434A= (p.Ile812=) c.2176A= (p.Ile726=) n.2808A= c.1276A= (p.Ile426=) c.1393A= (p.Ile465=) c.2611A= (p.Ile871=) c.1678A= (p.Ile560=) c.2782A= (p.Ile928=) c.2629A= (p.Ile877=) c.2593A= (p.Ile865=) | |
| 1 | g.236880774A>C | CA345382915 | MTR | c.2614A>C (p.Ile872Leu) c.2461A>C (p.Ile821Leu) c.*1656A>C (n.*1656A>C) c.*1358A>C (n.*1358A>C) c.2266A>C (p.Ile756Leu) n.2928A>C c.2425A>C (p.Ile809Leu) n.3058A>C c.2434A>C (p.Ile812Leu) c.2176A>C (p.Ile726Leu) n.2808A>C c.1276A>C (p.Ile426Leu) c.1393A>C (p.Ile465Leu) c.2611A>C (p.Ile871Leu) c.1678A>C (p.Ile560Leu) c.2782A>C (p.Ile928Leu) c.2629A>C (p.Ile877Leu) c.2593A>C (p.Ile865Leu) | |
| 1 | g.236880774A>G | CA345382922 | MTR | c.2614A>G (p.Ile872Val) c.2461A>G (p.Ile821Val) c.*1656A>G (n.*1656A>G) c.*1358A>G (n.*1358A>G) c.2266A>G (p.Ile756Val) n.2928A>G c.2425A>G (p.Ile809Val) n.3058A>G c.2434A>G (p.Ile812Val) c.2176A>G (p.Ile726Val) n.2808A>G c.1276A>G (p.Ile426Val) c.1393A>G (p.Ile465Val) c.2611A>G (p.Ile871Val) c.1678A>G (p.Ile560Val) c.2782A>G (p.Ile928Val) c.2629A>G (p.Ile877Val) c.2593A>G (p.Ile865Val) | dbSNP COSMIC |
| 1 | g.236880774A>T | CA345382924 | MTR | c.2614A>T (p.Ile872Leu) c.2461A>T (p.Ile821Leu) c.*1656A>T (n.*1656A>T) c.*1358A>T (n.*1358A>T) c.2266A>T (p.Ile756Leu) n.2928A>T c.2425A>T (p.Ile809Leu) n.3058A>T c.2434A>T (p.Ile812Leu) c.2176A>T (p.Ile726Leu) n.2808A>T c.1276A>T (p.Ile426Leu) c.1393A>T (p.Ile465Leu) c.2611A>T (p.Ile871Leu) c.1678A>T (p.Ile560Leu) c.2782A>T (p.Ile928Leu) c.2629A>T (p.Ile877Leu) c.2593A>T (p.Ile865Leu) | |
| 1 | g.236880775T>A | CA345382929 | MTR | c.2615T>A (p.Ile872Lys) c.2462T>A (p.Ile821Lys) c.*1657T>A (n.*1657T>A) c.*1359T>A (n.*1359T>A) c.2267T>A (p.Ile756Lys) n.2929T>A c.2426T>A (p.Ile809Lys) n.3059T>A c.2435T>A (p.Ile812Lys) c.2177T>A (p.Ile726Lys) n.2809T>A c.1277T>A (p.Ile426Lys) c.1394T>A (p.Ile465Lys) c.2612T>A (p.Ile871Lys) c.1679T>A (p.Ile560Lys) c.2783T>A (p.Ile928Lys) c.2630T>A (p.Ile877Lys) c.2594T>A (p.Ile865Lys) | |
| 1 | g.236880775T>C | CA345382934 | MTR | c.2615T>C (p.Ile872Thr) c.2462T>C (p.Ile821Thr) c.*1657T>C (n.*1657T>C) c.*1359T>C (n.*1359T>C) c.2267T>C (p.Ile756Thr) n.2929T>C c.2426T>C (p.Ile809Thr) n.3059T>C c.2435T>C (p.Ile812Thr) c.2177T>C (p.Ile726Thr) n.2809T>C c.1277T>C (p.Ile426Thr) c.1394T>C (p.Ile465Thr) c.2612T>C (p.Ile871Thr) c.1679T>C (p.Ile560Thr) c.2783T>C (p.Ile928Thr) c.2630T>C (p.Ile877Thr) c.2594T>C (p.Ile865Thr) | |
| 1 | g.236880775T>G | CA345382937 | MTR | c.2615T>G (p.Ile872Arg) c.2462T>G (p.Ile821Arg) c.*1657T>G (n.*1657T>G) c.*1359T>G (n.*1359T>G) c.2267T>G (p.Ile756Arg) n.2929T>G c.2426T>G (p.Ile809Arg) n.3059T>G c.2435T>G (p.Ile812Arg) c.2177T>G (p.Ile726Arg) n.2809T>G c.1277T>G (p.Ile426Arg) c.1394T>G (p.Ile465Arg) c.2612T>G (p.Ile871Arg) c.1679T>G (p.Ile560Arg) c.2783T>G (p.Ile928Arg) c.2630T>G (p.Ile877Arg) c.2594T>G (p.Ile865Arg) | |
| 1 | g.236880776A>C | CA423815960 | MTR | c.2616A>C (p.Ile872=) c.2463A>C (p.Ile821=) c.*1658A>C (n.*1658A>C) c.*1360A>C (n.*1360A>C) c.2268A>C (p.Ile756=) n.2930A>C c.2427A>C (p.Ile809=) n.3060A>C c.2436A>C (p.Ile812=) c.2178A>C (p.Ile726=) n.2810A>C c.1278A>C (p.Ile426=) c.1395A>C (p.Ile465=) c.2613A>C (p.Ile871=) c.1680A>C (p.Ile560=) c.2784A>C (p.Ile928=) c.2631A>C (p.Ile877=) c.2595A>C (p.Ile865=) | |
| 1 | g.236880776A>G | CA345382939 | MTR | c.2616A>G (p.Ile872Met) c.2463A>G (p.Ile821Met) c.*1658A>G (n.*1658A>G) c.*1360A>G (n.*1360A>G) c.2268A>G (p.Ile756Met) n.2930A>G c.2427A>G (p.Ile809Met) n.3060A>G c.2436A>G (p.Ile812Met) c.2178A>G (p.Ile726Met) n.2810A>G c.1278A>G (p.Ile426Met) c.1395A>G (p.Ile465Met) c.2613A>G (p.Ile871Met) c.1680A>G (p.Ile560Met) c.2784A>G (p.Ile928Met) c.2631A>G (p.Ile877Met) c.2595A>G (p.Ile865Met) | |
| 1 | g.236880776A>T | CA423815964 | MTR | c.2616A>T (p.Ile872=) c.2463A>T (p.Ile821=) c.*1658A>T (n.*1658A>T) c.*1360A>T (n.*1360A>T) c.2268A>T (p.Ile756=) n.2930A>T c.2427A>T (p.Ile809=) n.3060A>T c.2436A>T (p.Ile812=) c.2178A>T (p.Ile726=) n.2810A>T c.1278A>T (p.Ile426=) c.1395A>T (p.Ile465=) c.2613A>T (p.Ile871=) c.1680A>T (p.Ile560=) c.2784A>T (p.Ile928=) c.2631A>T (p.Ile877=) c.2595A>T (p.Ile865=) | |
| 1 | g.236880777G>A | CA345382945 | MTR | c.2617G>A (p.Ala873Thr) c.2464G>A (p.Ala822Thr) c.*1659G>A (n.*1659G>A) c.*1361G>A (n.*1361G>A) c.2269G>A (p.Ala757Thr) n.2931G>A c.2428G>A (p.Ala810Thr) n.3061G>A c.2437G>A (p.Ala813Thr) c.2179G>A (p.Ala727Thr) n.2811G>A c.1279G>A (p.Ala427Thr) c.1396G>A (p.Ala466Thr) c.2614G>A (p.Ala872Thr) c.1681G>A (p.Ala561Thr) c.2785G>A (p.Ala929Thr) c.2632G>A (p.Ala878Thr) c.2596G>A (p.Ala866Thr) | |
| 1 | g.236880777G>C | CA345382942 | MTR | c.2617G>C (p.Ala873Pro) c.2464G>C (p.Ala822Pro) c.*1659G>C (n.*1659G>C) c.*1361G>C (n.*1361G>C) c.2269G>C (p.Ala757Pro) n.2931G>C c.2428G>C (p.Ala810Pro) n.3061G>C c.2437G>C (p.Ala813Pro) c.2179G>C (p.Ala727Pro) n.2811G>C c.1279G>C (p.Ala427Pro) c.1396G>C (p.Ala466Pro) c.2614G>C (p.Ala872Pro) c.1681G>C (p.Ala561Pro) c.2785G>C (p.Ala929Pro) c.2632G>C (p.Ala878Pro) c.2596G>C (p.Ala866Pro) | |
| 1 | g.236880777G>T | CA345382944 | MTR | c.2617G>T (p.Ala873Ser) c.2464G>T (p.Ala822Ser) c.*1659G>T (n.*1659G>T) c.*1361G>T (n.*1361G>T) c.2269G>T (p.Ala757Ser) n.2931G>T c.2428G>T (p.Ala810Ser) n.3061G>T c.2437G>T (p.Ala813Ser) c.2179G>T (p.Ala727Ser) n.2811G>T c.1279G>T (p.Ala427Ser) c.1396G>T (p.Ala466Ser) c.2614G>T (p.Ala872Ser) c.1681G>T (p.Ala561Ser) c.2785G>T (p.Ala929Ser) c.2632G>T (p.Ala878Ser) c.2596G>T (p.Ala866Ser) | |
| 1 | g.236880778C>A | CA345382946 | MTR | c.2618C>A (p.Ala873Asp) c.2465C>A (p.Ala822Asp) c.*1660C>A (n.*1660C>A) c.*1362C>A (n.*1362C>A) c.2270C>A (p.Ala757Asp) n.2932C>A c.2429C>A (p.Ala810Asp) n.3062C>A c.2438C>A (p.Ala813Asp) c.2180C>A (p.Ala727Asp) n.2812C>A c.1280C>A (p.Ala427Asp) c.1397C>A (p.Ala466Asp) c.2615C>A (p.Ala872Asp) c.1682C>A (p.Ala561Asp) c.2786C>A (p.Ala929Asp) c.2633C>A (p.Ala878Asp) c.2597C>A (p.Ala866Asp) | |
| 1 | g.236880778C>G | CA345382947 | MTR | c.2618C>G (p.Ala873Gly) c.2465C>G (p.Ala822Gly) c.*1660C>G (n.*1660C>G) c.*1362C>G (n.*1362C>G) c.2270C>G (p.Ala757Gly) n.2932C>G c.2429C>G (p.Ala810Gly) n.3062C>G c.2438C>G (p.Ala813Gly) c.2180C>G (p.Ala727Gly) n.2812C>G c.1280C>G (p.Ala427Gly) c.1397C>G (p.Ala466Gly) c.2615C>G (p.Ala872Gly) c.1682C>G (p.Ala561Gly) c.2786C>G (p.Ala929Gly) c.2633C>G (p.Ala878Gly) c.2597C>G (p.Ala866Gly) | |
| 1 | g.236880778C>T | CA345382948 | MTR | c.2618C>T (p.Ala873Val) c.2465C>T (p.Ala822Val) c.*1660C>T (n.*1660C>T) c.*1362C>T (n.*1362C>T) c.2270C>T (p.Ala757Val) n.2932C>T c.2429C>T (p.Ala810Val) n.3062C>T c.2438C>T (p.Ala813Val) c.2180C>T (p.Ala727Val) n.2812C>T c.1280C>T (p.Ala427Val) c.1397C>T (p.Ala466Val) c.2615C>T (p.Ala872Val) c.1682C>T (p.Ala561Val) c.2786C>T (p.Ala929Val) c.2633C>T (p.Ala878Val) c.2597C>T (p.Ala866Val) | |
| 1 | g.236880779T>A | CA423815976 | MTR | c.2619T>A (p.Ala873=) c.2466T>A (p.Ala822=) c.*1661T>A (n.*1661T>A) c.*1363T>A (n.*1363T>A) c.2271T>A (p.Ala757=) n.2933T>A c.2430T>A (p.Ala810=) n.3063T>A c.2439T>A (p.Ala813=) c.2181T>A (p.Ala727=) n.2813T>A c.1281T>A (p.Ala427=) c.1398T>A (p.Ala466=) c.2616T>A (p.Ala872=) c.1683T>A (p.Ala561=) c.2787T>A (p.Ala929=) c.2634T>A (p.Ala878=) c.2598T>A (p.Ala866=) | |
| 1 | g.236880779T>C | CA423815978 | MTR | c.2619T>C (p.Ala873=) c.2466T>C (p.Ala822=) c.*1661T>C (n.*1661T>C) c.*1363T>C (n.*1363T>C) c.2271T>C (p.Ala757=) n.2933T>C c.2430T>C (p.Ala810=) n.3063T>C c.2439T>C (p.Ala813=) c.2181T>C (p.Ala727=) n.2813T>C c.1281T>C (p.Ala427=) c.1398T>C (p.Ala466=) c.2616T>C (p.Ala872=) c.1683T>C (p.Ala561=) c.2787T>C (p.Ala929=) c.2634T>C (p.Ala878=) c.2598T>C (p.Ala866=) | |
| 1 | g.236880779T>G | CA423815981 | MTR | c.2619T>G (p.Ala873=) c.2466T>G (p.Ala822=) c.*1661T>G (n.*1661T>G) c.*1363T>G (n.*1363T>G) c.2271T>G (p.Ala757=) n.2933T>G c.2430T>G (p.Ala810=) n.3063T>G c.2439T>G (p.Ala813=) c.2181T>G (p.Ala727=) n.2813T>G c.1281T>G (p.Ala427=) c.1398T>G (p.Ala466=) c.2616T>G (p.Ala872=) c.1683T>G (p.Ala561=) c.2787T>G (p.Ala929=) c.2634T>G (p.Ala878=) c.2598T>G (p.Ala866=) | |
| 1 | g.236880780C>A | CA345382957 | MTR | c.2620C>A (p.Pro874Thr) c.2467C>A (p.Pro823Thr) c.*1662C>A (n.*1662C>A) c.*1364C>A (n.*1364C>A) c.2272C>A (p.Pro758Thr) n.2934C>A c.2431C>A (p.Pro811Thr) n.3064C>A c.2440C>A (p.Pro814Thr) c.2182C>A (p.Pro728Thr) n.2814C>A c.1282C>A (p.Pro428Thr) c.1399C>A (p.Pro467Thr) c.2617C>A (p.Pro873Thr) c.1684C>A (p.Pro562Thr) c.2788C>A (p.Pro930Thr) c.2635C>A (p.Pro879Thr) c.2599C>A (p.Pro867Thr) | |
| 1 | g.236880780C>G | CA345382952 | MTR | c.2620C>G (p.Pro874Ala) c.2467C>G (p.Pro823Ala) c.*1662C>G (n.*1662C>G) c.*1364C>G (n.*1364C>G) c.2272C>G (p.Pro758Ala) n.2934C>G c.2431C>G (p.Pro811Ala) n.3064C>G c.2440C>G (p.Pro814Ala) c.2182C>G (p.Pro728Ala) n.2814C>G c.1282C>G (p.Pro428Ala) c.1399C>G (p.Pro467Ala) c.2617C>G (p.Pro873Ala) c.1684C>G (p.Pro562Ala) c.2788C>G (p.Pro930Ala) c.2635C>G (p.Pro879Ala) c.2599C>G (p.Pro867Ala) | gnomAD v4 |
| 1 | g.236880780C>T | CA345382949 | MTR | c.2620C>T (p.Pro874Ser) c.2467C>T (p.Pro823Ser) c.*1662C>T (n.*1662C>T) c.*1364C>T (n.*1364C>T) c.2272C>T (p.Pro758Ser) n.2934C>T c.2431C>T (p.Pro811Ser) n.3064C>T c.2440C>T (p.Pro814Ser) c.2182C>T (p.Pro728Ser) n.2814C>T c.1282C>T (p.Pro428Ser) c.1399C>T (p.Pro467Ser) c.2617C>T (p.Pro873Ser) c.1684C>T (p.Pro562Ser) c.2788C>T (p.Pro930Ser) c.2635C>T (p.Pro879Ser) c.2599C>T (p.Pro867Ser) | |
| 1 | g.236880781C>A | CA345382959 | MTR | c.2621C>A (p.Pro874Gln) c.2468C>A (p.Pro823Gln) c.*1663C>A (n.*1663C>A) c.*1365C>A (n.*1365C>A) c.2273C>A (p.Pro758Gln) n.2935C>A c.2432C>A (p.Pro811Gln) n.3065C>A c.2441C>A (p.Pro814Gln) c.2183C>A (p.Pro728Gln) n.2815C>A c.1283C>A (p.Pro428Gln) c.1400C>A (p.Pro467Gln) c.2618C>A (p.Pro873Gln) c.1685C>A (p.Pro562Gln) c.2789C>A (p.Pro930Gln) c.2636C>A (p.Pro879Gln) c.2600C>A (p.Pro867Gln) | |
| 1 | g.236880781C= | CA2487101833 | MTR | c.2621C= (p.Pro874=) c.2468C= (p.Pro823=) c.*1663C= (n.*1663C=) c.*1365C= (n.*1365C=) c.2273C= (p.Pro758=) n.2935C= c.2432C= (p.Pro811=) n.3065C= c.2441C= (p.Pro814=) c.2183C= (p.Pro728=) n.2815C= c.1283C= (p.Pro428=) c.1400C= (p.Pro467=) c.2618C= (p.Pro873=) c.1685C= (p.Pro562=) c.2789C= (p.Pro930=) c.2636C= (p.Pro879=) c.2600C= (p.Pro867=) | |
| 1 | g.236880781C>G | CA345382960 | MTR | c.2621C>G (p.Pro874Arg) c.2468C>G (p.Pro823Arg) c.*1663C>G (n.*1663C>G) c.*1365C>G (n.*1365C>G) c.2273C>G (p.Pro758Arg) n.2935C>G c.2432C>G (p.Pro811Arg) n.3065C>G c.2441C>G (p.Pro814Arg) c.2183C>G (p.Pro728Arg) n.2815C>G c.1283C>G (p.Pro428Arg) c.1400C>G (p.Pro467Arg) c.2618C>G (p.Pro873Arg) c.1685C>G (p.Pro562Arg) c.2789C>G (p.Pro930Arg) c.2636C>G (p.Pro879Arg) c.2600C>G (p.Pro867Arg) | |
| 1 | g.236880781C>T | CA1474456 | MTR | c.2621C>T (p.Pro874Leu) c.2468C>T (p.Pro823Leu) c.*1663C>T (n.*1663C>T) c.*1365C>T (n.*1365C>T) c.2273C>T (p.Pro758Leu) n.2935C>T c.2432C>T (p.Pro811Leu) n.3065C>T c.2441C>T (p.Pro814Leu) c.2183C>T (p.Pro728Leu) n.2815C>T c.1283C>T (p.Pro428Leu) c.1400C>T (p.Pro467Leu) c.2618C>T (p.Pro873Leu) c.1685C>T (p.Pro562Leu) c.2789C>T (p.Pro930Leu) c.2636C>T (p.Pro879Leu) c.2600C>T (p.Pro867Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.236880782G>A | CA1474457 | MTR | c.2622G>A (p.Pro874=) c.2469G>A (p.Pro823=) c.*1664G>A (n.*1664G>A) c.*1366G>A (n.*1366G>A) c.2274G>A (p.Pro758=) n.2936G>A c.2433G>A (p.Pro811=) n.3066G>A c.2442G>A (p.Pro814=) c.2184G>A (p.Pro728=) n.2816G>A c.1284G>A (p.Pro428=) c.1401G>A (p.Pro467=) c.2619G>A (p.Pro873=) c.1686G>A (p.Pro562=) c.2790G>A (p.Pro930=) c.2637G>A (p.Pro879=) c.2601G>A (p.Pro867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.236880782G>C | CA423815995 | MTR | c.2622G>C (p.Pro874=) c.2469G>C (p.Pro823=) c.*1664G>C (n.*1664G>C) c.*1366G>C (n.*1366G>C) c.2274G>C (p.Pro758=) n.2936G>C c.2433G>C (p.Pro811=) n.3066G>C c.2442G>C (p.Pro814=) c.2184G>C (p.Pro728=) n.2816G>C c.1284G>C (p.Pro428=) c.1401G>C (p.Pro467=) c.2619G>C (p.Pro873=) c.1686G>C (p.Pro562=) c.2790G>C (p.Pro930=) c.2637G>C (p.Pro879=) c.2601G>C (p.Pro867=) | |
| 1 | g.236880782G= | CA1141835273 | MTR | c.2622G= (p.Pro874=) c.2469G= (p.Pro823=) c.*1664G= (n.*1664G=) c.*1366G= (n.*1366G=) c.2274G= (p.Pro758=) n.2936G= c.2433G= (p.Pro811=) n.3066G= c.2442G= (p.Pro814=) c.2184G= (p.Pro728=) n.2816G= c.1284G= (p.Pro428=) c.1401G= (p.Pro467=) c.2619G= (p.Pro873=) c.1686G= (p.Pro562=) c.2790G= (p.Pro930=) c.2637G= (p.Pro879=) c.2601G= (p.Pro867=) | |
| 1 | g.236880782G>T | CA423815997 | MTR | c.2622G>T (p.Pro874=) c.2469G>T (p.Pro823=) c.*1664G>T (n.*1664G>T) c.*1366G>T (n.*1366G>T) c.2274G>T (p.Pro758=) n.2936G>T c.2433G>T (p.Pro811=) n.3066G>T c.2442G>T (p.Pro814=) c.2184G>T (p.Pro728=) n.2816G>T c.1284G>T (p.Pro428=) c.1401G>T (p.Pro467=) c.2619G>T (p.Pro873=) c.1686G>T (p.Pro562=) c.2790G>T (p.Pro930=) c.2637G>T (p.Pro879=) c.2601G>T (p.Pro867=) | |
| 1 | g.236880783A>C | CA423816004 | MTR | c.2623A>C (p.Arg875=) c.2470A>C (p.Arg824=) c.*1665A>C (n.*1665A>C) c.*1367A>C (n.*1367A>C) c.2275A>C (p.Arg759=) n.2937A>C c.2434A>C (p.Arg812=) n.3067A>C c.2443A>C (p.Arg815=) c.2185A>C (p.Arg729=) n.2817A>C c.1285A>C (p.Arg429=) c.1402A>C (p.Arg468=) c.2620A>C (p.Arg874=) c.1687A>C (p.Arg563=) c.2791A>C (p.Arg931=) c.2638A>C (p.Arg880=) c.2602A>C (p.Arg868=) | |
| 1 | g.236880783A>G | CA345382965 | MTR | c.2623A>G (p.Arg875Gly) c.2470A>G (p.Arg824Gly) c.*1665A>G (n.*1665A>G) c.*1367A>G (n.*1367A>G) c.2275A>G (p.Arg759Gly) n.2937A>G c.2434A>G (p.Arg812Gly) n.3067A>G c.2443A>G (p.Arg815Gly) c.2185A>G (p.Arg729Gly) n.2817A>G c.1285A>G (p.Arg429Gly) c.1402A>G (p.Arg468Gly) c.2620A>G (p.Arg874Gly) c.1687A>G (p.Arg563Gly) c.2791A>G (p.Arg931Gly) c.2638A>G (p.Arg880Gly) c.2602A>G (p.Arg868Gly) | |
| 1 | g.236880783A>T | CA345382968 | MTR | c.2623A>T (p.Arg875Ter) c.2470A>T (p.Arg824Ter) c.*1665A>T (n.*1665A>T) c.*1367A>T (n.*1367A>T) c.2275A>T (p.Arg759Ter) n.2937A>T c.2434A>T (p.Arg812Ter) n.3067A>T c.2443A>T (p.Arg815Ter) c.2185A>T (p.Arg729Ter) n.2817A>T c.1285A>T (p.Arg429Ter) c.1402A>T (p.Arg468Ter) c.2620A>T (p.Arg874Ter) c.1687A>T (p.Arg563Ter) c.2791A>T (p.Arg931Ter) c.2638A>T (p.Arg880Ter) c.2602A>T (p.Arg868Ter) | |
| 1 | g.236880784G>A | CA345382978 | MTR | c.2624G>A (p.Arg875Lys) c.2471G>A (p.Arg824Lys) c.*1666G>A (n.*1666G>A) c.*1368G>A (n.*1368G>A) c.2276G>A (p.Arg759Lys) n.2938G>A c.2435G>A (p.Arg812Lys) n.3068G>A c.2444G>A (p.Arg815Lys) c.2186G>A (p.Arg729Lys) n.2818G>A c.1286G>A (p.Arg429Lys) c.1403G>A (p.Arg468Lys) c.2621G>A (p.Arg874Lys) c.1688G>A (p.Arg563Lys) c.2792G>A (p.Arg931Lys) c.2639G>A (p.Arg880Lys) c.2603G>A (p.Arg868Lys) | |
| 1 | g.236880784G>C | CA345382970 | MTR | c.2624G>C (p.Arg875Thr) c.2471G>C (p.Arg824Thr) c.*1666G>C (n.*1666G>C) c.*1368G>C (n.*1368G>C) c.2276G>C (p.Arg759Thr) n.2938G>C c.2435G>C (p.Arg812Thr) n.3068G>C c.2444G>C (p.Arg815Thr) c.2186G>C (p.Arg729Thr) n.2818G>C c.1286G>C (p.Arg429Thr) c.1403G>C (p.Arg468Thr) c.2621G>C (p.Arg874Thr) c.1688G>C (p.Arg563Thr) c.2792G>C (p.Arg931Thr) c.2639G>C (p.Arg880Thr) c.2603G>C (p.Arg868Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880784G= | CA2487101834 | MTR | c.2624G= (p.Arg875=) c.2471G= (p.Arg824=) c.*1666G= (n.*1666G=) c.*1368G= (n.*1368G=) c.2276G= (p.Arg759=) n.2938G= c.2435G= (p.Arg812=) n.3068G= c.2444G= (p.Arg815=) c.2186G= (p.Arg729=) n.2818G= c.1286G= (p.Arg429=) c.1403G= (p.Arg468=) c.2621G= (p.Arg874=) c.1688G= (p.Arg563=) c.2792G= (p.Arg931=) c.2639G= (p.Arg880=) c.2603G= (p.Arg868=) | |
| 1 | g.236880784G>T | CA345382972 | MTR | c.2624G>T (p.Arg875Ile) c.2471G>T (p.Arg824Ile) c.*1666G>T (n.*1666G>T) c.*1368G>T (n.*1368G>T) c.2276G>T (p.Arg759Ile) n.2938G>T c.2435G>T (p.Arg812Ile) n.3068G>T c.2444G>T (p.Arg815Ile) c.2186G>T (p.Arg729Ile) n.2818G>T c.1286G>T (p.Arg429Ile) c.1403G>T (p.Arg468Ile) c.2621G>T (p.Arg874Ile) c.1688G>T (p.Arg563Ile) c.2792G>T (p.Arg931Ile) c.2639G>T (p.Arg880Ile) c.2603G>T (p.Arg868Ile) | COSMIC |
| 1 | g.236880785A= | CA2487101835 | MTR | c.2625A= (p.Arg875=) c.2472A= (p.Arg824=) c.*1667A= (n.*1667A=) c.*1369A= (n.*1369A=) c.2277A= (p.Arg759=) n.2939A= c.2436A= (p.Arg812=) n.3069A= c.2445A= (p.Arg815=) c.2187A= (p.Arg729=) n.2819A= c.1287A= (p.Arg429=) c.1404A= (p.Arg468=) c.2622A= (p.Arg874=) c.1689A= (p.Arg563=) c.2793A= (p.Arg931=) c.2640A= (p.Arg880=) c.2604A= (p.Arg868=) | |
| 1 | g.236880785A>C | CA345382983 | MTR | c.2625A>C (p.Arg875Ser) c.2472A>C (p.Arg824Ser) c.*1667A>C (n.*1667A>C) c.*1369A>C (n.*1369A>C) c.2277A>C (p.Arg759Ser) n.2939A>C c.2436A>C (p.Arg812Ser) n.3069A>C c.2445A>C (p.Arg815Ser) c.2187A>C (p.Arg729Ser) n.2819A>C c.1287A>C (p.Arg429Ser) c.1404A>C (p.Arg468Ser) c.2622A>C (p.Arg874Ser) c.1689A>C (p.Arg563Ser) c.2793A>C (p.Arg931Ser) c.2640A>C (p.Arg880Ser) c.2604A>C (p.Arg868Ser) | |
| 1 | g.236880785A>G | CA423816012 | MTR | c.2625A>G (p.Arg875=) c.2472A>G (p.Arg824=) c.*1667A>G (n.*1667A>G) c.*1369A>G (n.*1369A>G) c.2277A>G (p.Arg759=) n.2939A>G c.2436A>G (p.Arg812=) n.3069A>G c.2445A>G (p.Arg815=) c.2187A>G (p.Arg729=) n.2819A>G c.1287A>G (p.Arg429=) c.1404A>G (p.Arg468=) c.2622A>G (p.Arg874=) c.1689A>G (p.Arg563=) c.2793A>G (p.Arg931=) c.2640A>G (p.Arg880=) c.2604A>G (p.Arg868=) | |
| 1 | g.236880785A>T | CA39763196 | MTR | c.2625A>T (p.Arg875Ser) c.2472A>T (p.Arg824Ser) c.*1667A>T (n.*1667A>T) c.*1369A>T (n.*1369A>T) c.2277A>T (p.Arg759Ser) n.2939A>T c.2436A>T (p.Arg812Ser) n.3069A>T c.2445A>T (p.Arg815Ser) c.2187A>T (p.Arg729Ser) n.2819A>T c.1287A>T (p.Arg429Ser) c.1404A>T (p.Arg468Ser) c.2622A>T (p.Arg874Ser) c.1689A>T (p.Arg563Ser) c.2793A>T (p.Arg931Ser) c.2640A>T (p.Arg880Ser) c.2604A>T (p.Arg868Ser) | dbSNP |
| 1 | g.236880786T>A | CA345382987 | MTR | c.2626T>A (p.Tyr876Asn) c.2473T>A (p.Tyr825Asn) c.*1668T>A (n.*1668T>A) c.*1370T>A (n.*1370T>A) c.2278T>A (p.Tyr760Asn) n.2940T>A c.2437T>A (p.Tyr813Asn) n.3070T>A c.2446T>A (p.Tyr816Asn) c.2188T>A (p.Tyr730Asn) n.2820T>A c.1288T>A (p.Tyr430Asn) c.1405T>A (p.Tyr469Asn) c.2623T>A (p.Tyr875Asn) c.1690T>A (p.Tyr564Asn) c.2794T>A (p.Tyr932Asn) c.2641T>A (p.Tyr881Asn) c.2605T>A (p.Tyr869Asn) | COSMIC |
| 1 | g.236880786T>C | CA345382989 | MTR | c.2626T>C (p.Tyr876His) c.2473T>C (p.Tyr825His) c.*1668T>C (n.*1668T>C) c.*1370T>C (n.*1370T>C) c.2278T>C (p.Tyr760His) n.2940T>C c.2437T>C (p.Tyr813His) n.3070T>C c.2446T>C (p.Tyr816His) c.2188T>C (p.Tyr730His) n.2820T>C c.1288T>C (p.Tyr430His) c.1405T>C (p.Tyr469His) c.2623T>C (p.Tyr875His) c.1690T>C (p.Tyr564His) c.2794T>C (p.Tyr932His) c.2641T>C (p.Tyr881His) c.2605T>C (p.Tyr869His) | |
| 1 | g.236880786T>G | CA345382991 | MTR | c.2626T>G (p.Tyr876Asp) c.2473T>G (p.Tyr825Asp) c.*1668T>G (n.*1668T>G) c.*1370T>G (n.*1370T>G) c.2278T>G (p.Tyr760Asp) n.2940T>G c.2437T>G (p.Tyr813Asp) n.3070T>G c.2446T>G (p.Tyr816Asp) c.2188T>G (p.Tyr730Asp) n.2820T>G c.1288T>G (p.Tyr430Asp) c.1405T>G (p.Tyr469Asp) c.2623T>G (p.Tyr875Asp) c.1690T>G (p.Tyr564Asp) c.2794T>G (p.Tyr932Asp) c.2641T>G (p.Tyr881Asp) c.2605T>G (p.Tyr869Asp) | |
| 1 | g.236880787A= | CA2487101836 | MTR | c.2627A= (p.Tyr876=) c.2474A= (p.Tyr825=) c.*1669A= (n.*1669A=) c.*1371A= (n.*1371A=) c.2279A= (p.Tyr760=) n.2941A= c.2438A= (p.Tyr813=) n.3071A= c.2447A= (p.Tyr816=) c.2189A= (p.Tyr730=) n.2821A= c.1289A= (p.Tyr430=) c.1406A= (p.Tyr469=) c.2624A= (p.Tyr875=) c.1691A= (p.Tyr564=) c.2795A= (p.Tyr932=) c.2642A= (p.Tyr881=) c.2606A= (p.Tyr869=) | |
| 1 | g.236880787A>C | CA345382993 | MTR | c.2627A>C (p.Tyr876Ser) c.2474A>C (p.Tyr825Ser) c.*1669A>C (n.*1669A>C) c.*1371A>C (n.*1371A>C) c.2279A>C (p.Tyr760Ser) n.2941A>C c.2438A>C (p.Tyr813Ser) n.3071A>C c.2447A>C (p.Tyr816Ser) c.2189A>C (p.Tyr730Ser) n.2821A>C c.1289A>C (p.Tyr430Ser) c.1406A>C (p.Tyr469Ser) c.2624A>C (p.Tyr875Ser) c.1691A>C (p.Tyr564Ser) c.2795A>C (p.Tyr932Ser) c.2642A>C (p.Tyr881Ser) c.2606A>C (p.Tyr869Ser) | |
| 1 | g.236880787A>G | CA345382995 | MTR | c.2627A>G (p.Tyr876Cys) c.2474A>G (p.Tyr825Cys) c.*1669A>G (n.*1669A>G) c.*1371A>G (n.*1371A>G) c.2279A>G (p.Tyr760Cys) n.2941A>G c.2438A>G (p.Tyr813Cys) n.3071A>G c.2447A>G (p.Tyr816Cys) c.2189A>G (p.Tyr730Cys) n.2821A>G c.1289A>G (p.Tyr430Cys) c.1406A>G (p.Tyr469Cys) c.2624A>G (p.Tyr875Cys) c.1691A>G (p.Tyr564Cys) c.2795A>G (p.Tyr932Cys) c.2642A>G (p.Tyr881Cys) c.2606A>G (p.Tyr869Cys) | dbSNP gnomAD v4 |
| 1 | g.236880787A>T | CA345382998 | MTR | c.2627A>T (p.Tyr876Phe) c.2474A>T (p.Tyr825Phe) c.*1669A>T (n.*1669A>T) c.*1371A>T (n.*1371A>T) c.2279A>T (p.Tyr760Phe) n.2941A>T c.2438A>T (p.Tyr813Phe) n.3071A>T c.2447A>T (p.Tyr816Phe) c.2189A>T (p.Tyr730Phe) n.2821A>T c.1289A>T (p.Tyr430Phe) c.1406A>T (p.Tyr469Phe) c.2624A>T (p.Tyr875Phe) c.1691A>T (p.Tyr564Phe) c.2795A>T (p.Tyr932Phe) c.2642A>T (p.Tyr881Phe) c.2606A>T (p.Tyr869Phe) | |
| 1 | g.236880787dup | CA2651189023 | MTR | c.2627dup (p.Tyr876Ter) c.2474dup (p.Tyr825Ter) c.*1669dup (n.*1669dup) c.*1371dup (n.*1371dup) c.2279dup (p.Tyr760Ter) n.2941dup c.2438dup (p.Tyr813Ter) n.3071dup c.2447dup (p.Tyr816Ter) c.2189dup (p.Tyr730Ter) n.2821dup c.1289dup (p.Tyr430Ter) c.1406dup (p.Tyr469Ter) c.2624dup (p.Tyr875Ter) c.1691dup (p.Tyr564Ter) c.2795dup (p.Tyr932Ter) c.2642dup (p.Tyr881Ter) c.2606dup (p.Tyr869Ter) | gnomAD v4 |
| 1 | g.236880788C>A | CA345383001 | MTR | c.2628C>A (p.Tyr876Ter) c.2475C>A (p.Tyr825Ter) c.*1670C>A (n.*1670C>A) c.*1372C>A (n.*1372C>A) c.2280C>A (p.Tyr760Ter) n.2942C>A c.2439C>A (p.Tyr813Ter) n.3072C>A c.2448C>A (p.Tyr816Ter) c.2190C>A (p.Tyr730Ter) n.2822C>A c.1290C>A (p.Tyr430Ter) c.1407C>A (p.Tyr469Ter) c.2625C>A (p.Tyr875Ter) c.1692C>A (p.Tyr564Ter) c.2796C>A (p.Tyr932Ter) c.2643C>A (p.Tyr881Ter) c.2607C>A (p.Tyr869Ter) | |
| 1 | g.236880788C>G | CA345383003 | MTR | c.2628C>G (p.Tyr876Ter) c.2475C>G (p.Tyr825Ter) c.*1670C>G (n.*1670C>G) c.*1372C>G (n.*1372C>G) c.2280C>G (p.Tyr760Ter) n.2942C>G c.2439C>G (p.Tyr813Ter) n.3072C>G c.2448C>G (p.Tyr816Ter) c.2190C>G (p.Tyr730Ter) n.2822C>G c.1290C>G (p.Tyr430Ter) c.1407C>G (p.Tyr469Ter) c.2625C>G (p.Tyr875Ter) c.1692C>G (p.Tyr564Ter) c.2796C>G (p.Tyr932Ter) c.2643C>G (p.Tyr881Ter) c.2607C>G (p.Tyr869Ter) | |
| 1 | g.236880788C>T | CA423816023 | MTR | c.2628C>T (p.Tyr876=) c.2475C>T (p.Tyr825=) c.*1670C>T (n.*1670C>T) c.*1372C>T (n.*1372C>T) c.2280C>T (p.Tyr760=) n.2942C>T c.2439C>T (p.Tyr813=) n.3072C>T c.2448C>T (p.Tyr816=) c.2190C>T (p.Tyr730=) n.2822C>T c.1290C>T (p.Tyr430=) c.1407C>T (p.Tyr469=) c.2625C>T (p.Tyr875=) c.1692C>T (p.Tyr564=) c.2796C>T (p.Tyr932=) c.2643C>T (p.Tyr881=) c.2607C>T (p.Tyr869=) | |
| 1 | g.236880789A>C | CA345383005 | MTR | c.2629A>C (p.Ser877Arg) c.2476A>C (p.Ser826Arg) c.*1671A>C (n.*1671A>C) c.*1373A>C (n.*1373A>C) c.2281A>C (p.Ser761Arg) n.2943A>C c.2440A>C (p.Ser814Arg) n.3073A>C c.2449A>C (p.Ser817Arg) c.2191A>C (p.Ser731Arg) n.2823A>C c.1291A>C (p.Ser431Arg) c.1408A>C (p.Ser470Arg) c.2626A>C (p.Ser876Arg) c.1693A>C (p.Ser565Arg) c.2797A>C (p.Ser933Arg) c.2644A>C (p.Ser882Arg) c.2608A>C (p.Ser870Arg) | |
| 1 | g.236880789A>G | CA345383006 | MTR | c.2629A>G (p.Ser877Gly) c.2476A>G (p.Ser826Gly) c.*1671A>G (n.*1671A>G) c.*1373A>G (n.*1373A>G) c.2281A>G (p.Ser761Gly) n.2943A>G c.2440A>G (p.Ser814Gly) n.3073A>G c.2449A>G (p.Ser817Gly) c.2191A>G (p.Ser731Gly) n.2823A>G c.1291A>G (p.Ser431Gly) c.1408A>G (p.Ser470Gly) c.2626A>G (p.Ser876Gly) c.1693A>G (p.Ser565Gly) c.2797A>G (p.Ser933Gly) c.2644A>G (p.Ser882Gly) c.2608A>G (p.Ser870Gly) | |
| 1 | g.236880789A>T | CA345383010 | MTR | c.2629A>T (p.Ser877Cys) c.2476A>T (p.Ser826Cys) c.*1671A>T (n.*1671A>T) c.*1373A>T (n.*1373A>T) c.2281A>T (p.Ser761Cys) n.2943A>T c.2440A>T (p.Ser814Cys) n.3073A>T c.2449A>T (p.Ser817Cys) c.2191A>T (p.Ser731Cys) n.2823A>T c.1291A>T (p.Ser431Cys) c.1408A>T (p.Ser470Cys) c.2626A>T (p.Ser876Cys) c.1693A>T (p.Ser565Cys) c.2797A>T (p.Ser933Cys) c.2644A>T (p.Ser882Cys) c.2608A>T (p.Ser870Cys) | |
| 1 | g.236880790G>A | CA39763199 | MTR | c.2630G>A (p.Ser877Asn) c.2477G>A (p.Ser826Asn) c.*1672G>A (n.*1672G>A) c.*1374G>A (n.*1374G>A) c.2282G>A (p.Ser761Asn) n.2944G>A c.2441G>A (p.Ser814Asn) n.3074G>A c.2450G>A (p.Ser817Asn) c.2192G>A (p.Ser731Asn) n.2824G>A c.1292G>A (p.Ser431Asn) c.1409G>A (p.Ser470Asn) c.2627G>A (p.Ser876Asn) c.1694G>A (p.Ser565Asn) c.2798G>A (p.Ser933Asn) c.2645G>A (p.Ser882Asn) c.2609G>A (p.Ser870Asn) | dbSNP |
| 1 | g.236880790G>C | CA345383019 | MTR | c.2630G>C (p.Ser877Thr) c.2477G>C (p.Ser826Thr) c.*1672G>C (n.*1672G>C) c.*1374G>C (n.*1374G>C) c.2282G>C (p.Ser761Thr) n.2944G>C c.2441G>C (p.Ser814Thr) n.3074G>C c.2450G>C (p.Ser817Thr) c.2192G>C (p.Ser731Thr) n.2824G>C c.1292G>C (p.Ser431Thr) c.1409G>C (p.Ser470Thr) c.2627G>C (p.Ser876Thr) c.1694G>C (p.Ser565Thr) c.2798G>C (p.Ser933Thr) c.2645G>C (p.Ser882Thr) c.2609G>C (p.Ser870Thr) | |
| 1 | g.236880790G= | CA2487101837 | MTR | c.2630G= (p.Ser877=) c.2477G= (p.Ser826=) c.*1672G= (n.*1672G=) c.*1374G= (n.*1374G=) c.2282G= (p.Ser761=) n.2944G= c.2441G= (p.Ser814=) n.3074G= c.2450G= (p.Ser817=) c.2192G= (p.Ser731=) n.2824G= c.1292G= (p.Ser431=) c.1409G= (p.Ser470=) c.2627G= (p.Ser876=) c.1694G= (p.Ser565=) c.2798G= (p.Ser933=) c.2645G= (p.Ser882=) c.2609G= (p.Ser870=) | |
| 1 | g.236880790G>T | CA345383016 | MTR | c.2630G>T (p.Ser877Ile) c.2477G>T (p.Ser826Ile) c.*1672G>T (n.*1672G>T) c.*1374G>T (n.*1374G>T) c.2282G>T (p.Ser761Ile) n.2944G>T c.2441G>T (p.Ser814Ile) n.3074G>T c.2450G>T (p.Ser817Ile) c.2192G>T (p.Ser731Ile) n.2824G>T c.1292G>T (p.Ser431Ile) c.1409G>T (p.Ser470Ile) c.2627G>T (p.Ser876Ile) c.1694G>T (p.Ser565Ile) c.2798G>T (p.Ser933Ile) c.2645G>T (p.Ser882Ile) c.2609G>T (p.Ser870Ile) | |
| 1 | g.236880791T>A | CA345383023 | MTR | c.2631T>A (p.Ser877Arg) c.2478T>A (p.Ser826Arg) c.*1673T>A (n.*1673T>A) c.*1375T>A (n.*1375T>A) c.2283T>A (p.Ser761Arg) n.2945T>A c.2442T>A (p.Ser814Arg) n.3075T>A c.2451T>A (p.Ser817Arg) c.2193T>A (p.Ser731Arg) n.2825T>A c.1293T>A (p.Ser431Arg) c.1410T>A (p.Ser470Arg) c.2628T>A (p.Ser876Arg) c.1695T>A (p.Ser565Arg) c.2799T>A (p.Ser933Arg) c.2646T>A (p.Ser882Arg) c.2610T>A (p.Ser870Arg) | |
| 1 | g.236880791T>C | CA423816036 | MTR | c.2631T>C (p.Ser877=) c.2478T>C (p.Ser826=) c.*1673T>C (n.*1673T>C) c.*1375T>C (n.*1375T>C) c.2283T>C (p.Ser761=) n.2945T>C c.2442T>C (p.Ser814=) n.3075T>C c.2451T>C (p.Ser817=) c.2193T>C (p.Ser731=) n.2825T>C c.1293T>C (p.Ser431=) c.1410T>C (p.Ser470=) c.2628T>C (p.Ser876=) c.1695T>C (p.Ser565=) c.2799T>C (p.Ser933=) c.2646T>C (p.Ser882=) c.2610T>C (p.Ser870=) | ClinVar COSMIC |
| 1 | g.236880791T>G | CA345383029 | MTR | c.2631T>G (p.Ser877Arg) c.2478T>G (p.Ser826Arg) c.*1673T>G (n.*1673T>G) c.*1375T>G (n.*1375T>G) c.2283T>G (p.Ser761Arg) n.2945T>G c.2442T>G (p.Ser814Arg) n.3075T>G c.2451T>G (p.Ser817Arg) c.2193T>G (p.Ser731Arg) n.2825T>G c.1293T>G (p.Ser431Arg) c.1410T>G (p.Ser470Arg) c.2628T>G (p.Ser876Arg) c.1695T>G (p.Ser565Arg) c.2799T>G (p.Ser933Arg) c.2646T>G (p.Ser882Arg) c.2610T>G (p.Ser870Arg) | gnomAD v4 |
| 1 | g.236880792G>A | CA345383033 | MTR | c.2632G>A (p.Ala878Thr) c.2479G>A (p.Ala827Thr) c.*1674G>A (n.*1674G>A) c.*1376G>A (n.*1376G>A) c.2284G>A (p.Ala762Thr) n.2946G>A c.2443G>A (p.Ala815Thr) n.3076G>A c.2452G>A (p.Ala818Thr) c.2194G>A (p.Ala732Thr) n.2826G>A c.1294G>A (p.Ala432Thr) c.1411G>A (p.Ala471Thr) c.2629G>A (p.Ala877Thr) c.1696G>A (p.Ala566Thr) c.2800G>A (p.Ala934Thr) c.2647G>A (p.Ala883Thr) c.2611G>A (p.Ala871Thr) | COSMIC |
| 1 | g.236880792G>C | CA345383034 | MTR | c.2632G>C (p.Ala878Pro) c.2479G>C (p.Ala827Pro) c.*1674G>C (n.*1674G>C) c.*1376G>C (n.*1376G>C) c.2284G>C (p.Ala762Pro) n.2946G>C c.2443G>C (p.Ala815Pro) n.3076G>C c.2452G>C (p.Ala818Pro) c.2194G>C (p.Ala732Pro) n.2826G>C c.1294G>C (p.Ala432Pro) c.1411G>C (p.Ala471Pro) c.2629G>C (p.Ala877Pro) c.1696G>C (p.Ala566Pro) c.2800G>C (p.Ala934Pro) c.2647G>C (p.Ala883Pro) c.2611G>C (p.Ala871Pro) | |
| 1 | g.236880792G>T | CA345383038 | MTR | c.2632G>T (p.Ala878Ser) c.2479G>T (p.Ala827Ser) c.*1674G>T (n.*1674G>T) c.*1376G>T (n.*1376G>T) c.2284G>T (p.Ala762Ser) n.2946G>T c.2443G>T (p.Ala815Ser) n.3076G>T c.2452G>T (p.Ala818Ser) c.2194G>T (p.Ala732Ser) n.2826G>T c.1294G>T (p.Ala432Ser) c.1411G>T (p.Ala471Ser) c.2629G>T (p.Ala877Ser) c.1696G>T (p.Ala566Ser) c.2800G>T (p.Ala934Ser) c.2647G>T (p.Ala883Ser) c.2611G>T (p.Ala871Ser) | |
| 1 | g.236880793C>A | CA345383043 | MTR | c.2633C>A (p.Ala878Glu) c.2480C>A (p.Ala827Glu) c.*1675C>A (n.*1675C>A) c.*1377C>A (n.*1377C>A) c.2285C>A (p.Ala762Glu) n.2947C>A c.2444C>A (p.Ala815Glu) n.3077C>A c.2453C>A (p.Ala818Glu) c.2195C>A (p.Ala732Glu) n.2827C>A c.1295C>A (p.Ala432Glu) c.1412C>A (p.Ala471Glu) c.2630C>A (p.Ala877Glu) c.1697C>A (p.Ala566Glu) c.2801C>A (p.Ala934Glu) c.2648C>A (p.Ala883Glu) c.2612C>A (p.Ala871Glu) | |
| 1 | g.236880793C>G | CA345383044 | MTR | c.2633C>G (p.Ala878Gly) c.2480C>G (p.Ala827Gly) c.*1675C>G (n.*1675C>G) c.*1377C>G (n.*1377C>G) c.2285C>G (p.Ala762Gly) n.2947C>G c.2444C>G (p.Ala815Gly) n.3077C>G c.2453C>G (p.Ala818Gly) c.2195C>G (p.Ala732Gly) n.2827C>G c.1295C>G (p.Ala432Gly) c.1412C>G (p.Ala471Gly) c.2630C>G (p.Ala877Gly) c.1697C>G (p.Ala566Gly) c.2801C>G (p.Ala934Gly) c.2648C>G (p.Ala883Gly) c.2612C>G (p.Ala871Gly) | |
| 1 | g.236880793C>T | CA345383051 | MTR | c.2633C>T (p.Ala878Val) c.2480C>T (p.Ala827Val) c.*1675C>T (n.*1675C>T) c.*1377C>T (n.*1377C>T) c.2285C>T (p.Ala762Val) n.2947C>T c.2444C>T (p.Ala815Val) n.3077C>T c.2453C>T (p.Ala818Val) c.2195C>T (p.Ala732Val) n.2827C>T c.1295C>T (p.Ala432Val) c.1412C>T (p.Ala471Val) c.2630C>T (p.Ala877Val) c.1697C>T (p.Ala566Val) c.2801C>T (p.Ala934Val) c.2648C>T (p.Ala883Val) c.2612C>T (p.Ala871Val) | gnomAD v4 |
| 1 | g.236880794A>C | CA423816050 | MTR | c.2634A>C (p.Ala878=) c.2481A>C (p.Ala827=) c.*1676A>C (n.*1676A>C) c.*1378A>C (n.*1378A>C) c.2286A>C (p.Ala762=) n.2948A>C c.2445A>C (p.Ala815=) n.3078A>C c.2454A>C (p.Ala818=) c.2196A>C (p.Ala732=) n.2828A>C c.1296A>C (p.Ala432=) c.1413A>C (p.Ala471=) c.2631A>C (p.Ala877=) c.1698A>C (p.Ala566=) c.2802A>C (p.Ala934=) c.2649A>C (p.Ala883=) c.2613A>C (p.Ala871=) | |
| 1 | g.236880794A>G | CA423816048 | MTR | c.2634A>G (p.Ala878=) c.2481A>G (p.Ala827=) c.*1676A>G (n.*1676A>G) c.*1378A>G (n.*1378A>G) c.2286A>G (p.Ala762=) n.2948A>G c.2445A>G (p.Ala815=) n.3078A>G c.2454A>G (p.Ala818=) c.2196A>G (p.Ala732=) n.2828A>G c.1296A>G (p.Ala432=) c.1413A>G (p.Ala471=) c.2631A>G (p.Ala877=) c.1698A>G (p.Ala566=) c.2802A>G (p.Ala934=) c.2649A>G (p.Ala883=) c.2613A>G (p.Ala871=) | |
| 1 | g.236880794A>T | CA423816046 | MTR | c.2634A>T (p.Ala878=) c.2481A>T (p.Ala827=) c.*1676A>T (n.*1676A>T) c.*1378A>T (n.*1378A>T) c.2286A>T (p.Ala762=) n.2948A>T c.2445A>T (p.Ala815=) n.3078A>T c.2454A>T (p.Ala818=) c.2196A>T (p.Ala732=) n.2828A>T c.1296A>T (p.Ala432=) c.1413A>T (p.Ala471=) c.2631A>T (p.Ala877=) c.1698A>T (p.Ala566=) c.2802A>T (p.Ala934=) c.2649A>T (p.Ala883=) c.2613A>T (p.Ala871=) | |
| 1 | g.236880795C>A | CA345383053 | MTR | c.2635C>A (p.Pro879Thr) c.2482C>A (p.Pro828Thr) c.*1677C>A (n.*1677C>A) c.*1379C>A (n.*1379C>A) c.2287C>A (p.Pro763Thr) n.2949C>A c.2446C>A (p.Pro816Thr) n.3079C>A c.2455C>A (p.Pro819Thr) c.2197C>A (p.Pro733Thr) n.2829C>A c.1297C>A (p.Pro433Thr) c.1414C>A (p.Pro472Thr) c.2632C>A (p.Pro878Thr) c.1699C>A (p.Pro567Thr) c.2803C>A (p.Pro935Thr) c.2650C>A (p.Pro884Thr) c.2614C>A (p.Pro872Thr) | |
| 1 | g.236880795C= | CA2487101838 | MTR | c.2635C= (p.Pro879=) c.2482C= (p.Pro828=) c.*1677C= (n.*1677C=) c.*1379C= (n.*1379C=) c.2287C= (p.Pro763=) n.2949C= c.2446C= (p.Pro816=) n.3079C= c.2455C= (p.Pro819=) c.2197C= (p.Pro733=) n.2829C= c.1297C= (p.Pro433=) c.1414C= (p.Pro472=) c.2632C= (p.Pro878=) c.1699C= (p.Pro567=) c.2803C= (p.Pro935=) c.2650C= (p.Pro884=) c.2614C= (p.Pro872=) | |
| 1 | g.236880795C>G | CA345383055 | MTR | c.2635C>G (p.Pro879Ala) c.2482C>G (p.Pro828Ala) c.*1677C>G (n.*1677C>G) c.*1379C>G (n.*1379C>G) c.2287C>G (p.Pro763Ala) n.2949C>G c.2446C>G (p.Pro816Ala) n.3079C>G c.2455C>G (p.Pro819Ala) c.2197C>G (p.Pro733Ala) n.2829C>G c.1297C>G (p.Pro433Ala) c.1414C>G (p.Pro472Ala) c.2632C>G (p.Pro878Ala) c.1699C>G (p.Pro567Ala) c.2803C>G (p.Pro935Ala) c.2650C>G (p.Pro884Ala) c.2614C>G (p.Pro872Ala) | |
| 1 | g.236880795C>T | CA1474458 | MTR | c.2635C>T (p.Pro879Ser) c.2482C>T (p.Pro828Ser) c.*1677C>T (n.*1677C>T) c.*1379C>T (n.*1379C>T) c.2287C>T (p.Pro763Ser) n.2949C>T c.2446C>T (p.Pro816Ser) n.3079C>T c.2455C>T (p.Pro819Ser) c.2197C>T (p.Pro733Ser) n.2829C>T c.1297C>T (p.Pro433Ser) c.1414C>T (p.Pro472Ser) c.2632C>T (p.Pro878Ser) c.1699C>T (p.Pro567Ser) c.2803C>T (p.Pro935Ser) c.2650C>T (p.Pro884Ser) c.2614C>T (p.Pro872Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880796C>A | CA345383073 | MTR | c.2636C>A (p.Pro879His) c.2483C>A (p.Pro828His) c.*1678C>A (n.*1678C>A) c.*1380C>A (n.*1380C>A) c.2288C>A (p.Pro763His) n.2950C>A c.2447C>A (p.Pro816His) n.3080C>A c.2456C>A (p.Pro819His) c.2198C>A (p.Pro733His) n.2830C>A c.1298C>A (p.Pro433His) c.1415C>A (p.Pro472His) c.2633C>A (p.Pro878His) c.1700C>A (p.Pro567His) c.2804C>A (p.Pro935His) c.2651C>A (p.Pro884His) c.2615C>A (p.Pro872His) | |
| 1 | g.236880796C>G | CA345383072 | MTR | c.2636C>G (p.Pro879Arg) c.2483C>G (p.Pro828Arg) c.*1678C>G (n.*1678C>G) c.*1380C>G (n.*1380C>G) c.2288C>G (p.Pro763Arg) n.2950C>G c.2447C>G (p.Pro816Arg) n.3080C>G c.2456C>G (p.Pro819Arg) c.2198C>G (p.Pro733Arg) n.2830C>G c.1298C>G (p.Pro433Arg) c.1415C>G (p.Pro472Arg) c.2633C>G (p.Pro878Arg) c.1700C>G (p.Pro567Arg) c.2804C>G (p.Pro935Arg) c.2651C>G (p.Pro884Arg) c.2615C>G (p.Pro872Arg) | |
| 1 | g.236880796C>T | CA345383066 | MTR | c.2636C>T (p.Pro879Leu) c.2483C>T (p.Pro828Leu) c.*1678C>T (n.*1678C>T) c.*1380C>T (n.*1380C>T) c.2288C>T (p.Pro763Leu) n.2950C>T c.2447C>T (p.Pro816Leu) n.3080C>T c.2456C>T (p.Pro819Leu) c.2198C>T (p.Pro733Leu) n.2830C>T c.1298C>T (p.Pro433Leu) c.1415C>T (p.Pro472Leu) c.2633C>T (p.Pro878Leu) c.1700C>T (p.Pro567Leu) c.2804C>T (p.Pro935Leu) c.2651C>T (p.Pro884Leu) c.2615C>T (p.Pro872Leu) | |
| 1 | g.236880797T>A | CA423816060 | MTR | c.2637T>A (p.Pro879=) c.2484T>A (p.Pro828=) c.*1679T>A (n.*1679T>A) c.*1381T>A (n.*1381T>A) c.2289T>A (p.Pro763=) n.2951T>A c.2448T>A (p.Pro816=) n.3081T>A c.2457T>A (p.Pro819=) c.2199T>A (p.Pro733=) n.2831T>A c.1299T>A (p.Pro433=) c.1416T>A (p.Pro472=) c.2634T>A (p.Pro878=) c.1701T>A (p.Pro567=) c.2805T>A (p.Pro935=) c.2652T>A (p.Pro884=) c.2616T>A (p.Pro872=) | |
| 1 | g.236880797T>C | CA1474459 | MTR | c.2637T>C (p.Pro879=) c.2484T>C (p.Pro828=) c.*1679T>C (n.*1679T>C) c.*1381T>C (n.*1381T>C) c.2289T>C (p.Pro763=) n.2951T>C c.2448T>C (p.Pro816=) n.3081T>C c.2457T>C (p.Pro819=) c.2199T>C (p.Pro733=) n.2831T>C c.1299T>C (p.Pro433=) c.1416T>C (p.Pro472=) c.2634T>C (p.Pro878=) c.1701T>C (p.Pro567=) c.2805T>C (p.Pro935=) c.2652T>C (p.Pro884=) c.2616T>C (p.Pro872=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880797T>G | CA423816062 | MTR | c.2637T>G (p.Pro879=) c.2484T>G (p.Pro828=) c.*1679T>G (n.*1679T>G) c.*1381T>G (n.*1381T>G) c.2289T>G (p.Pro763=) n.2951T>G c.2448T>G (p.Pro816=) n.3081T>G c.2457T>G (p.Pro819=) c.2199T>G (p.Pro733=) n.2831T>G c.1299T>G (p.Pro433=) c.1416T>G (p.Pro472=) c.2634T>G (p.Pro878=) c.1701T>G (p.Pro567=) c.2805T>G (p.Pro935=) c.2652T>G (p.Pro884=) c.2616T>G (p.Pro872=) | |
| 1 | g.236880797T= | CA2487101839 | MTR | c.2637T= (p.Pro879=) c.2484T= (p.Pro828=) c.*1679T= (n.*1679T=) c.*1381T= (n.*1381T=) c.2289T= (p.Pro763=) n.2951T= c.2448T= (p.Pro816=) n.3081T= c.2457T= (p.Pro819=) c.2199T= (p.Pro733=) n.2831T= c.1299T= (p.Pro433=) c.1416T= (p.Pro472=) c.2634T= (p.Pro878=) c.1701T= (p.Pro567=) c.2805T= (p.Pro935=) c.2652T= (p.Pro884=) c.2616T= (p.Pro872=) | |
| 1 | g.236880798G>A | CA345383078 | MTR | c.2638G>A (p.Val880Ile) c.2485G>A (p.Val829Ile) c.*1680G>A (n.*1680G>A) c.*1382G>A (n.*1382G>A) c.2290G>A (p.Val764Ile) n.2952G>A c.2449G>A (p.Val817Ile) n.3082G>A c.2458G>A (p.Val820Ile) c.2200G>A (p.Val734Ile) n.2832G>A c.1300G>A (p.Val434Ile) c.1417G>A (p.Val473Ile) c.2635G>A (p.Val879Ile) c.1702G>A (p.Val568Ile) c.2806G>A (p.Val936Ile) c.2653G>A (p.Val885Ile) c.2617G>A (p.Val873Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880798G>C | CA345383083 | MTR | c.2638G>C (p.Val880Leu) c.2485G>C (p.Val829Leu) c.*1680G>C (n.*1680G>C) c.*1382G>C (n.*1382G>C) c.2290G>C (p.Val764Leu) n.2952G>C c.2449G>C (p.Val817Leu) n.3082G>C c.2458G>C (p.Val820Leu) c.2200G>C (p.Val734Leu) n.2832G>C c.1300G>C (p.Val434Leu) c.1417G>C (p.Val473Leu) c.2635G>C (p.Val879Leu) c.1702G>C (p.Val568Leu) c.2806G>C (p.Val936Leu) c.2653G>C (p.Val885Leu) c.2617G>C (p.Val873Leu) | |
| 1 | g.236880798G= | CA2487101841 | MTR | c.2638G= (p.Val880=) c.2485G= (p.Val829=) c.*1680G= (n.*1680G=) c.*1382G= (n.*1382G=) c.2290G= (p.Val764=) n.2952G= c.2449G= (p.Val817=) n.3082G= c.2458G= (p.Val820=) c.2200G= (p.Val734=) n.2832G= c.1300G= (p.Val434=) c.1417G= (p.Val473=) c.2635G= (p.Val879=) c.1702G= (p.Val568=) c.2806G= (p.Val936=) c.2653G= (p.Val885=) c.2617G= (p.Val873=) | |
| 1 | g.236880798G>T | CA345383085 | MTR | c.2638G>T (p.Val880Leu) c.2485G>T (p.Val829Leu) c.*1680G>T (n.*1680G>T) c.*1382G>T (n.*1382G>T) c.2290G>T (p.Val764Leu) n.2952G>T c.2449G>T (p.Val817Leu) n.3082G>T c.2458G>T (p.Val820Leu) c.2200G>T (p.Val734Leu) n.2832G>T c.1300G>T (p.Val434Leu) c.1417G>T (p.Val473Leu) c.2635G>T (p.Val879Leu) c.1702G>T (p.Val568Leu) c.2806G>T (p.Val936Leu) c.2653G>T (p.Val885Leu) c.2617G>T (p.Val873Leu) | gnomAD v4 |
| 1 | g.236880798_236880801delinsGTAA | CA2487101840 | MTR | c.2638_2641delinsGTAA (p.Val880=) c.2485_2488delinsGTAA (p.Val829=) c.*1680_*1683delinsGTAA (n.*1680_*1683delinsGTAA) c.*1382_*1385delinsGTAA (n.*1382_*1385delinsGTAA) c.2290_2293delinsGTAA (p.Val764=) n.2952_2955delinsGTAA c.2449_2452delinsGTAA (p.Val817=) n.3082_3085delinsGTAA c.2458_2461delinsGTAA (p.Val820=) c.2200_2203delinsGTAA (p.Val734=) n.2832_2835delinsGTAA c.1300_1303delinsGTAA (p.Val434=) c.1417_1420delinsGTAA (p.Val473=) c.2635_2638delinsGTAA (p.Val879=) c.1702_1705delinsGTAA (p.Val568=) c.2806_2809delinsGTAA (p.Val936=) c.2653_2656delinsGTAA (p.Val885=) c.2617_2620delinsGTAA (p.Val873=) | |
| 1 | g.236880799T>A | CA345383090 | MTR | c.2639T>A (p.Val880Glu) c.2486T>A (p.Val829Glu) c.*1681T>A (n.*1681T>A) c.*1383T>A (n.*1383T>A) c.2291T>A (p.Val764Glu) n.2953T>A c.2450T>A (p.Val817Glu) n.3083T>A c.2459T>A (p.Val820Glu) c.2201T>A (p.Val734Glu) n.2833T>A c.1301T>A (p.Val434Glu) c.1418T>A (p.Val473Glu) c.2636T>A (p.Val879Glu) c.1703T>A (p.Val568Glu) c.2807T>A (p.Val936Glu) c.2654T>A (p.Val885Glu) c.2618T>A (p.Val873Glu) | |
| 1 | g.236880799T>C | CA345383091 | MTR | c.2639T>C (p.Val880Ala) c.2486T>C (p.Val829Ala) c.*1681T>C (n.*1681T>C) c.*1383T>C (n.*1383T>C) c.2291T>C (p.Val764Ala) n.2953T>C c.2450T>C (p.Val817Ala) n.3083T>C c.2459T>C (p.Val820Ala) c.2201T>C (p.Val734Ala) n.2833T>C c.1301T>C (p.Val434Ala) c.1418T>C (p.Val473Ala) c.2636T>C (p.Val879Ala) c.1703T>C (p.Val568Ala) c.2807T>C (p.Val936Ala) c.2654T>C (p.Val885Ala) c.2618T>C (p.Val873Ala) | |
| 1 | g.236880799T>G | CA345383092 | MTR | c.2639T>G (p.Val880Gly) c.2486T>G (p.Val829Gly) c.*1681T>G (n.*1681T>G) c.*1383T>G (n.*1383T>G) c.2291T>G (p.Val764Gly) n.2953T>G c.2450T>G (p.Val817Gly) n.3083T>G c.2459T>G (p.Val820Gly) c.2201T>G (p.Val734Gly) n.2833T>G c.1301T>G (p.Val434Gly) c.1418T>G (p.Val473Gly) c.2636T>G (p.Val879Gly) c.1703T>G (p.Val568Gly) c.2807T>G (p.Val936Gly) c.2654T>G (p.Val885Gly) c.2618T>G (p.Val873Gly) | |
| 1 | g.236880800_236880802del | CA257193 | MTR | c.2640_2642del (p.Ile881del) c.2487_2489del (p.Ile830del) c.*1682_*1684del (n.*1682_*1684del) c.*1384_*1386del (n.*1384_*1386del) c.2292_2294del (p.Ile765del) n.2954_2956del c.2451_2453del (p.Ile818del) n.3084_3086del c.2460_2462del (p.Ile821del) c.2202_2204del (p.Ile735del) n.2834_2836del c.1302_1304del (p.Ile435del) c.1419_1421del (p.Ile474del) c.2637_2639del (p.Ile880del) c.1704_1706del (p.Ile569del) c.2808_2810del (p.Ile937del) c.2655_2657del (p.Ile886del) c.2619_2621del (p.Ile874del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880800A>C | CA423816078 | MTR | c.2640A>C (p.Val880=) c.2487A>C (p.Val829=) c.*1682A>C (n.*1682A>C) c.*1384A>C (n.*1384A>C) c.2292A>C (p.Val764=) n.2954A>C c.2451A>C (p.Val817=) n.3084A>C c.2460A>C (p.Val820=) c.2202A>C (p.Val734=) n.2834A>C c.1302A>C (p.Val434=) c.1419A>C (p.Val473=) c.2637A>C (p.Val879=) c.1704A>C (p.Val568=) c.2808A>C (p.Val936=) c.2655A>C (p.Val885=) c.2619A>C (p.Val873=) | |
| 1 | g.236880800A>G | CA423816079 | MTR | c.2640A>G (p.Val880=) c.2487A>G (p.Val829=) c.*1682A>G (n.*1682A>G) c.*1384A>G (n.*1384A>G) c.2292A>G (p.Val764=) n.2954A>G c.2451A>G (p.Val817=) n.3084A>G c.2460A>G (p.Val820=) c.2202A>G (p.Val734=) n.2834A>G c.1302A>G (p.Val434=) c.1419A>G (p.Val473=) c.2637A>G (p.Val879=) c.1704A>G (p.Val568=) c.2808A>G (p.Val936=) c.2655A>G (p.Val885=) c.2619A>G (p.Val873=) | |
| 1 | g.236880800A>T | CA423816082 | MTR | c.2640A>T (p.Val880=) c.2487A>T (p.Val829=) c.*1682A>T (n.*1682A>T) c.*1384A>T (n.*1384A>T) c.2292A>T (p.Val764=) n.2954A>T c.2451A>T (p.Val817=) n.3084A>T c.2460A>T (p.Val820=) c.2202A>T (p.Val734=) n.2834A>T c.1302A>T (p.Val434=) c.1419A>T (p.Val473=) c.2637A>T (p.Val879=) c.1704A>T (p.Val568=) c.2808A>T (p.Val936=) c.2655A>T (p.Val885=) c.2619A>T (p.Val873=) | |
| 1 | g.236880801A>C | CA345383093 | MTR | c.2641A>C (p.Ile881Leu) c.2488A>C (p.Ile830Leu) c.*1683A>C (n.*1683A>C) c.*1385A>C (n.*1385A>C) c.2293A>C (p.Ile765Leu) n.2955A>C c.2452A>C (p.Ile818Leu) n.3085A>C c.2461A>C (p.Ile821Leu) c.2203A>C (p.Ile735Leu) n.2835A>C c.1303A>C (p.Ile435Leu) c.1420A>C (p.Ile474Leu) c.2638A>C (p.Ile880Leu) c.1705A>C (p.Ile569Leu) c.2809A>C (p.Ile937Leu) c.2656A>C (p.Ile886Leu) c.2620A>C (p.Ile874Leu) | gnomAD v4 |
| 1 | g.236880801A>G | CA345383094 | MTR | c.2641A>G (p.Ile881Val) c.2488A>G (p.Ile830Val) c.*1683A>G (n.*1683A>G) c.*1385A>G (n.*1385A>G) c.2293A>G (p.Ile765Val) n.2955A>G c.2452A>G (p.Ile818Val) n.3085A>G c.2461A>G (p.Ile821Val) c.2203A>G (p.Ile735Val) n.2835A>G c.1303A>G (p.Ile435Val) c.1420A>G (p.Ile474Val) c.2638A>G (p.Ile880Val) c.1705A>G (p.Ile569Val) c.2809A>G (p.Ile937Val) c.2656A>G (p.Ile886Val) c.2620A>G (p.Ile874Val) | gnomAD v4 |
| 1 | g.236880801A>T | CA345383095 | MTR | c.2641A>T (p.Ile881Phe) c.2488A>T (p.Ile830Phe) c.*1683A>T (n.*1683A>T) c.*1385A>T (n.*1385A>T) c.2293A>T (p.Ile765Phe) n.2955A>T c.2452A>T (p.Ile818Phe) n.3085A>T c.2461A>T (p.Ile821Phe) c.2203A>T (p.Ile735Phe) n.2835A>T c.1303A>T (p.Ile435Phe) c.1420A>T (p.Ile474Phe) c.2638A>T (p.Ile880Phe) c.1705A>T (p.Ile569Phe) c.2809A>T (p.Ile937Phe) c.2656A>T (p.Ile886Phe) c.2620A>T (p.Ile874Phe) | |
| 1 | g.236880802T>A | CA345383101 | MTR | c.2642T>A (p.Ile881Asn) c.2489T>A (p.Ile830Asn) c.*1684T>A (n.*1684T>A) c.*1386T>A (n.*1386T>A) c.2294T>A (p.Ile765Asn) n.2956T>A c.2453T>A (p.Ile818Asn) n.3086T>A c.2462T>A (p.Ile821Asn) c.2204T>A (p.Ile735Asn) n.2836T>A c.1304T>A (p.Ile435Asn) c.1421T>A (p.Ile474Asn) c.2639T>A (p.Ile880Asn) c.1706T>A (p.Ile569Asn) c.2810T>A (p.Ile937Asn) c.2657T>A (p.Ile886Asn) c.2621T>A (p.Ile874Asn) | |
| 1 | g.236880802T>C | CA345383098 | MTR | c.2642T>C (p.Ile881Thr) c.2489T>C (p.Ile830Thr) c.*1684T>C (n.*1684T>C) c.*1386T>C (n.*1386T>C) c.2294T>C (p.Ile765Thr) n.2956T>C c.2453T>C (p.Ile818Thr) n.3086T>C c.2462T>C (p.Ile821Thr) c.2204T>C (p.Ile735Thr) n.2836T>C c.1304T>C (p.Ile435Thr) c.1421T>C (p.Ile474Thr) c.2639T>C (p.Ile880Thr) c.1706T>C (p.Ile569Thr) c.2810T>C (p.Ile937Thr) c.2657T>C (p.Ile886Thr) c.2621T>C (p.Ile874Thr) | |
| 1 | g.236880802T>G | CA345383097 | MTR | c.2642T>G (p.Ile881Ser) c.2489T>G (p.Ile830Ser) c.*1684T>G (n.*1684T>G) c.*1386T>G (n.*1386T>G) c.2294T>G (p.Ile765Ser) n.2956T>G c.2453T>G (p.Ile818Ser) n.3086T>G c.2462T>G (p.Ile821Ser) c.2204T>G (p.Ile735Ser) n.2836T>G c.1304T>G (p.Ile435Ser) c.1421T>G (p.Ile474Ser) c.2639T>G (p.Ile880Ser) c.1706T>G (p.Ile569Ser) c.2810T>G (p.Ile937Ser) c.2657T>G (p.Ile886Ser) c.2621T>G (p.Ile874Ser) | |
| 1 | g.236880803C>A | CA423816089 | MTR | c.2643C>A (p.Ile881=) c.2490C>A (p.Ile830=) c.*1685C>A (n.*1685C>A) c.*1387C>A (n.*1387C>A) c.2295C>A (p.Ile765=) n.2957C>A c.2454C>A (p.Ile818=) n.3087C>A c.2463C>A (p.Ile821=) c.2205C>A (p.Ile735=) n.2837C>A c.1305C>A (p.Ile435=) c.1422C>A (p.Ile474=) c.2640C>A (p.Ile880=) c.1707C>A (p.Ile569=) c.2811C>A (p.Ile937=) c.2658C>A (p.Ile886=) c.2622C>A (p.Ile874=) | gnomAD v4 |
| 1 | g.236880803C>G | CA345383103 | MTR | c.2643C>G (p.Ile881Met) c.2490C>G (p.Ile830Met) c.*1685C>G (n.*1685C>G) c.*1387C>G (n.*1387C>G) c.2295C>G (p.Ile765Met) n.2957C>G c.2454C>G (p.Ile818Met) n.3087C>G c.2463C>G (p.Ile821Met) c.2205C>G (p.Ile735Met) n.2837C>G c.1305C>G (p.Ile435Met) c.1422C>G (p.Ile474Met) c.2640C>G (p.Ile880Met) c.1707C>G (p.Ile569Met) c.2811C>G (p.Ile937Met) c.2658C>G (p.Ile886Met) c.2622C>G (p.Ile874Met) | |
| 1 | g.236880803C>T | CA423816092 | MTR | c.2643C>T (p.Ile881=) c.2490C>T (p.Ile830=) c.*1685C>T (n.*1685C>T) c.*1387C>T (n.*1387C>T) c.2295C>T (p.Ile765=) n.2957C>T c.2454C>T (p.Ile818=) n.3087C>T c.2463C>T (p.Ile821=) c.2205C>T (p.Ile735=) n.2837C>T c.1305C>T (p.Ile435=) c.1422C>T (p.Ile474=) c.2640C>T (p.Ile880=) c.1707C>T (p.Ile569=) c.2811C>T (p.Ile937=) c.2658C>T (p.Ile886=) c.2622C>T (p.Ile874=) | |
| 1 | g.236880804C>A | CA345383105 | MTR | c.2644C>A (p.His882Asn) c.2491C>A (p.His831Asn) c.*1686C>A (n.*1686C>A) c.*1388C>A (n.*1388C>A) c.2296C>A (p.His766Asn) n.2958C>A c.2455C>A (p.His819Asn) n.3088C>A c.2464C>A (p.His822Asn) c.2206C>A (p.His736Asn) n.2838C>A c.1306C>A (p.His436Asn) c.1423C>A (p.His475Asn) c.2641C>A (p.His881Asn) c.1708C>A (p.His570Asn) c.2812C>A (p.His938Asn) c.2659C>A (p.His887Asn) c.2623C>A (p.His875Asn) | |
| 1 | g.236880804C>G | CA345383104 | MTR | c.2644C>G (p.His882Asp) c.2491C>G (p.His831Asp) c.*1686C>G (n.*1686C>G) c.*1388C>G (n.*1388C>G) c.2296C>G (p.His766Asp) n.2958C>G c.2455C>G (p.His819Asp) n.3088C>G c.2464C>G (p.His822Asp) c.2206C>G (p.His736Asp) n.2838C>G c.1306C>G (p.His436Asp) c.1423C>G (p.His475Asp) c.2641C>G (p.His881Asp) c.1708C>G (p.His570Asp) c.2812C>G (p.His938Asp) c.2659C>G (p.His887Asp) c.2623C>G (p.His875Asp) | |
| 1 | g.236880804C>T | CA345383106 | MTR | c.2644C>T (p.His882Tyr) c.2491C>T (p.His831Tyr) c.*1686C>T (n.*1686C>T) c.*1388C>T (n.*1388C>T) c.2296C>T (p.His766Tyr) n.2958C>T c.2455C>T (p.His819Tyr) n.3088C>T c.2464C>T (p.His822Tyr) c.2206C>T (p.His736Tyr) n.2838C>T c.1306C>T (p.His436Tyr) c.1423C>T (p.His475Tyr) c.2641C>T (p.His881Tyr) c.1708C>T (p.His570Tyr) c.2812C>T (p.His938Tyr) c.2659C>T (p.His887Tyr) c.2623C>T (p.His875Tyr) | |
| 1 | g.236880805A>C | CA345383107 | MTR | c.2645A>C (p.His882Pro) c.2492A>C (p.His831Pro) c.*1687A>C (n.*1687A>C) c.*1389A>C (n.*1389A>C) c.2297A>C (p.His766Pro) n.2959A>C c.2456A>C (p.His819Pro) n.3089A>C c.2465A>C (p.His822Pro) c.2207A>C (p.His736Pro) n.2839A>C c.1307A>C (p.His436Pro) c.1424A>C (p.His475Pro) c.2642A>C (p.His881Pro) c.1709A>C (p.His570Pro) c.2813A>C (p.His938Pro) c.2660A>C (p.His887Pro) c.2624A>C (p.His875Pro) | |
| 1 | g.236880805A>G | CA345383108 | MTR | c.2645A>G (p.His882Arg) c.2492A>G (p.His831Arg) c.*1687A>G (n.*1687A>G) c.*1389A>G (n.*1389A>G) c.2297A>G (p.His766Arg) n.2959A>G c.2456A>G (p.His819Arg) n.3089A>G c.2465A>G (p.His822Arg) c.2207A>G (p.His736Arg) n.2839A>G c.1307A>G (p.His436Arg) c.1424A>G (p.His475Arg) c.2642A>G (p.His881Arg) c.1709A>G (p.His570Arg) c.2813A>G (p.His938Arg) c.2660A>G (p.His887Arg) c.2624A>G (p.His875Arg) | gnomAD v4 |
| 1 | g.236880805A>T | CA345383109 | MTR | c.2645A>T (p.His882Leu) c.2492A>T (p.His831Leu) c.*1687A>T (n.*1687A>T) c.*1389A>T (n.*1389A>T) c.2297A>T (p.His766Leu) n.2959A>T c.2456A>T (p.His819Leu) n.3089A>T c.2465A>T (p.His822Leu) c.2207A>T (p.His736Leu) n.2839A>T c.1307A>T (p.His436Leu) c.1424A>T (p.His475Leu) c.2642A>T (p.His881Leu) c.1709A>T (p.His570Leu) c.2813A>T (p.His938Leu) c.2660A>T (p.His887Leu) c.2624A>T (p.His875Leu) | |
| 1 | g.236880806T>A | CA345383112 | MTR | c.2646T>A (p.His882Gln) c.2493T>A (p.His831Gln) c.*1688T>A (n.*1688T>A) c.*1390T>A (n.*1390T>A) c.2298T>A (p.His766Gln) n.2960T>A c.2457T>A (p.His819Gln) n.3090T>A c.2466T>A (p.His822Gln) c.2208T>A (p.His736Gln) n.2840T>A c.1308T>A (p.His436Gln) c.1425T>A (p.His475Gln) c.2643T>A (p.His881Gln) c.1710T>A (p.His570Gln) c.2814T>A (p.His938Gln) c.2661T>A (p.His887Gln) c.2625T>A (p.His875Gln) | |
| 1 | g.236880806T>C | CA1474460 | MTR | c.2646T>C (p.His882=) c.2493T>C (p.His831=) c.*1688T>C (n.*1688T>C) c.*1390T>C (n.*1390T>C) c.2298T>C (p.His766=) n.2960T>C c.2457T>C (p.His819=) n.3090T>C c.2466T>C (p.His822=) c.2208T>C (p.His736=) n.2840T>C c.1308T>C (p.His436=) c.1425T>C (p.His475=) c.2643T>C (p.His881=) c.1710T>C (p.His570=) c.2814T>C (p.His938=) c.2661T>C (p.His887=) c.2625T>C (p.His875=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880806T>G | CA345383115 | MTR | c.2646T>G (p.His882Gln) c.2493T>G (p.His831Gln) c.*1688T>G (n.*1688T>G) c.*1390T>G (n.*1390T>G) c.2298T>G (p.His766Gln) n.2960T>G c.2457T>G (p.His819Gln) n.3090T>G c.2466T>G (p.His822Gln) c.2208T>G (p.His736Gln) n.2840T>G c.1308T>G (p.His436Gln) c.1425T>G (p.His475Gln) c.2643T>G (p.His881Gln) c.1710T>G (p.His570Gln) c.2814T>G (p.His938Gln) c.2661T>G (p.His887Gln) c.2625T>G (p.His875Gln) | |
| 1 | g.236880806T= | CA2487101842 | MTR | c.2646T= (p.His882=) c.2493T= (p.His831=) c.*1688T= (n.*1688T=) c.*1390T= (n.*1390T=) c.2298T= (p.His766=) n.2960T= c.2457T= (p.His819=) n.3090T= c.2466T= (p.His822=) c.2208T= (p.His736=) n.2840T= c.1308T= (p.His436=) c.1425T= (p.His475=) c.2643T= (p.His881=) c.1710T= (p.His570=) c.2814T= (p.His938=) c.2661T= (p.His887=) c.2625T= (p.His875=) | |
| 1 | g.236880807G>A | CA1474461 | MTR | c.2647G>A (p.Val883Ile) c.2494G>A (p.Val832Ile) c.*1689G>A (n.*1689G>A) c.*1391G>A (n.*1391G>A) c.2299G>A (p.Val767Ile) n.2961G>A c.2458G>A (p.Val820Ile) n.3091G>A c.2467G>A (p.Val823Ile) c.2209G>A (p.Val737Ile) n.2841G>A c.1309G>A (p.Val437Ile) c.1426G>A (p.Val476Ile) c.2644G>A (p.Val882Ile) c.1711G>A (p.Val571Ile) c.2815G>A (p.Val939Ile) c.2662G>A (p.Val888Ile) c.2626G>A (p.Val876Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236880807G>C | CA345383120 | MTR | c.2647G>C (p.Val883Leu) c.2494G>C (p.Val832Leu) c.*1689G>C (n.*1689G>C) c.*1391G>C (n.*1391G>C) c.2299G>C (p.Val767Leu) n.2961G>C c.2458G>C (p.Val820Leu) n.3091G>C c.2467G>C (p.Val823Leu) c.2209G>C (p.Val737Leu) n.2841G>C c.1309G>C (p.Val437Leu) c.1426G>C (p.Val476Leu) c.2644G>C (p.Val882Leu) c.1711G>C (p.Val571Leu) c.2815G>C (p.Val939Leu) c.2662G>C (p.Val888Leu) c.2626G>C (p.Val876Leu) | |
| 1 | g.236880807G= | CA2487101843 | MTR | c.2647G= (p.Val883=) c.2494G= (p.Val832=) c.*1689G= (n.*1689G=) c.*1391G= (n.*1391G=) c.2299G= (p.Val767=) n.2961G= c.2458G= (p.Val820=) n.3091G= c.2467G= (p.Val823=) c.2209G= (p.Val737=) n.2841G= c.1309G= (p.Val437=) c.1426G= (p.Val476=) c.2644G= (p.Val882=) c.1711G= (p.Val571=) c.2815G= (p.Val939=) c.2662G= (p.Val888=) c.2626G= (p.Val876=) | |
| 1 | g.236880807G>T | CA345383126 | MTR | c.2647G>T (p.Val883Phe) c.2494G>T (p.Val832Phe) c.*1689G>T (n.*1689G>T) c.*1391G>T (n.*1391G>T) c.2299G>T (p.Val767Phe) n.2961G>T c.2458G>T (p.Val820Phe) n.3091G>T c.2467G>T (p.Val823Phe) c.2209G>T (p.Val737Phe) n.2841G>T c.1309G>T (p.Val437Phe) c.1426G>T (p.Val476Phe) c.2644G>T (p.Val882Phe) c.1711G>T (p.Val571Phe) c.2815G>T (p.Val939Phe) c.2662G>T (p.Val888Phe) c.2626G>T (p.Val876Phe) | |
| 1 | g.236880808T>A | CA345383131 | MTR | c.2648T>A (p.Val883Asp) c.2495T>A (p.Val832Asp) c.*1690T>A (n.*1690T>A) c.*1392T>A (n.*1392T>A) c.2300T>A (p.Val767Asp) n.2962T>A c.2459T>A (p.Val820Asp) n.3092T>A c.2468T>A (p.Val823Asp) c.2210T>A (p.Val737Asp) n.2842T>A c.1310T>A (p.Val437Asp) c.1427T>A (p.Val476Asp) c.2645T>A (p.Val882Asp) c.1712T>A (p.Val571Asp) c.2816T>A (p.Val939Asp) c.2663T>A (p.Val888Asp) c.2627T>A (p.Val876Asp) | |
| 1 | g.236880808T>C | CA345383135 | MTR | c.2648T>C (p.Val883Ala) c.2495T>C (p.Val832Ala) c.*1690T>C (n.*1690T>C) c.*1392T>C (n.*1392T>C) c.2300T>C (p.Val767Ala) n.2962T>C c.2459T>C (p.Val820Ala) n.3092T>C c.2468T>C (p.Val823Ala) c.2210T>C (p.Val737Ala) n.2842T>C c.1310T>C (p.Val437Ala) c.1427T>C (p.Val476Ala) c.2645T>C (p.Val882Ala) c.1712T>C (p.Val571Ala) c.2816T>C (p.Val939Ala) c.2663T>C (p.Val888Ala) c.2627T>C (p.Val876Ala) | |
| 1 | g.236880808T>G | CA345383137 | MTR | c.2648T>G (p.Val883Gly) c.2495T>G (p.Val832Gly) c.*1690T>G (n.*1690T>G) c.*1392T>G (n.*1392T>G) c.2300T>G (p.Val767Gly) n.2962T>G c.2459T>G (p.Val820Gly) n.3092T>G c.2468T>G (p.Val823Gly) c.2210T>G (p.Val737Gly) n.2842T>G c.1310T>G (p.Val437Gly) c.1427T>G (p.Val476Gly) c.2645T>G (p.Val882Gly) c.1712T>G (p.Val571Gly) c.2816T>G (p.Val939Gly) c.2663T>G (p.Val888Gly) c.2627T>G (p.Val876Gly) | |
| 1 | g.236880809C>A | CA423816113 | MTR | c.2649C>A (p.Val883=) c.2496C>A (p.Val832=) c.*1691C>A (n.*1691C>A) c.*1393C>A (n.*1393C>A) c.2301C>A (p.Val767=) n.2963C>A c.2460C>A (p.Val820=) n.3093C>A c.2469C>A (p.Val823=) c.2211C>A (p.Val737=) n.2843C>A c.1311C>A (p.Val437=) c.1428C>A (p.Val476=) c.2646C>A (p.Val882=) c.1713C>A (p.Val571=) c.2817C>A (p.Val939=) c.2664C>A (p.Val888=) c.2628C>A (p.Val876=) | |
| 1 | g.236880809C>G | CA423816115 | MTR | c.2649C>G (p.Val883=) c.2496C>G (p.Val832=) c.*1691C>G (n.*1691C>G) c.*1393C>G (n.*1393C>G) c.2301C>G (p.Val767=) n.2963C>G c.2460C>G (p.Val820=) n.3093C>G c.2469C>G (p.Val823=) c.2211C>G (p.Val737=) n.2843C>G c.1311C>G (p.Val437=) c.1428C>G (p.Val476=) c.2646C>G (p.Val882=) c.1713C>G (p.Val571=) c.2817C>G (p.Val939=) c.2664C>G (p.Val888=) c.2628C>G (p.Val876=) | |
| 1 | g.236880809C>T | CA423816116 | MTR | c.2649C>T (p.Val883=) c.2496C>T (p.Val832=) c.*1691C>T (n.*1691C>T) c.*1393C>T (n.*1393C>T) c.2301C>T (p.Val767=) n.2963C>T c.2460C>T (p.Val820=) n.3093C>T c.2469C>T (p.Val823=) c.2211C>T (p.Val737=) n.2843C>T c.1311C>T (p.Val437=) c.1428C>T (p.Val476=) c.2646C>T (p.Val882=) c.1713C>T (p.Val571=) c.2817C>T (p.Val939=) c.2664C>T (p.Val888=) c.2628C>T (p.Val876=) | |
| 1 | g.236880810C>A | CA345383139 | MTR | c.2650C>A (p.Leu884Met) c.2497C>A (p.Leu833Met) c.*1692C>A (n.*1692C>A) c.*1394C>A (n.*1394C>A) c.2302C>A (p.Leu768Met) n.2964C>A c.2461C>A (p.Leu821Met) n.3094C>A c.2470C>A (p.Leu824Met) c.2212C>A (p.Leu738Met) n.2844C>A c.1312C>A (p.Leu438Met) c.1429C>A (p.Leu477Met) c.2647C>A (p.Leu883Met) c.1714C>A (p.Leu572Met) c.2818C>A (p.Leu940Met) c.2665C>A (p.Leu889Met) c.2629C>A (p.Leu877Met) | gnomAD v4 |
| 1 | g.236880810C= | CA2487101844 | MTR | c.2650C= (p.Leu884=) c.2497C= (p.Leu833=) c.*1692C= (n.*1692C=) c.*1394C= (n.*1394C=) c.2302C= (p.Leu768=) n.2964C= c.2461C= (p.Leu821=) n.3094C= c.2470C= (p.Leu824=) c.2212C= (p.Leu738=) n.2844C= c.1312C= (p.Leu438=) c.1429C= (p.Leu477=) c.2647C= (p.Leu883=) c.1714C= (p.Leu572=) c.2818C= (p.Leu940=) c.2665C= (p.Leu889=) c.2629C= (p.Leu877=) | |
| 1 | g.236880810C>G | CA345383138 | MTR | c.2650C>G (p.Leu884Val) c.2497C>G (p.Leu833Val) c.*1692C>G (n.*1692C>G) c.*1394C>G (n.*1394C>G) c.2302C>G (p.Leu768Val) n.2964C>G c.2461C>G (p.Leu821Val) n.3094C>G c.2470C>G (p.Leu824Val) c.2212C>G (p.Leu738Val) n.2844C>G c.1312C>G (p.Leu438Val) c.1429C>G (p.Leu477Val) c.2647C>G (p.Leu883Val) c.1714C>G (p.Leu572Val) c.2818C>G (p.Leu940Val) c.2665C>G (p.Leu889Val) c.2629C>G (p.Leu877Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236880810C>T | CA423816120 | MTR | c.2650C>T (p.Leu884=) c.2497C>T (p.Leu833=) c.*1692C>T (n.*1692C>T) c.*1394C>T (n.*1394C>T) c.2302C>T (p.Leu768=) n.2964C>T c.2461C>T (p.Leu821=) n.3094C>T c.2470C>T (p.Leu824=) c.2212C>T (p.Leu738=) n.2844C>T c.1312C>T (p.Leu438=) c.1429C>T (p.Leu477=) c.2647C>T (p.Leu883=) c.1714C>T (p.Leu572=) c.2818C>T (p.Leu940=) c.2665C>T (p.Leu889=) c.2629C>T (p.Leu877=) | gnomAD v4 |
| 1 | g.236880811T>A | CA345383140 | MTR | c.2651T>A (p.Leu884Gln) c.2498T>A (p.Leu833Gln) c.*1693T>A (n.*1693T>A) c.*1395T>A (n.*1395T>A) c.2303T>A (p.Leu768Gln) n.2965T>A c.2462T>A (p.Leu821Gln) n.3095T>A c.2471T>A (p.Leu824Gln) c.2213T>A (p.Leu738Gln) n.2845T>A c.1313T>A (p.Leu438Gln) c.1430T>A (p.Leu477Gln) c.2648T>A (p.Leu883Gln) c.1715T>A (p.Leu572Gln) c.2819T>A (p.Leu940Gln) c.2666T>A (p.Leu889Gln) c.2630T>A (p.Leu877Gln) | |
| 1 | g.236880811T>C | CA1474462 | MTR | c.2651T>C (p.Leu884Pro) c.2498T>C (p.Leu833Pro) c.*1693T>C (n.*1693T>C) c.*1395T>C (n.*1395T>C) c.2303T>C (p.Leu768Pro) n.2965T>C c.2462T>C (p.Leu821Pro) n.3095T>C c.2471T>C (p.Leu824Pro) c.2213T>C (p.Leu738Pro) n.2845T>C c.1313T>C (p.Leu438Pro) c.1430T>C (p.Leu477Pro) c.2648T>C (p.Leu883Pro) c.1715T>C (p.Leu572Pro) c.2819T>C (p.Leu940Pro) c.2666T>C (p.Leu889Pro) c.2630T>C (p.Leu877Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.236880811T>G | CA345383144 | MTR | c.2651T>G (p.Leu884Arg) c.2498T>G (p.Leu833Arg) c.*1693T>G (n.*1693T>G) c.*1395T>G (n.*1395T>G) c.2303T>G (p.Leu768Arg) n.2965T>G c.2462T>G (p.Leu821Arg) n.3095T>G c.2471T>G (p.Leu824Arg) c.2213T>G (p.Leu738Arg) n.2845T>G c.1313T>G (p.Leu438Arg) c.1430T>G (p.Leu477Arg) c.2648T>G (p.Leu883Arg) c.1715T>G (p.Leu572Arg) c.2819T>G (p.Leu940Arg) c.2666T>G (p.Leu889Arg) c.2630T>G (p.Leu877Arg) | |
| 1 | g.236880811T= | CA2487101845 | MTR | c.2651T= (p.Leu884=) c.2498T= (p.Leu833=) c.*1693T= (n.*1693T=) c.*1395T= (n.*1395T=) c.2303T= (p.Leu768=) n.2965T= c.2462T= (p.Leu821=) n.3095T= c.2471T= (p.Leu824=) c.2213T= (p.Leu738=) n.2845T= c.1313T= (p.Leu438=) c.1430T= (p.Leu477=) c.2648T= (p.Leu883=) c.1715T= (p.Leu572=) c.2819T= (p.Leu940=) c.2666T= (p.Leu889=) c.2630T= (p.Leu877=) | |
| 1 | g.236880812G>A | CA423816126 | MTR | c.2652G>A (p.Leu884=) c.2499G>A (p.Leu833=) c.*1694G>A (n.*1694G>A) c.*1396G>A (n.*1396G>A) c.2304G>A (p.Leu768=) n.2966G>A c.2463G>A (p.Leu821=) n.3096G>A c.2472G>A (p.Leu824=) c.2214G>A (p.Leu738=) n.2846G>A c.1314G>A (p.Leu438=) c.1431G>A (p.Leu477=) c.2649G>A (p.Leu883=) c.1716G>A (p.Leu572=) c.2820G>A (p.Leu940=) c.2667G>A (p.Leu889=) c.2631G>A (p.Leu877=) | |
| 1 | g.236880812G>C | CA423816128 | MTR | c.2652G>C (p.Leu884=) c.2499G>C (p.Leu833=) c.*1694G>C (n.*1694G>C) c.*1396G>C (n.*1396G>C) c.2304G>C (p.Leu768=) n.2966G>C c.2463G>C (p.Leu821=) n.3096G>C c.2472G>C (p.Leu824=) c.2214G>C (p.Leu738=) n.2846G>C c.1314G>C (p.Leu438=) c.1431G>C (p.Leu477=) c.2649G>C (p.Leu883=) c.1716G>C (p.Leu572=) c.2820G>C (p.Leu940=) c.2667G>C (p.Leu889=) c.2631G>C (p.Leu877=) | |
| 1 | g.236880812G>T | CA423816130 | MTR | c.2652G>T (p.Leu884=) c.2499G>T (p.Leu833=) c.*1694G>T (n.*1694G>T) c.*1396G>T (n.*1396G>T) c.2304G>T (p.Leu768=) n.2966G>T c.2463G>T (p.Leu821=) n.3096G>T c.2472G>T (p.Leu824=) c.2214G>T (p.Leu738=) n.2846G>T c.1314G>T (p.Leu438=) c.1431G>T (p.Leu477=) c.2649G>T (p.Leu883=) c.1716G>T (p.Leu572=) c.2820G>T (p.Leu940=) c.2667G>T (p.Leu889=) c.2631G>T (p.Leu877=) | |
| 1 | g.236880813G>A | CA345383146 | MTR | c.2653G>A (p.Asp885Asn) c.2500G>A (p.Asp834Asn) c.*1695G>A (n.*1695G>A) c.*1397G>A (n.*1397G>A) c.2305G>A (p.Asp769Asn) n.2967G>A c.2464G>A (p.Asp822Asn) n.3097G>A c.2473G>A (p.Asp825Asn) c.2215G>A (p.Asp739Asn) n.2847G>A c.1315G>A (p.Asp439Asn) c.1432G>A (p.Asp478Asn) c.2650G>A (p.Asp884Asn) c.1717G>A (p.Asp573Asn) c.2821G>A (p.Asp941Asn) c.2668G>A (p.Asp890Asn) c.2632G>A (p.Asp878Asn) | |
| 1 | g.236880813G>C | CA345383148 | MTR | c.2653G>C (p.Asp885His) c.2500G>C (p.Asp834His) c.*1695G>C (n.*1695G>C) c.*1397G>C (n.*1397G>C) c.2305G>C (p.Asp769His) n.2967G>C c.2464G>C (p.Asp822His) n.3097G>C c.2473G>C (p.Asp825His) c.2215G>C (p.Asp739His) n.2847G>C c.1315G>C (p.Asp439His) c.1432G>C (p.Asp478His) c.2650G>C (p.Asp884His) c.1717G>C (p.Asp573His) c.2821G>C (p.Asp941His) c.2668G>C (p.Asp890His) c.2632G>C (p.Asp878His) | |
| 1 | g.236880813G>T | CA345383152 | MTR | c.2653G>T (p.Asp885Tyr) c.2500G>T (p.Asp834Tyr) c.*1695G>T (n.*1695G>T) c.*1397G>T (n.*1397G>T) c.2305G>T (p.Asp769Tyr) n.2967G>T c.2464G>T (p.Asp822Tyr) n.3097G>T c.2473G>T (p.Asp825Tyr) c.2215G>T (p.Asp739Tyr) n.2847G>T c.1315G>T (p.Asp439Tyr) c.1432G>T (p.Asp478Tyr) c.2650G>T (p.Asp884Tyr) c.1717G>T (p.Asp573Tyr) c.2821G>T (p.Asp941Tyr) c.2668G>T (p.Asp890Tyr) c.2632G>T (p.Asp878Tyr) | |
| 1 | g.236880814A= | CA2487101846 | MTR | c.2654A= (p.Asp885=) c.2501A= (p.Asp834=) c.*1696A= (n.*1696A=) c.*1398A= (n.*1398A=) c.2306A= (p.Asp769=) n.2968A= c.2465A= (p.Asp822=) n.3098A= c.2474A= (p.Asp825=) c.2216A= (p.Asp739=) n.2848A= c.1316A= (p.Asp439=) c.1433A= (p.Asp478=) c.2651A= (p.Asp884=) c.1718A= (p.Asp573=) c.2822A= (p.Asp941=) c.2669A= (p.Asp890=) c.2633A= (p.Asp878=) | |
| 1 | g.236880814A>C | CA345383154 | MTR | c.2654A>C (p.Asp885Ala) c.2501A>C (p.Asp834Ala) c.*1696A>C (n.*1696A>C) c.*1398A>C (n.*1398A>C) c.2306A>C (p.Asp769Ala) n.2968A>C c.2465A>C (p.Asp822Ala) n.3098A>C c.2474A>C (p.Asp825Ala) c.2216A>C (p.Asp739Ala) n.2848A>C c.1316A>C (p.Asp439Ala) c.1433A>C (p.Asp478Ala) c.2651A>C (p.Asp884Ala) c.1718A>C (p.Asp573Ala) c.2822A>C (p.Asp941Ala) c.2669A>C (p.Asp890Ala) c.2633A>C (p.Asp878Ala) | |
| 1 | g.236880814A>G | CA345383158 | MTR | c.2654A>G (p.Asp885Gly) c.2501A>G (p.Asp834Gly) c.*1696A>G (n.*1696A>G) c.*1398A>G (n.*1398A>G) c.2306A>G (p.Asp769Gly) n.2968A>G c.2465A>G (p.Asp822Gly) n.3098A>G c.2474A>G (p.Asp825Gly) c.2216A>G (p.Asp739Gly) n.2848A>G c.1316A>G (p.Asp439Gly) c.1433A>G (p.Asp478Gly) c.2651A>G (p.Asp884Gly) c.1718A>G (p.Asp573Gly) c.2822A>G (p.Asp941Gly) c.2669A>G (p.Asp890Gly) c.2633A>G (p.Asp878Gly) | dbSNP |
| 1 | g.236880814A>T | CA345383160 | MTR | c.2654A>T (p.Asp885Val) c.2501A>T (p.Asp834Val) c.*1696A>T (n.*1696A>T) c.*1398A>T (n.*1398A>T) c.2306A>T (p.Asp769Val) n.2968A>T c.2465A>T (p.Asp822Val) n.3098A>T c.2474A>T (p.Asp825Val) c.2216A>T (p.Asp739Val) n.2848A>T c.1316A>T (p.Asp439Val) c.1433A>T (p.Asp478Val) c.2651A>T (p.Asp884Val) c.1718A>T (p.Asp573Val) c.2822A>T (p.Asp941Val) c.2669A>T (p.Asp890Val) c.2633A>T (p.Asp878Val) | |
| 1 | g.236880815C>A | CA345383162 | MTR | c.2655C>A (p.Asp885Glu) c.2502C>A (p.Asp834Glu) c.*1697C>A (n.*1697C>A) c.*1399C>A (n.*1399C>A) c.2307C>A (p.Asp769Glu) n.2969C>A c.2466C>A (p.Asp822Glu) n.3099C>A c.2475C>A (p.Asp825Glu) c.2217C>A (p.Asp739Glu) n.2849C>A c.1317C>A (p.Asp439Glu) c.1434C>A (p.Asp478Glu) c.2652C>A (p.Asp884Glu) c.1719C>A (p.Asp573Glu) c.2823C>A (p.Asp941Glu) c.2670C>A (p.Asp890Glu) c.2634C>A (p.Asp878Glu) | |
| 1 | g.236880815C= | CA1141714384 | MTR | c.2655C= (p.Asp885=) c.2502C= (p.Asp834=) c.*1697C= (n.*1697C=) c.*1399C= (n.*1399C=) c.2307C= (p.Asp769=) n.2969C= c.2466C= (p.Asp822=) n.3099C= c.2475C= (p.Asp825=) c.2217C= (p.Asp739=) n.2849C= c.1317C= (p.Asp439=) c.1434C= (p.Asp478=) c.2652C= (p.Asp884=) c.1719C= (p.Asp573=) c.2823C= (p.Asp941=) c.2670C= (p.Asp890=) c.2634C= (p.Asp878=) | |
| 1 | g.236880815C>G | CA345383165 | MTR | c.2655C>G (p.Asp885Glu) c.2502C>G (p.Asp834Glu) c.*1697C>G (n.*1697C>G) c.*1399C>G (n.*1399C>G) c.2307C>G (p.Asp769Glu) n.2969C>G c.2466C>G (p.Asp822Glu) n.3099C>G c.2475C>G (p.Asp825Glu) c.2217C>G (p.Asp739Glu) n.2849C>G c.1317C>G (p.Asp439Glu) c.1434C>G (p.Asp478Glu) c.2652C>G (p.Asp884Glu) c.1719C>G (p.Asp573Glu) c.2823C>G (p.Asp941Glu) c.2670C>G (p.Asp890Glu) c.2634C>G (p.Asp878Glu) | |
| 1 | g.236880815C>T | CA1474463 | MTR | c.2655C>T (p.Asp885=) c.2502C>T (p.Asp834=) c.*1697C>T (n.*1697C>T) c.*1399C>T (n.*1399C>T) c.2307C>T (p.Asp769=) n.2969C>T c.2466C>T (p.Asp822=) n.3099C>T c.2475C>T (p.Asp825=) c.2217C>T (p.Asp739=) n.2849C>T c.1317C>T (p.Asp439=) c.1434C>T (p.Asp478=) c.2652C>T (p.Asp884=) c.1719C>T (p.Asp573=) c.2823C>T (p.Asp941=) c.2670C>T (p.Asp890=) c.2634C>T (p.Asp878=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880816G>A | CA345383174 | MTR | c.2656G>A (p.Ala886Thr) c.2503G>A (p.Ala835Thr) c.*1698G>A (n.*1698G>A) c.*1400G>A (n.*1400G>A) c.2308G>A (p.Ala770Thr) n.2970G>A c.2467G>A (p.Ala823Thr) n.3100G>A c.2476G>A (p.Ala826Thr) c.2218G>A (p.Ala740Thr) n.2850G>A c.1318G>A (p.Ala440Thr) c.1435G>A (p.Ala479Thr) c.2653G>A (p.Ala885Thr) c.1720G>A (p.Ala574Thr) c.2824G>A (p.Ala942Thr) c.2671G>A (p.Ala891Thr) c.2635G>A (p.Ala879Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236880816G>C | CA345383177 | MTR | c.2656G>C (p.Ala886Pro) c.2503G>C (p.Ala835Pro) c.*1698G>C (n.*1698G>C) c.*1400G>C (n.*1400G>C) c.2308G>C (p.Ala770Pro) n.2970G>C c.2467G>C (p.Ala823Pro) n.3100G>C c.2476G>C (p.Ala826Pro) c.2218G>C (p.Ala740Pro) n.2850G>C c.1318G>C (p.Ala440Pro) c.1435G>C (p.Ala479Pro) c.2653G>C (p.Ala885Pro) c.1720G>C (p.Ala574Pro) c.2824G>C (p.Ala942Pro) c.2671G>C (p.Ala891Pro) c.2635G>C (p.Ala879Pro) | |
| 1 | g.236880816G= | CA2487101847 | MTR | c.2656G= (p.Ala886=) c.2503G= (p.Ala835=) c.*1698G= (n.*1698G=) c.*1400G= (n.*1400G=) c.2308G= (p.Ala770=) n.2970G= c.2467G= (p.Ala823=) n.3100G= c.2476G= (p.Ala826=) c.2218G= (p.Ala740=) n.2850G= c.1318G= (p.Ala440=) c.1435G= (p.Ala479=) c.2653G= (p.Ala885=) c.1720G= (p.Ala574=) c.2824G= (p.Ala942=) c.2671G= (p.Ala891=) c.2635G= (p.Ala879=) | |
| 1 | g.236880816G>T | CA345383171 | MTR | c.2656G>T (p.Ala886Ser) c.2503G>T (p.Ala835Ser) c.*1698G>T (n.*1698G>T) c.*1400G>T (n.*1400G>T) c.2308G>T (p.Ala770Ser) n.2970G>T c.2467G>T (p.Ala823Ser) n.3100G>T c.2476G>T (p.Ala826Ser) c.2218G>T (p.Ala740Ser) n.2850G>T c.1318G>T (p.Ala440Ser) c.1435G>T (p.Ala479Ser) c.2653G>T (p.Ala885Ser) c.1720G>T (p.Ala574Ser) c.2824G>T (p.Ala942Ser) c.2671G>T (p.Ala891Ser) c.2635G>T (p.Ala879Ser) | |
| 1 | g.236880817C>A | CA345383182 | MTR | c.2657C>A (p.Ala886Glu) c.2504C>A (p.Ala835Glu) c.*1699C>A (n.*1699C>A) c.*1401C>A (n.*1401C>A) c.2309C>A (p.Ala770Glu) n.2971C>A c.2468C>A (p.Ala823Glu) n.3101C>A c.2477C>A (p.Ala826Glu) c.2219C>A (p.Ala740Glu) n.2851C>A c.1319C>A (p.Ala440Glu) c.1436C>A (p.Ala479Glu) c.2654C>A (p.Ala885Glu) c.1721C>A (p.Ala574Glu) c.2825C>A (p.Ala942Glu) c.2672C>A (p.Ala891Glu) c.2636C>A (p.Ala879Glu) | |
| 1 | g.236880817C= | CA2487101848 | MTR | c.2657C= (p.Ala886=) c.2504C= (p.Ala835=) c.*1699C= (n.*1699C=) c.*1401C= (n.*1401C=) c.2309C= (p.Ala770=) n.2971C= c.2468C= (p.Ala823=) n.3101C= c.2477C= (p.Ala826=) c.2219C= (p.Ala740=) n.2851C= c.1319C= (p.Ala440=) c.1436C= (p.Ala479=) c.2654C= (p.Ala885=) c.1721C= (p.Ala574=) c.2825C= (p.Ala942=) c.2672C= (p.Ala891=) c.2636C= (p.Ala879=) | |
| 1 | g.236880817C>G | CA345383190 | MTR | c.2657C>G (p.Ala886Gly) c.2504C>G (p.Ala835Gly) c.*1699C>G (n.*1699C>G) c.*1401C>G (n.*1401C>G) c.2309C>G (p.Ala770Gly) n.2971C>G c.2468C>G (p.Ala823Gly) n.3101C>G c.2477C>G (p.Ala826Gly) c.2219C>G (p.Ala740Gly) n.2851C>G c.1319C>G (p.Ala440Gly) c.1436C>G (p.Ala479Gly) c.2654C>G (p.Ala885Gly) c.1721C>G (p.Ala574Gly) c.2825C>G (p.Ala942Gly) c.2672C>G (p.Ala891Gly) c.2636C>G (p.Ala879Gly) | |
| 1 | g.236880817C>T | CA345383193 | MTR | c.2657C>T (p.Ala886Val) c.2504C>T (p.Ala835Val) c.*1699C>T (n.*1699C>T) c.*1401C>T (n.*1401C>T) c.2309C>T (p.Ala770Val) n.2971C>T c.2468C>T (p.Ala823Val) n.3101C>T c.2477C>T (p.Ala826Val) c.2219C>T (p.Ala740Val) n.2851C>T c.1319C>T (p.Ala440Val) c.1436C>T (p.Ala479Val) c.2654C>T (p.Ala885Val) c.1721C>T (p.Ala574Val) c.2825C>T (p.Ala942Val) c.2672C>T (p.Ala891Val) c.2636C>T (p.Ala879Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236880818G>A | CA1474464 | MTR | c.2658G>A (p.Ala886=) c.2505G>A (p.Ala835=) c.*1700G>A (n.*1700G>A) c.*1402G>A (n.*1402G>A) c.2310G>A (p.Ala770=) n.2972G>A c.2469G>A (p.Ala823=) n.3102G>A c.2478G>A (p.Ala826=) c.2220G>A (p.Ala740=) n.2852G>A c.1320G>A (p.Ala440=) c.1437G>A (p.Ala479=) c.2655G>A (p.Ala885=) c.1722G>A (p.Ala574=) c.2826G>A (p.Ala942=) c.2673G>A (p.Ala891=) c.2637G>A (p.Ala879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236880818G>C | CA423816150 | MTR | c.2658G>C (p.Ala886=) c.2505G>C (p.Ala835=) c.*1700G>C (n.*1700G>C) c.*1402G>C (n.*1402G>C) c.2310G>C (p.Ala770=) n.2972G>C c.2469G>C (p.Ala823=) n.3102G>C c.2478G>C (p.Ala826=) c.2220G>C (p.Ala740=) n.2852G>C c.1320G>C (p.Ala440=) c.1437G>C (p.Ala479=) c.2655G>C (p.Ala885=) c.1722G>C (p.Ala574=) c.2826G>C (p.Ala942=) c.2673G>C (p.Ala891=) c.2637G>C (p.Ala879=) | |
| 1 | g.236880818G= | CA1141874217 | MTR | c.2658G= (p.Ala886=) c.2505G= (p.Ala835=) c.*1700G= (n.*1700G=) c.*1402G= (n.*1402G=) c.2310G= (p.Ala770=) n.2972G= c.2469G= (p.Ala823=) n.3102G= c.2478G= (p.Ala826=) c.2220G= (p.Ala740=) n.2852G= c.1320G= (p.Ala440=) c.1437G= (p.Ala479=) c.2655G= (p.Ala885=) c.1722G= (p.Ala574=) c.2826G= (p.Ala942=) c.2673G= (p.Ala891=) c.2637G= (p.Ala879=) | |
| 1 | g.236880818G>T | CA423816152 | MTR | c.2658G>T (p.Ala886=) c.2505G>T (p.Ala835=) c.*1700G>T (n.*1700G>T) c.*1402G>T (n.*1402G>T) c.2310G>T (p.Ala770=) n.2972G>T c.2469G>T (p.Ala823=) n.3102G>T c.2478G>T (p.Ala826=) c.2220G>T (p.Ala740=) n.2852G>T c.1320G>T (p.Ala440=) c.1437G>T (p.Ala479=) c.2655G>T (p.Ala885=) c.1722G>T (p.Ala574=) c.2826G>T (p.Ala942=) c.2673G>T (p.Ala891=) c.2637G>T (p.Ala879=) | |
| 1 | g.236880819T>A | CA345383201 | MTR | c.2659T>A (p.Ser887Thr) c.2506T>A (p.Ser836Thr) c.*1701T>A (n.*1701T>A) c.*1403T>A (n.*1403T>A) c.2311T>A (p.Ser771Thr) n.2973T>A c.2470T>A (p.Ser824Thr) n.3103T>A c.2479T>A (p.Ser827Thr) c.2221T>A (p.Ser741Thr) n.2853T>A c.1321T>A (p.Ser441Thr) c.1438T>A (p.Ser480Thr) c.2656T>A (p.Ser886Thr) c.1723T>A (p.Ser575Thr) c.2827T>A (p.Ser943Thr) c.2674T>A (p.Ser892Thr) c.2638T>A (p.Ser880Thr) | |
| 1 | g.236880819T>C | CA345383202 | MTR | c.2659T>C (p.Ser887Pro) c.2506T>C (p.Ser836Pro) c.*1701T>C (n.*1701T>C) c.*1403T>C (n.*1403T>C) c.2311T>C (p.Ser771Pro) n.2973T>C c.2470T>C (p.Ser824Pro) n.3103T>C c.2479T>C (p.Ser827Pro) c.2221T>C (p.Ser741Pro) n.2853T>C c.1321T>C (p.Ser441Pro) c.1438T>C (p.Ser480Pro) c.2656T>C (p.Ser886Pro) c.1723T>C (p.Ser575Pro) c.2827T>C (p.Ser943Pro) c.2674T>C (p.Ser892Pro) c.2638T>C (p.Ser880Pro) | |
| 1 | g.236880819T>G | CA345383203 | MTR | c.2659T>G (p.Ser887Ala) c.2506T>G (p.Ser836Ala) c.*1701T>G (n.*1701T>G) c.*1403T>G (n.*1403T>G) c.2311T>G (p.Ser771Ala) n.2973T>G c.2470T>G (p.Ser824Ala) n.3103T>G c.2479T>G (p.Ser827Ala) c.2221T>G (p.Ser741Ala) n.2853T>G c.1321T>G (p.Ser441Ala) c.1438T>G (p.Ser480Ala) c.2656T>G (p.Ser886Ala) c.1723T>G (p.Ser575Ala) c.2827T>G (p.Ser943Ala) c.2674T>G (p.Ser892Ala) c.2638T>G (p.Ser880Ala) |