Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.49431819A= | CA1627374050 | MMUT | c.2162T= (p.Val721=) | |
6 | g.49431819A>C | CA364583010 | MMUT | c.2162T>G (p.Val721Gly) | |
6 | g.49431819A>G | CA3846632 | MMUT | c.2162T>C (p.Val721Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49431819A>T | CA312773 | MMUT | c.2162T>A (p.Val721Glu) | dbSNP |
6 | g.49431820C>A | CA3846633 | MMUT | c.2161G>T (p.Val721Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49431820C= | CA1627374054 | MMUT | c.2161G= (p.Val721=) | |
6 | g.49431820C>G | CA364583011 | MMUT | c.2161G>C (p.Val721Leu) | |
6 | g.49431820C>T | CA3846634 | MMUT | c.2161G>A (p.Val721Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49431821A= | CA1627374057 | MMUT | c.2160T= (p.Asn720=) | |
6 | g.49431821A>C | CA364583012 | MMUT | c.2160T>G (p.Asn720Lys) | |
6 | g.49431821A>G | CA3846635 | MMUT | c.2160T>C (p.Asn720=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49431821A>T | CA364583013 | MMUT | c.2160T>A (p.Asn720Lys) | |
6 | g.49431821_49431822del | CA2573140871 | MMUT | c.2159_2160del (p.Asn720SerfsTer17) | ClinVar dbSNP |
6 | g.49431822T>A | CA364583014 | MMUT | c.2159A>T (p.Asn720Ile) | ClinVar dbSNP gnomAD v4 |
6 | g.49431822T>C | CA364583015 | MMUT | c.2159A>G (p.Asn720Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.49431822T>G | CA364583016 | MMUT | c.2159A>C (p.Asn720Thr) | |
6 | g.49431822T= | CA1627374060 | MMUT | c.2159A= (p.Asn720=) | |
6 | g.49431823T>A | CA364583017 | MMUT | c.2158A>T (p.Asn720Tyr) | |
6 | g.49431823T>C | CA3846636 | MMUT | c.2158A>G (p.Asn720Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49431823T>G | CA364583018 | MMUT | c.2158A>C (p.Asn720His) | |
6 | g.49431823T= | CA1627374066 | MMUT | c.2158A= (p.Asn720=) | |
6 | g.49431824G>A | CA450513351 | MMUT | c.2157C>T (p.Ser719=) | gnomAD v4 |
6 | g.49431824G>C | CA450513352 | MMUT | c.2157C>G (p.Ser719=) | |
6 | g.49431824G>T | CA450513353 | MMUT | c.2157C>A (p.Ser719=) | |
6 | g.49431825del | CA2695206503 | MMUT | c.2157del (p.Asn720MetfsTer?) | |
6 | g.49431825G>A | CA364583020 | MMUT | c.2156C>T (p.Ser719Phe) | |
6 | g.49431825G>C | CA364583021 | MMUT | c.2156C>G (p.Ser719Cys) | |
6 | g.49431825G>T | CA364583019 | MMUT | c.2156C>A (p.Ser719Tyr) | |
6 | g.49431826A= | CA1627374068 | MMUT | c.2155T= (p.Ser719=) | |
6 | g.49431826A>C | CA364583022 | MMUT | c.2155T>G (p.Ser719Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49431826A>G | CA364583024 | MMUT | c.2155T>C (p.Ser719Pro) | |
6 | g.49431826A>T | CA364583023 | MMUT | c.2155T>A (p.Ser719Thr) | |
6 | g.49431827A>C | CA450513354 | MMUT | c.2154T>G (p.Val718=) | gnomAD v4 |
6 | g.49431827A>G | CA450513355 | MMUT | c.2154T>C (p.Val718=) | |
6 | g.49431827A>T | CA450513356 | MMUT | c.2154T>A (p.Val718=) | |
6 | g.49431828A>C | CA364583025 | MMUT | c.2153T>G (p.Val718Gly) | |
6 | g.49431828A>G | CA364583026 | MMUT | c.2153T>C (p.Val718Ala) | |
6 | g.49431828A>T | CA364583027 | MMUT | c.2153T>A (p.Val718Asp) | |
6 | g.49431829C>A | CA364583028 | MMUT | c.2152G>T (p.Val718Phe) | |
6 | g.49431829C>G | CA364583029 | MMUT | c.2152G>C (p.Val718Leu) | |
6 | g.49431829C>T | CA364583030 | MMUT | c.2152G>A (p.Val718Ile) | gnomAD v4 |
6 | g.49431829_49431833delinsCACCA | CA1627374071 | MMUT | c.2148_2152delinsTGGTG (p.Val716=) | |
6 | g.49431830A>C | CA450513357 | MMUT | c.2151T>G (p.Gly717=) | |
6 | g.49431830A>G | CA450513358 | MMUT | c.2151T>C (p.Gly717=) | |
6 | g.49431830A>T | CA450513359 | MMUT | c.2151T>A (p.Gly717=) | |
6 | g.49431832_49431835del | CA3846637 | MMUT | c.2148_2151del (p.Gly717PhefsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49431831C>A | CA249729 | MMUT | c.2150G>T (p.Gly717Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49431831C= | CA1627374075 | MMUT | c.2150G= (p.Gly717=) | |
6 | g.49431831C>G | CA364583031 | MMUT | c.2150G>C (p.Gly717Ala) | gnomAD v4 |
6 | g.49431831C>T | CA364583032 | MMUT | c.2150G>A (p.Gly717Asp) | ClinVar |