Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.172448147_172448194del | CA2668560151 | GHSR | c.224_271del (p.Arg75_Leu90del) | gnomAD v4 |
3 | g.172448166G>A | CA355515913 | GHSR | c.248C>T (p.Ser83Phe) | |
3 | g.172448166G>C | CA355515914 | GHSR | c.248C>G (p.Ser83Cys) | |
3 | g.172448166G>T | CA355515918 | GHSR | c.248C>A (p.Ser83Tyr) | |
3 | g.172448167A= | CA1420511799 | GHSR | c.247T= (p.Ser83=) | |
3 | g.172448167A>C | CA355515920 | GHSR | c.247T>G (p.Ser83Ala) | dbSNP |
3 | g.172448167A>G | CA355515922 | GHSR | c.247T>C (p.Ser83Pro) | |
3 | g.172448167A>T | CA355515924 | GHSR | c.247T>A (p.Ser83Thr) | |
3 | g.172448168C>A | CA436965461 | GHSR | c.246G>T (p.Leu82=) | |
3 | g.172448168C>G | CA436965462 | GHSR | c.246G>C (p.Leu82=) | |
3 | g.172448168C>T | CA436965463 | GHSR | c.246G>A (p.Leu82=) | gnomAD v4 |
3 | g.172448169A>C | CA355515927 | GHSR | c.245T>G (p.Leu82Arg) | |
3 | g.172448169A>G | CA355515937 | GHSR | c.245T>C (p.Leu82Pro) | |
3 | g.172448169A>T | CA355515930 | GHSR | c.245T>A (p.Leu82Gln) | |
3 | g.172448170G>A | CA436965465 | GHSR | c.244C>T (p.Leu82=) | |
3 | g.172448170G>C | CA355515940 | GHSR | c.244C>G (p.Leu82Val) | gnomAD v4 |
3 | g.172448170G>T | CA355515941 | GHSR | c.244C>A (p.Leu82Met) | |
3 | g.172448171G>A | CA436965467 | GHSR | c.243C>T (p.Tyr81=) | ClinVar gnomAD v4 |
3 | g.172448171G>C | CA355515944 | GHSR | c.243C>G (p.Tyr81Ter) | |
3 | g.172448171G>T | CA355515946 | GHSR | c.243C>A (p.Tyr81Ter) | gnomAD v4 |
3 | g.172448172T>A | CA355515952 | GHSR | c.242A>T (p.Tyr81Phe) | |
3 | g.172448172T>C | CA355515951 | GHSR | c.242A>G (p.Tyr81Cys) | gnomAD v4 |
3 | g.172448172T>G | CA355515949 | GHSR | c.242A>C (p.Tyr81Ser) | |
3 | g.172448173A>C | CA355515955 | GHSR | c.241T>G (p.Tyr81Asp) | |
3 | g.172448173A>G | CA355515958 | GHSR | c.241T>C (p.Tyr81His) | gnomAD v4 |
3 | g.172448173A>T | CA355515957 | GHSR | c.241T>A (p.Tyr81Asn) | |
3 | g.172448174G>A | CA436965471 | GHSR | c.240C>T (p.Leu80=) | |
3 | g.172448174G>C | CA436965472 | GHSR | c.240C>G (p.Leu80=) | |
3 | g.172448174G>T | CA436965473 | GHSR | c.240C>A (p.Leu80=) | |
3 | g.172448175A= | CA1420511800 | GHSR | c.239T= (p.Leu80=) | |
3 | g.172448175A>C | CA355515962 | GHSR | c.239T>G (p.Leu80Arg) | |
3 | g.172448175A>G | CA355515967 | GHSR | c.239T>C (p.Leu80Pro) | |
3 | g.172448175A>T | CA355515964 | GHSR | c.239T>A (p.Leu80His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448176G>A | CA355515970 | GHSR | c.238C>T (p.Leu80Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448176G>C | CA355515972 | GHSR | c.238C>G (p.Leu80Val) | ClinVar |
3 | g.172448176G= | CA1420511801 | GHSR | c.238C= (p.Leu80=) | |
3 | g.172448176G>T | CA355515974 | GHSR | c.238C>A (p.Leu80Ile) | |
3 | g.172448177G>A | CA436965477 | GHSR | c.237C>T (p.Asn79=) | |
3 | g.172448177G>C | CA355515978 | GHSR | c.237C>G (p.Asn79Lys) | |
3 | g.172448177G>T | CA355515980 | GHSR | c.237C>A (p.Asn79Lys) | |
3 | g.172448178T>A | CA355515982 | GHSR | c.236A>T (p.Asn79Ile) | gnomAD v4 |
3 | g.172448178T>C | CA2706501 | GHSR | c.236A>G (p.Asn79Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.172448178T>G | CA355515983 | GHSR | c.236A>C (p.Asn79Thr) | |
3 | g.172448178T= | CA1420511802 | GHSR | c.236A= (p.Asn79=) | |
3 | g.172448179T>A | CA355515984 | GHSR | c.235A>T (p.Asn79Tyr) | |
3 | g.172448179T>C | CA355515985 | GHSR | c.235A>G (p.Asn79Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448179T>G | CA355515986 | GHSR | c.235A>C (p.Asn79His) | gnomAD v4 |
3 | g.172448179T= | CA1420511803 | GHSR | c.235A= (p.Asn79=) | |
3 | g.172448180G>A | CA436965483 | GHSR | c.234C>T (p.Thr78=) | |
3 | g.172448180G>C | CA436965482 | GHSR | c.234C>G (p.Thr78=) |