Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122254231_122254237del | CA2740094554 | CASR | c.42_48del (p.Trp15ProfsTer28) | ClinVar |
3 | g.122254230C>A | CA354362004 | CASR | c.41C>A (p.Thr14Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254230C= | CA1397855893 | CASR | c.41C= (p.Thr14=) | |
3 | g.122254230C>G | CA354362005 | CASR | c.41C>G (p.Thr14Ser) | |
3 | g.122254230C>T | CA354362006 | CASR | c.41C>T (p.Thr14Ile) | ClinVar dbSNP |
3 | g.122254231C>A | CA435403824 | CASR | c.42C>A (p.Thr14=) | |
3 | g.122254231C>G | CA435403826 | CASR | c.42C>G (p.Thr14=) | |
3 | g.122254231C>T | CA435403825 | CASR | c.42C>T (p.Thr14=) | ClinVar dbSNP |
3 | g.122254232T>A | CA354362007 | CASR | c.43T>A (p.Trp15Arg) | |
3 | g.122254232T>C | CA354362009 | CASR | c.43T>C (p.Trp15Arg) | |
3 | g.122254232T>G | CA354362008 | CASR | c.43T>G (p.Trp15Gly) | |
3 | g.122254233G>A | CA354362010 | CASR | c.44G>A (p.Trp15Ter) | |
3 | g.122254233G>C | CA354362011 | CASR | c.44G>C (p.Trp15Ser) | |
3 | g.122254233G>T | CA354362012 | CASR | c.44G>T (p.Trp15Leu) | |
3 | g.122254234G>A | CA354362013 | CASR | c.45G>A (p.Trp15Ter) | gnomAD v4 COSMIC |
3 | g.122254234G>C | CA354362014 | CASR | c.45G>C (p.Trp15Cys) | |
3 | g.122254234G>T | CA354362015 | CASR | c.45G>T (p.Trp15Cys) | |
3 | g.122254235C>A | CA354362016 | CASR | c.46C>A (p.His16Asn) | |
3 | g.122254235C= | CA1397855896 | CASR | c.46C= (p.His16=) | |
3 | g.122254235C>G | CA354362017 | CASR | c.46C>G (p.His16Asp) | gnomAD v4 |
3 | g.122254235C>T | CA2569407 | CASR | c.46C>T (p.His16Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254236A>C | CA354362018 | CASR | c.47A>C (p.His16Pro) | |
3 | g.122254236A>G | CA354362019 | CASR | c.47A>G (p.His16Arg) | gnomAD v4 |
3 | g.122254236A>T | CA354362020 | CASR | c.47A>T (p.His16Leu) | |
3 | g.122254237C>A | CA354362021 | CASR | c.48C>A (p.His16Gln) | |
3 | g.122254237C= | CA1397855898 | CASR | c.48C= (p.His16=) | |
3 | g.122254237C>G | CA354362022 | CASR | c.48C>G (p.His16Gln) | |
3 | g.122254237C>T | CA2569408 | CASR | c.48C>T (p.His16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254238A>C | CA354362023 | CASR | c.49A>C (p.Thr17Pro) | |
3 | g.122254238A>G | CA354362024 | CASR | c.49A>G (p.Thr17Ala) | |
3 | g.122254238A>T | CA354362025 | CASR | c.49A>T (p.Thr17Ser) | |
3 | g.122254239C>A | CA354362026 | CASR | c.50C>A (p.Thr17Asn) | |
3 | g.122254239C= | CA1397855903 | CASR | c.50C= (p.Thr17=) | |
3 | g.122254239C>G | CA354362027 | CASR | c.50C>G (p.Thr17Ser) | |
3 | g.122254239C>T | CA354362028 | CASR | c.50C>T (p.Thr17Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.122254240C>A | CA435403829 | CASR | c.51C>A (p.Thr17=) | |
3 | g.122254240C= | CA1397855905 | CASR | c.51C= (p.Thr17=) | |
3 | g.122254240C>G | CA435403830 | CASR | c.51C>G (p.Thr17=) | |
3 | g.122254240C>T | CA435403831 | CASR | c.51C>T (p.Thr17=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254241T>A | CA354362029 | CASR | c.52T>A (p.Ser18Thr) | |
3 | g.122254241T>C | CA354362030 | CASR | c.52T>C (p.Ser18Pro) | |
3 | g.122254241T>G | CA354362031 | CASR | c.52T>G (p.Ser18Ala) | |
3 | g.122254242C>A | CA354362032 | CASR | c.53C>A (p.Ser18Tyr) | |
3 | g.122254242C= | CA1397855911 | CASR | c.53C= (p.Ser18=) | |
3 | g.122254242C>G | CA354362033 | CASR | c.53C>G (p.Ser18Cys) | |
3 | g.122254242C>T | CA2569409 | CASR | c.53C>T (p.Ser18Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254243T>A | CA2569411 | CASR | c.54T>A (p.Ser18=) | dbSNP ExAC gnomAD v2 |
3 | g.122254243T>C | CA435403833 | CASR | c.54T>C (p.Ser18=) | |
3 | g.122254243T>G | CA2569410 | CASR | c.54T>G (p.Ser18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254243T= | CA1397855918 | CASR | c.54T= (p.Ser18=) |