Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.186130048C>A | CA1294516 | HMCN1 | c.12987C>A (p.Thr4329=) c.12702C>A (p.Thr4234=) c.11010C>A (p.Thr3670=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186130048C= | CA1140614740 | HMCN1 | c.12987C= (p.Thr4329=) c.12702C= (p.Thr4234=) c.11010C= (p.Thr3670=) | |
1 | g.186130048C>G | CA422330591 | HMCN1 | c.12987C>G (p.Thr4329=) c.12702C>G (p.Thr4234=) c.11010C>G (p.Thr3670=) | |
1 | g.186130048C>T | CA1294515 | HMCN1 | c.12987C>T (p.Thr4329=) c.12702C>T (p.Thr4234=) c.11010C>T (p.Thr3670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186130049G>A | CA1294517 | HMCN1 | c.12988G>A (p.Ala4330Thr) c.12703G>A (p.Ala4235Thr) c.11011G>A (p.Ala3671Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186130049G>C | CA343907158 | HMCN1 | c.12988G>C (p.Ala4330Pro) c.12703G>C (p.Ala4235Pro) c.11011G>C (p.Ala3671Pro) | |
1 | g.186130049G= | CA1143508978 | HMCN1 | c.12988G= (p.Ala4330=) c.12703G= (p.Ala4235=) c.11011G= (p.Ala3671=) | |
1 | g.186130049G>T | CA343907156 | HMCN1 | c.12988G>T (p.Ala4330Ser) c.12703G>T (p.Ala4235Ser) c.11011G>T (p.Ala3671Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186130050C>A | CA343907165 | HMCN1 | c.12989C>A (p.Ala4330Glu) c.12704C>A (p.Ala4235Glu) c.11012C>A (p.Ala3671Glu) | |
1 | g.186130050C>G | CA343907161 | HMCN1 | c.12989C>G (p.Ala4330Gly) c.12704C>G (p.Ala4235Gly) c.11012C>G (p.Ala3671Gly) | |
1 | g.186130050C>T | CA343907163 | HMCN1 | c.12989C>T (p.Ala4330Val) c.12704C>T (p.Ala4235Val) c.11012C>T (p.Ala3671Val) | ClinVar gnomAD v4 |
1 | g.186130051A>C | CA422330592 | HMCN1 | c.12990A>C (p.Ala4330=) c.12705A>C (p.Ala4235=) c.11013A>C (p.Ala3671=) | |
1 | g.186130051A>G | CA422330593 | HMCN1 | c.12990A>G (p.Ala4330=) c.12705A>G (p.Ala4235=) c.11013A>G (p.Ala3671=) | |
1 | g.186130051A>T | CA422330594 | HMCN1 | c.12990A>T (p.Ala4330=) c.12705A>T (p.Ala4235=) c.11013A>T (p.Ala3671=) | |
1 | g.186130052G>A | CA343907167 | HMCN1 | c.12991G>A (p.Glu4331Lys) c.12706G>A (p.Glu4236Lys) c.11014G>A (p.Glu3672Lys) | |
1 | g.186130052G>C | CA343907169 | HMCN1 | c.12991G>C (p.Glu4331Gln) c.12706G>C (p.Glu4236Gln) c.11014G>C (p.Glu3672Gln) | |
1 | g.186130052G>T | CA343907171 | HMCN1 | c.12991G>T (p.Glu4331Ter) c.12706G>T (p.Glu4236Ter) c.11014G>T (p.Glu3672Ter) | |
1 | g.186130053A>C | CA343907173 | HMCN1 | c.12992A>C (p.Glu4331Ala) c.12707A>C (p.Glu4236Ala) c.11015A>C (p.Glu3672Ala) | |
1 | g.186130053A>G | CA343907175 | HMCN1 | c.12992A>G (p.Glu4331Gly) c.12707A>G (p.Glu4236Gly) c.11015A>G (p.Glu3672Gly) | gnomAD v4 |
1 | g.186130053A>T | CA343907177 | HMCN1 | c.12992A>T (p.Glu4331Val) c.12707A>T (p.Glu4236Val) c.11015A>T (p.Glu3672Val) | |
1 | g.186130054G>A | CA422330595 | HMCN1 | c.12993G>A (p.Glu4331=) c.12708G>A (p.Glu4236=) c.11016G>A (p.Glu3672=) | |
1 | g.186130054G>C | CA343907179 | HMCN1 | c.12993G>C (p.Glu4331Asp) c.12708G>C (p.Glu4236Asp) c.11016G>C (p.Glu3672Asp) | |
1 | g.186130054G>T | CA343907181 | HMCN1 | c.12993G>T (p.Glu4331Asp) c.12708G>T (p.Glu4236Asp) c.11016G>T (p.Glu3672Asp) | |
1 | g.186130055A>C | CA343907183 | HMCN1 | c.12994A>C (p.Asn4332His) c.12709A>C (p.Asn4237His) c.11017A>C (p.Asn3673His) | |
1 | g.186130055A>G | CA343907185 | HMCN1 | c.12994A>G (p.Asn4332Asp) c.12709A>G (p.Asn4237Asp) c.11017A>G (p.Asn3673Asp) | |
1 | g.186130055A>T | CA343907187 | HMCN1 | c.12994A>T (p.Asn4332Tyr) c.12709A>T (p.Asn4237Tyr) c.11017A>T (p.Asn3673Tyr) | |
1 | g.186130056A>C | CA343907193 | HMCN1 | c.12995A>C (p.Asn4332Thr) c.12710A>C (p.Asn4237Thr) c.11018A>C (p.Asn3673Thr) | |
1 | g.186130056A>G | CA343907191 | HMCN1 | c.12995A>G (p.Asn4332Ser) c.12710A>G (p.Asn4237Ser) c.11018A>G (p.Asn3673Ser) | |
1 | g.186130056A>T | CA343907189 | HMCN1 | c.12995A>T (p.Asn4332Ile) c.12710A>T (p.Asn4237Ile) c.11018A>T (p.Asn3673Ile) | |
1 | g.186130057C>A | CA343907195 | HMCN1 | c.12996C>A (p.Asn4332Lys) c.12711C>A (p.Asn4237Lys) c.11019C>A (p.Asn3673Lys) | |
1 | g.186130057C>G | CA343907197 | HMCN1 | c.12996C>G (p.Asn4332Lys) c.12711C>G (p.Asn4237Lys) c.11019C>G (p.Asn3673Lys) | gnomAD v4 |
1 | g.186130057C>T | CA422330596 | HMCN1 | c.12996C>T (p.Asn4332=) c.12711C>T (p.Asn4237=) c.11019C>T (p.Asn3673=) | gnomAD v4 |
1 | g.186130058A>C | CA343907199 | HMCN1 | c.12997A>C (p.Ser4333Arg) c.12712A>C (p.Ser4238Arg) c.11020A>C (p.Ser3674Arg) | |
1 | g.186130058A>G | CA343907201 | HMCN1 | c.12997A>G (p.Ser4333Gly) c.12712A>G (p.Ser4238Gly) c.11020A>G (p.Ser3674Gly) | |
1 | g.186130058A>T | CA343907203 | HMCN1 | c.12997A>T (p.Ser4333Cys) c.12712A>T (p.Ser4238Cys) c.11020A>T (p.Ser3674Cys) | |
1 | g.186130059G>A | CA343907205 | HMCN1 | c.12998G>A (p.Ser4333Asn) c.12713G>A (p.Ser4238Asn) c.11021G>A (p.Ser3674Asn) | |
1 | g.186130059G>C | CA343907207 | HMCN1 | c.12998G>C (p.Ser4333Thr) c.12713G>C (p.Ser4238Thr) c.11021G>C (p.Ser3674Thr) | |
1 | g.186130059G>T | CA343907209 | HMCN1 | c.12998G>T (p.Ser4333Ile) c.12713G>T (p.Ser4238Ile) c.11021G>T (p.Ser3674Ile) | |
1 | g.186130060C>A | CA343907211 | HMCN1 | c.12999C>A (p.Ser4333Arg) c.12714C>A (p.Ser4238Arg) c.11022C>A (p.Ser3674Arg) | gnomAD v4 |
1 | g.186130060C= | CA1213008769 | HMCN1 | c.12999C= (p.Ser4333=) c.12714C= (p.Ser4238=) c.11022C= (p.Ser3674=) | |
1 | g.186130060C>G | CA343907213 | HMCN1 | c.12999C>G (p.Ser4333Arg) c.12714C>G (p.Ser4238Arg) c.11022C>G (p.Ser3674Arg) | |
1 | g.186130060C>T | CA1294518 | HMCN1 | c.12999C>T (p.Ser4333=) c.12714C>T (p.Ser4238=) c.11022C>T (p.Ser3674=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186130061G>A | CA343907215 | HMCN1 | c.13000G>A (p.Val4334Ile) c.12715G>A (p.Val4239Ile) c.11023G>A (p.Val3675Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186130061G>C | CA343907216 | HMCN1 | c.13000G>C (p.Val4334Leu) c.12715G>C (p.Val4239Leu) c.11023G>C (p.Val3675Leu) | |
1 | g.186130061G= | CA1213008770 | HMCN1 | c.13000G= (p.Val4334=) c.12715G= (p.Val4239=) c.11023G= (p.Val3675=) | |
1 | g.186130061G>T | CA343907218 | HMCN1 | c.13000G>T (p.Val4334Phe) c.12715G>T (p.Val4239Phe) c.11023G>T (p.Val3675Phe) | gnomAD v4 |
1 | g.186130062T>A | CA343907222 | HMCN1 | c.13001T>A (p.Val4334Asp) c.12716T>A (p.Val4239Asp) c.11024T>A (p.Val3675Asp) | |
1 | g.186130062T>C | CA1294519 | HMCN1 | c.13001T>C (p.Val4334Ala) c.12716T>C (p.Val4239Ala) c.11024T>C (p.Val3675Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186130062T>G | CA343907220 | HMCN1 | c.13001T>G (p.Val4334Gly) c.12716T>G (p.Val4239Gly) c.11024T>G (p.Val3675Gly) | |
1 | g.186130062T= | CA1213008771 | HMCN1 | c.13001T= (p.Val4334=) c.12716T= (p.Val4239=) c.11024T= (p.Val3675=) |