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 |
|---|---|---|---|---|---|
| 5 | g.97014919C>A | CA2674699025 | LNPEP | c.2220-20C>A (n.2220-20C>A) c.2178-20C>A (n.2178-20C>A) | gnomAD v4 |
| 5 | g.97014919C>T | CA2674699024 | LNPEP | c.2220-20C>T (n.2220-20C>T) c.2178-20C>T (n.2178-20C>T) | gnomAD v4 |
| 5 | g.97014920C>A | CA2674699026 | LNPEP | c.2220-19C>A (n.2220-19C>A) c.2178-19C>A (n.2178-19C>A) | gnomAD v4 |
| 5 | g.97014920C>T | CA2578369009 | LNPEP | c.2220-19C>T (n.2220-19C>T) c.2178-19C>T (n.2178-19C>T) | gnomAD v4 |
| 5 | g.97014921T>C | CA2674699027 | LNPEP | c.2220-18T>C (n.2220-18T>C) c.2178-18T>C (n.2178-18T>C) | gnomAD v4 |
| 5 | g.97014922_97014923del | CA2578369010 | LNPEP | c.2220-17_2220-16del (n.2220-17_2220-16del) c.2178-17_2178-16del (n.2178-17_2178-16del) | |
| 5 | g.97014922G>A | CA3354199 | LNPEP | c.2220-17G>A (n.2220-17G>A) c.2178-17G>A (n.2178-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014922G>C | CA2767568768 | LNPEP | c.2220-17G>C (n.2220-17G>C) c.2178-17G>C (n.2178-17G>C) | |
| 5 | g.97014922G= | CA1565681219 | LNPEP | c.2220-17G= (n.2220-17G=) c.2178-17G= (n.2178-17G=) | |
| 5 | g.97014922G>T | CA2674699028 | LNPEP | c.2220-17G>T (n.2220-17G>T) c.2178-17G>T (n.2178-17G>T) | gnomAD v4 |
| 5 | g.97014923T>C | CA2674699029 | LNPEP | c.2220-16T>C (n.2220-16T>C) c.2178-16T>C (n.2178-16T>C) | gnomAD v4 |
| 5 | g.97014924T>C | CA1565681221 | LNPEP | c.2220-15T>C (n.2220-15T>C) c.2178-15T>C (n.2178-15T>C) | dbSNP gnomAD v4 |
| 5 | g.97014924T= | CA1565681220 | LNPEP | c.2220-15T= (n.2220-15T=) c.2178-15T= (n.2178-15T=) | |
| 5 | g.97014925C>A | CA2674699030 | LNPEP | c.2220-14C>A (n.2220-14C>A) c.2178-14C>A (n.2178-14C>A) | gnomAD v4 |
| 5 | g.97014926T>C | CA2674699032 | LNPEP | c.2220-13T>C (n.2220-13T>C) c.2178-13T>C (n.2178-13T>C) | gnomAD v4 |
| 5 | g.97014929del | CA2674699031 | LNPEP | c.2220-10del (n.2220-10del) c.2178-10del (n.2178-10del) | gnomAD v4 |
| 5 | g.97014927T>C | CA2578369011 | LNPEP | c.2220-12T>C (n.2220-12T>C) c.2178-12T>C (n.2178-12T>C) | |
| 5 | g.97014928T>C | CA2674699033 | LNPEP | c.2220-11T>C (n.2220-11T>C) c.2178-11T>C (n.2178-11T>C) | gnomAD v4 |
| 5 | g.97014929T>C | CA2674699034 | LNPEP | c.2220-10T>C (n.2220-10T>C) c.2178-10T>C (n.2178-10T>C) | gnomAD v4 |
| 5 | g.97014930A>G | CA2767568769 | LNPEP | c.2220-9A>G (n.2220-9A>G) c.2178-9A>G (n.2178-9A>G) | |
| 5 | g.97014930A>T | CA2767568770 | LNPEP | c.2220-9A>T (n.2220-9A>T) c.2178-9A>T (n.2178-9A>T) | |
| 5 | g.97014931T>C | CA2674699035 | LNPEP | c.2220-8T>C (n.2220-8T>C) c.2178-8T>C (n.2178-8T>C) | gnomAD v4 |
| 5 | g.97014932C>A | CA2674699036 | LNPEP | c.2220-7C>A (n.2220-7C>A) c.2178-7C>A (n.2178-7C>A) | gnomAD v4 |
| 5 | g.97014932C>G | CA2740663049 | LNPEP | c.2220-7C>G (n.2220-7C>G) c.2178-7C>G (n.2178-7C>G) | |
| 5 | g.97014933C>A | CA2674699039 | LNPEP | c.2220-6C>A (n.2220-6C>A) c.2178-6C>A (n.2178-6C>A) | gnomAD v4 |
| 5 | g.97014933C>G | CA2674699038 | LNPEP | c.2220-6C>G (n.2220-6C>G) c.2178-6C>G (n.2178-6C>G) | gnomAD v4 |
| 5 | g.97014933C>T | CA2674699037 | LNPEP | c.2220-6C>T (n.2220-6C>T) c.2178-6C>T (n.2178-6C>T) | gnomAD v4 |
| 5 | g.97014934T>C | CA2674699040 | LNPEP | c.2220-5T>C (n.2220-5T>C) c.2178-5T>C (n.2178-5T>C) | gnomAD v4 |
| 5 | g.97014935T>C | CA2674699041 | LNPEP | c.2220-4T>C (n.2220-4T>C) c.2178-4T>C (n.2178-4T>C) | gnomAD v4 |
| 5 | g.97014936T>C | CA2674699042 | LNPEP | c.2220-3T>C (n.2220-3T>C) c.2178-3T>C (n.2178-3T>C) | gnomAD v4 |
| 5 | g.97014937A>C | CA360507772 | LNPEP | c.2220-2A>C (n.2220-2A>C) c.2178-2A>C (n.2178-2A>C) | |
| 5 | g.97014937A>G | CA360507773 | LNPEP | c.2220-2A>G (n.2220-2A>G) c.2178-2A>G (n.2178-2A>G) | gnomAD v4 COSMIC |
| 5 | g.97014937A>T | CA360507775 | LNPEP | c.2220-2A>T (n.2220-2A>T) c.2178-2A>T (n.2178-2A>T) | |
| 5 | g.97014938G>A | CA360507784 | LNPEP | c.2220-1G>A (n.2220-1G>A) c.2178-1G>A (n.2178-1G>A) | |
| 5 | g.97014938G>C | CA360507786 | LNPEP | c.2220-1G>C (n.2220-1G>C) c.2178-1G>C (n.2178-1G>C) | |
| 5 | g.97014938G>T | CA360507787 | LNPEP | c.2220-1G>T (n.2220-1G>T) c.2178-1G>T (n.2178-1G>T) | gnomAD v4 |
| 5 | g.97014939C>A | CA445517977 | LNPEP | c.2220C>A (p.Gly740=) c.2178C>A (p.Gly726=) | gnomAD v4 |
| 5 | g.97014939C>G | CA445517978 | LNPEP | c.2220C>G (p.Gly740=) c.2178C>G (p.Gly726=) | |
| 5 | g.97014939C>T | CA445517980 | LNPEP | c.2220C>T (p.Gly740=) c.2178C>T (p.Gly726=) | gnomAD v4 |
| 5 | g.97014940C>A | CA360507790 | LNPEP | c.2221C>A (p.Leu741Ile) c.2179C>A (p.Leu727Ile) | gnomAD v4 |
| 5 | g.97014940C>G | CA360507791 | LNPEP | c.2221C>G (p.Leu741Val) c.2179C>G (p.Leu727Val) | |
| 5 | g.97014940C>T | CA445517982 | LNPEP | c.2221C>T (p.Leu741=) c.2179C>T (p.Leu727=) | gnomAD v4 |
| 5 | g.97014941T>A | CA360507793 | LNPEP | c.2222T>A (p.Leu741Gln) c.2180T>A (p.Leu727Gln) | |
| 5 | g.97014941T>C | CA360507794 | LNPEP | c.2222T>C (p.Leu741Pro) c.2180T>C (p.Leu727Pro) | gnomAD v4 COSMIC |
| 5 | g.97014941T>G | CA3354200 | LNPEP | c.2222T>G (p.Leu741Arg) c.2180T>G (p.Leu727Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014941T= | CA1565681222 | LNPEP | c.2222T= (p.Leu741=) c.2180T= (p.Leu727=) | |
| 5 | g.97014942del | CA2674699043 | LNPEP | c.2223del (p.Gly742AlafsTer11) c.2181del (p.Gly728AlafsTer11) | gnomAD v4 |
| 5 | g.97014942A>C | CA445517987 | LNPEP | c.2223A>C (p.Leu741=) c.2181A>C (p.Leu727=) | |
| 5 | g.97014942A>G | CA445517989 | LNPEP | c.2223A>G (p.Leu741=) c.2181A>G (p.Leu727=) | |
| 5 | g.97014942A>T | CA445517991 | LNPEP | c.2223A>T (p.Leu741=) c.2181A>T (p.Leu727=) | |
| 5 | g.97014943G>A | CA360507799 | LNPEP | c.2224G>A (p.Gly742Ser) c.2182G>A (p.Gly728Ser) | |
| 5 | g.97014943G>C | CA360507800 | LNPEP | c.2224G>C (p.Gly742Arg) c.2182G>C (p.Gly728Arg) | |
| 5 | g.97014943G>T | CA360507797 | LNPEP | c.2224G>T (p.Gly742Cys) c.2182G>T (p.Gly728Cys) | gnomAD v4 |
| 5 | g.97014944G>A | CA360507802 | LNPEP | c.2225G>A (p.Gly742Asp) c.2183G>A (p.Gly728Asp) | |
| 5 | g.97014944G>C | CA360507804 | LNPEP | c.2225G>C (p.Gly742Ala) c.2183G>C (p.Gly728Ala) | |
| 5 | g.97014944G>T | CA360507807 | LNPEP | c.2225G>T (p.Gly742Val) c.2183G>T (p.Gly728Val) | gnomAD v4 |
| 5 | g.97014945C>A | CA445517997 | LNPEP | c.2226C>A (p.Gly742=) c.2184C>A (p.Gly728=) | gnomAD v4 |
| 5 | g.97014945C>G | CA445517999 | LNPEP | c.2226C>G (p.Gly742=) c.2184C>G (p.Gly728=) | |
| 5 | g.97014945C>T | CA445518001 | LNPEP | c.2226C>T (p.Gly742=) c.2184C>T (p.Gly728=) | gnomAD v4 |
| 5 | g.97014946A>C | CA360507809 | LNPEP | c.2227A>C (p.Lys743Gln) c.2185A>C (p.Lys729Gln) | |
| 5 | g.97014946A>G | CA360507810 | LNPEP | c.2227A>G (p.Lys743Glu) c.2185A>G (p.Lys729Glu) | |
| 5 | g.97014946A>T | CA360507811 | LNPEP | c.2227A>T (p.Lys743Ter) c.2185A>T (p.Lys729Ter) | |
| 5 | g.97014947A>C | CA360507812 | LNPEP | c.2228A>C (p.Lys743Thr) c.2186A>C (p.Lys729Thr) | |
| 5 | g.97014947A>G | CA360507814 | LNPEP | c.2228A>G (p.Lys743Arg) c.2186A>G (p.Lys729Arg) | gnomAD v4 |
| 5 | g.97014947A>T | CA360507816 | LNPEP | c.2228A>T (p.Lys743Met) c.2186A>T (p.Lys729Met) | |
| 5 | g.97014948G>A | CA3354201 | LNPEP | c.2229G>A (p.Lys743=) c.2187G>A (p.Lys729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97014948G>C | CA360507818 | LNPEP | c.2229G>C (p.Lys743Asn) c.2187G>C (p.Lys729Asn) | |
| 5 | g.97014948G= | CA1565681223 | LNPEP | c.2229G= (p.Lys743=) c.2187G= (p.Lys729=) | |
| 5 | g.97014948G>T | CA360507820 | LNPEP | c.2229G>T (p.Lys743Asn) c.2187G>T (p.Lys729Asn) | gnomAD v4 |
| 5 | g.97014949G>A | CA3354203 | LNPEP | c.2230G>A (p.Val744Ile) c.2188G>A (p.Val730Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014949G>C | CA360507821 | LNPEP | c.2230G>C (p.Val744Leu) c.2188G>C (p.Val730Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014949G= | CA1565681224 | LNPEP | c.2230G= (p.Val744=) c.2188G= (p.Val730=) | |
| 5 | g.97014949G>T | CA3354202 | LNPEP | c.2230G>T (p.Val744Leu) c.2188G>T (p.Val730Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014950T>A | CA360507824 | LNPEP | c.2231T>A (p.Val744Glu) c.2189T>A (p.Val730Glu) | |
| 5 | g.97014950T>C | CA360507825 | LNPEP | c.2231T>C (p.Val744Ala) c.2189T>C (p.Val730Ala) | gnomAD v4 |
| 5 | g.97014950T>G | CA360507827 | LNPEP | c.2231T>G (p.Val744Gly) c.2189T>G (p.Val730Gly) | |
| 5 | g.97014951A= | CA1565681226 | LNPEP | c.2232A= (p.Val744=) c.2190A= (p.Val730=) | |
| 5 | g.97014951A>C | CA445518020 | LNPEP | c.2232A>C (p.Val744=) c.2190A>C (p.Val730=) | |
| 5 | g.97014951A>G | CA3354204 | LNPEP | c.2232A>G (p.Val744=) c.2190A>G (p.Val730=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014951A>T | CA445518022 | LNPEP | c.2232A>T (p.Val744=) c.2190A>T (p.Val730=) | |
| 5 | g.97014951_97014952delinsAC | CA1565681225 | LNPEP | c.2232_2233delinsAC (p.Val744=) c.2190_2191delinsAC (p.Val730=) | |
| 5 | g.97014952C>A | CA360507832 | LNPEP | c.2233C>A (p.Pro745Thr) c.2191C>A (p.Pro731Thr) | gnomAD v4 |
| 5 | g.97014952C= | CA1565681228 | LNPEP | c.2233C= (p.Pro745=) c.2191C= (p.Pro731=) | |
| 5 | g.97014952C>G | CA360507833 | LNPEP | c.2233C>G (p.Pro745Ala) c.2191C>G (p.Pro731Ala) | |
| 5 | g.97014952C>T | CA3354205 | LNPEP | c.2233C>T (p.Pro745Ser) c.2191C>T (p.Pro731Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014953del | CA1565681227 | LNPEP | c.2234del (p.Pro745LeufsTer8) c.2192del (p.Pro731LeufsTer8) | dbSNP |
| 5 | g.97014953C>A | CA360507835 | LNPEP | c.2234C>A (p.Pro745His) c.2192C>A (p.Pro731His) | gnomAD v4 |
| 5 | g.97014953C>G | CA360507836 | LNPEP | c.2234C>G (p.Pro745Arg) c.2192C>G (p.Pro731Arg) | |
| 5 | g.97014953C>T | CA360507837 | LNPEP | c.2234C>T (p.Pro745Leu) c.2192C>T (p.Pro731Leu) | gnomAD v4 |
| 5 | g.97014954T>A | CA445518033 | LNPEP | c.2235T>A (p.Pro745=) c.2193T>A (p.Pro731=) | gnomAD v4 |
| 5 | g.97014954T>C | CA445518035 | LNPEP | c.2235T>C (p.Pro745=) c.2193T>C (p.Pro731=) | gnomAD v4 |
| 5 | g.97014954T>G | CA445518037 | LNPEP | c.2235T>G (p.Pro745=) c.2193T>G (p.Pro731=) | |
| 5 | g.97014955C>A | CA360507840 | LNPEP | c.2236C>A (p.Leu746Ile) c.2194C>A (p.Leu732Ile) | gnomAD v4 |
| 5 | g.97014955C>G | CA360507842 | LNPEP | c.2236C>G (p.Leu746Val) c.2194C>G (p.Leu732Val) | |
| 5 | g.97014955C>T | CA360507843 | LNPEP | c.2236C>T (p.Leu746Phe) c.2194C>T (p.Leu732Phe) | |
| 5 | g.97014956T>A | CA360507848 | LNPEP | c.2237T>A (p.Leu746His) c.2195T>A (p.Leu732His) | |
| 5 | g.97014956T>C | CA360507849 | LNPEP | c.2237T>C (p.Leu746Pro) c.2195T>C (p.Leu732Pro) | gnomAD v4 |
| 5 | g.97014956T>G | CA360507846 | LNPEP | c.2237T>G (p.Leu746Arg) c.2195T>G (p.Leu732Arg) | |
| 5 | g.97014957C>A | CA445518044 | LNPEP | c.2238C>A (p.Leu746=) c.2196C>A (p.Leu732=) | gnomAD v4 |
| 5 | g.97014957C>G | CA445518046 | LNPEP | c.2238C>G (p.Leu746=) c.2196C>G (p.Leu732=) | |
| 5 | g.97014957C>T | CA445518048 | LNPEP | c.2238C>T (p.Leu746=) c.2196C>T (p.Leu732=) | |
| 5 | g.97014958A>C | CA360507853 | LNPEP | c.2239A>C (p.Lys747Gln) c.2197A>C (p.Lys733Gln) | |
| 5 | g.97014958A>G | CA360507850 | LNPEP | c.2239A>G (p.Lys747Glu) c.2197A>G (p.Lys733Glu) | gnomAD v4 |
| 5 | g.97014958A>T | CA360507852 | LNPEP | c.2239A>T (p.Lys747Ter) c.2197A>T (p.Lys733Ter) | |
| 5 | g.97014959del | CA2674699044 | LNPEP | c.2240del (p.Lys747ArgfsTer6) c.2198del (p.Lys733ArgfsTer6) | gnomAD v4 |
| 5 | g.97014959A>C | CA360507855 | LNPEP | c.2240A>C (p.Lys747Thr) c.2198A>C (p.Lys733Thr) | |
| 5 | g.97014959A>G | CA360507856 | LNPEP | c.2240A>G (p.Lys747Arg) c.2198A>G (p.Lys733Arg) | gnomAD v4 |
| 5 | g.97014959A>T | CA360507857 | LNPEP | c.2240A>T (p.Lys747Met) c.2198A>T (p.Lys733Met) | |
| 5 | g.97014960G>A | CA445518056 | LNPEP | c.2241G>A (p.Lys747=) c.2199G>A (p.Lys733=) | gnomAD v4 |
| 5 | g.97014960G>C | CA360507859 | LNPEP | c.2241G>C (p.Lys747Asn) c.2199G>C (p.Lys733Asn) | |
| 5 | g.97014960G>T | CA360507861 | LNPEP | c.2241G>T (p.Lys747Asn) c.2199G>T (p.Lys733Asn) | |
| 5 | g.97014961A>C | CA445518063 | LNPEP | c.2242A>C (p.Arg748=) c.2200A>C (p.Arg734=) | |
| 5 | g.97014961A>G | CA360507862 | LNPEP | c.2242A>G (p.Arg748Gly) c.2200A>G (p.Arg734Gly) | |
| 5 | g.97014961A>T | CA360507864 | LNPEP | c.2242A>T (p.Arg748Trp) c.2200A>T (p.Arg734Trp) | |
| 5 | g.97014962G>A | CA360507865 | LNPEP | c.2243G>A (p.Arg748Lys) c.2201G>A (p.Arg734Lys) | |
| 5 | g.97014962G>C | CA360507867 | LNPEP | c.2243G>C (p.Arg748Thr) c.2201G>C (p.Arg734Thr) | gnomAD v4 |
| 5 | g.97014962G>T | CA360507869 | LNPEP | c.2243G>T (p.Arg748Met) c.2201G>T (p.Arg734Met) | gnomAD v4 |
| 5 | g.97014963G>A | CA445518068 | LNPEP | c.2244G>A (p.Arg748=) c.2202G>A (p.Arg734=) | |
| 5 | g.97014963G>C | CA360507870 | LNPEP | c.2244G>C (p.Arg748Ser) c.2202G>C (p.Arg734Ser) | |
| 5 | g.97014963G>T | CA360507872 | LNPEP | c.2244G>T (p.Arg748Ser) c.2202G>T (p.Arg734Ser) | |
| 5 | g.97014964G>A | CA360507873 | LNPEP | c.2245G>A (p.Ala749Thr) c.2203G>A (p.Ala735Thr) | gnomAD v4 |
| 5 | g.97014964G>C | CA360507876 | LNPEP | c.2245G>C (p.Ala749Pro) c.2203G>C (p.Ala735Pro) | |
| 5 | g.97014964G>T | CA360507874 | LNPEP | c.2245G>T (p.Ala749Ser) c.2203G>T (p.Ala735Ser) | gnomAD v4 |
| 5 | g.97014965C>A | CA360507878 | LNPEP | c.2246C>A (p.Ala749Asp) c.2204C>A (p.Ala735Asp) | gnomAD v4 |
| 5 | g.97014965C>G | CA360507880 | LNPEP | c.2246C>G (p.Ala749Gly) c.2204C>G (p.Ala735Gly) | |
| 5 | g.97014965C>T | CA360507881 | LNPEP | c.2246C>T (p.Ala749Val) c.2204C>T (p.Ala735Val) | gnomAD v4 COSMIC |
| 5 | g.97014966C>A | CA445518077 | LNPEP | c.2247C>A (p.Ala749=) c.2205C>A (p.Ala735=) | gnomAD v4 |
| 5 | g.97014966C>G | CA445518079 | LNPEP | c.2247C>G (p.Ala749=) c.2205C>G (p.Ala735=) | |
| 5 | g.97014966C>T | CA445518081 | LNPEP | c.2247C>T (p.Ala749=) c.2205C>T (p.Ala735=) | gnomAD v4 |
| 5 | g.97014967T>A | CA360507883 | LNPEP | c.2248T>A (p.Phe750Ile) c.2206T>A (p.Phe736Ile) | gnomAD v4 |
| 5 | g.97014967T>C | CA360507885 | LNPEP | c.2248T>C (p.Phe750Leu) c.2206T>C (p.Phe736Leu) | gnomAD v4 |
| 5 | g.97014967T>G | CA360507887 | LNPEP | c.2248T>G (p.Phe750Val) c.2206T>G (p.Phe736Val) | |
| 5 | g.97014968T>A | CA360507888 | LNPEP | c.2249T>A (p.Phe750Tyr) c.2207T>A (p.Phe736Tyr) | |
| 5 | g.97014968T>C | CA360507889 | LNPEP | c.2249T>C (p.Phe750Ser) c.2207T>C (p.Phe736Ser) | |
| 5 | g.97014968T>G | CA360507890 | LNPEP | c.2249T>G (p.Phe750Cys) c.2207T>G (p.Phe736Cys) | |
| 5 | g.97014969T>A | CA360507892 | LNPEP | c.2250T>A (p.Phe750Leu) c.2208T>A (p.Phe736Leu) | |
| 5 | g.97014969T>C | CA445518090 | LNPEP | c.2250T>C (p.Phe750=) c.2208T>C (p.Phe736=) | gnomAD v4 |
| 5 | g.97014969T>G | CA360507894 | LNPEP | c.2250T>G (p.Phe750Leu) c.2208T>G (p.Phe736Leu) | |
| 5 | g.97014970G>A | CA360507900 | LNPEP | c.2251G>A (p.Asp751Asn) c.2209G>A (p.Asp737Asn) | |
| 5 | g.97014970G>C | CA360507898 | LNPEP | c.2251G>C (p.Asp751His) c.2209G>C (p.Asp737His) | |
| 5 | g.97014970G>T | CA360507897 | LNPEP | c.2251G>T (p.Asp751Tyr) c.2209G>T (p.Asp737Tyr) | gnomAD v4 |
| 5 | g.97014971A>C | CA360507901 | LNPEP | c.2252A>C (p.Asp751Ala) c.2210A>C (p.Asp737Ala) | |
| 5 | g.97014971A>G | CA360507903 | LNPEP | c.2252A>G (p.Asp751Gly) c.2210A>G (p.Asp737Gly) | gnomAD v4 |
| 5 | g.97014971A>T | CA360507905 | LNPEP | c.2252A>T (p.Asp751Val) c.2210A>T (p.Asp737Val) | |
| 5 | g.97014972T>A | CA360507906 | LNPEP | c.2253T>A (p.Asp751Glu) c.2211T>A (p.Asp737Glu) | |
| 5 | g.97014972T>C | CA445518099 | LNPEP | c.2253T>C (p.Asp751=) c.2211T>C (p.Asp737=) | gnomAD v4 |
| 5 | g.97014972T>G | CA360507908 | LNPEP | c.2253T>G (p.Asp751Glu) c.2211T>G (p.Asp737Glu) | |
| 5 | g.97014974del | CA2674699045 | LNPEP | c.2255del (p.Leu752Ter) c.2213del (p.Leu738Ter) | gnomAD v4 |
| 5 | g.97014973T>A | CA360507910 | LNPEP | c.2254T>A (p.Leu752Met) c.2212T>A (p.Leu738Met) | |
| 5 | g.97014973T>C | CA445518102 | LNPEP | c.2254T>C (p.Leu752=) c.2212T>C (p.Leu738=) | gnomAD v4 |
| 5 | g.97014973T>G | CA360507912 | LNPEP | c.2254T>G (p.Leu752Val) c.2212T>G (p.Leu738Val) | |
| 5 | g.97014974T>A | CA360507915 | LNPEP | c.2255T>A (p.Leu752Ter) c.2213T>A (p.Leu738Ter) | |
| 5 | g.97014974T>C | CA360507913 | LNPEP | c.2255T>C (p.Leu752Ser) c.2213T>C (p.Leu738Ser) | gnomAD v4 |
| 5 | g.97014974T>G | CA360507914 | LNPEP | c.2255T>G (p.Leu752Trp) c.2213T>G (p.Leu738Trp) | |
| 5 | g.97014975G>A | CA445518109 | LNPEP | c.2256G>A (p.Leu752=) c.2214G>A (p.Leu738=) | |
| 5 | g.97014975G>C | CA3354206 | LNPEP | c.2256G>C (p.Leu752Phe) c.2214G>C (p.Leu738Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97014975G= | CA1565681229 | LNPEP | c.2256G= (p.Leu752=) c.2214G= (p.Leu738=) | |
| 5 | g.97014975G>T | CA360507917 | LNPEP | c.2256G>T (p.Leu752Phe) c.2214G>T (p.Leu738Phe) | gnomAD v4 |
| 5 | g.97014975_97014979delinsGATTA | CA1565681230 | LNPEP | c.2256_2260delinsGATTA (p.Leu752=) c.2214_2218delinsGATTA (p.Leu738=) | |
| 5 | g.97014976A= | CA1565681231 | LNPEP | c.2257A= (p.Ile753=) c.2215A= (p.Ile739=) | |
| 5 | g.97014976A>C | CA360507919 | LNPEP | c.2257A>C (p.Ile753Leu) c.2215A>C (p.Ile739Leu) | |
| 5 | g.97014976A>G | CA360507920 | LNPEP | c.2257A>G (p.Ile753Val) c.2215A>G (p.Ile739Val) | |
| 5 | g.97014976A>T | CA3354207 | LNPEP | c.2257A>T (p.Ile753Phe) c.2215A>T (p.Ile739Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97014980_97014983del | CA561295805 | LNPEP | c.2261_2264del (p.Asn754IlefsTer?) c.2219_2222del (p.Asn740IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97014977T>A | CA360507921 | LNPEP | c.2258T>A (p.Ile753Asn) c.2216T>A (p.Ile739Asn) | |
| 5 | g.97014977T>C | CA360507925 | LNPEP | c.2258T>C (p.Ile753Thr) c.2216T>C (p.Ile739Thr) | |
| 5 | g.97014977T>G | CA360507923 | LNPEP | c.2258T>G (p.Ile753Ser) c.2216T>G (p.Ile739Ser) | |
| 5 | g.97014978T>A | CA445518118 | LNPEP | c.2259T>A (p.Ile753=) c.2217T>A (p.Ile739=) | gnomAD v4 |
| 5 | g.97014978T>C | CA445518120 | LNPEP | c.2259T>C (p.Ile753=) c.2217T>C (p.Ile739=) | gnomAD v4 |
| 5 | g.97014978T>G | CA360507927 | LNPEP | c.2259T>G (p.Ile753Met) c.2217T>G (p.Ile739Met) | |
| 5 | g.97014979A= | CA1565681232 | LNPEP | c.2260A= (p.Asn754=) c.2218A= (p.Asn740=) | |
| 5 | g.97014979A>C | CA360507929 | LNPEP | c.2260A>C (p.Asn754His) c.2218A>C (p.Asn740His) | |
| 5 | g.97014979A>G | CA360507930 | LNPEP | c.2260A>G (p.Asn754Asp) c.2218A>G (p.Asn740Asp) | dbSNP |
| 5 | g.97014979A>T | CA360507931 | LNPEP | c.2260A>T (p.Asn754Tyr) c.2218A>T (p.Asn740Tyr) | |
| 5 | g.97014980A= | CA1565681233 | LNPEP | c.2261A= (p.Asn754=) c.2219A= (p.Asn740=) | |
| 5 | g.97014980A>C | CA360507934 | LNPEP | c.2261A>C (p.Asn754Thr) c.2219A>C (p.Asn740Thr) | |
| 5 | g.97014980A>G | CA360507935 | LNPEP | c.2261A>G (p.Asn754Ser) c.2219A>G (p.Asn740Ser) | dbSNP gnomAD v4 |
| 5 | g.97014980A>T | CA360507937 | LNPEP | c.2261A>T (p.Asn754Ile) c.2219A>T (p.Asn740Ile) | |
| 5 | g.97014981T>A | CA360507938 | LNPEP | c.2262T>A (p.Asn754Lys) c.2220T>A (p.Asn740Lys) | |
| 5 | g.97014981T>C | CA445518128 | LNPEP | c.2262T>C (p.Asn754=) c.2220T>C (p.Asn740=) | gnomAD v4 |
| 5 | g.97014981T>G | CA360507939 | LNPEP | c.2262T>G (p.Asn754Lys) c.2220T>G (p.Asn740Lys) | gnomAD v4 |
| 5 | g.97014982T>A | CA360507941 | LNPEP | c.2263T>A (p.Tyr755Asn) c.2221T>A (p.Tyr741Asn) | |
| 5 | g.97014982T>C | CA360507943 | LNPEP | c.2263T>C (p.Tyr755His) c.2221T>C (p.Tyr741His) | |
| 5 | g.97014982T>G | CA360507944 | LNPEP | c.2263T>G (p.Tyr755Asp) c.2221T>G (p.Tyr741Asp) | |
| 5 | g.97014983A= | CA1565681234 | LNPEP | c.2264A= (p.Tyr755=) c.2222A= (p.Tyr741=) | |
| 5 | g.97014983A>C | CA360507946 | LNPEP | c.2264A>C (p.Tyr755Ser) c.2222A>C (p.Tyr741Ser) | |
| 5 | g.97014983A>G | CA360507947 | LNPEP | c.2264A>G (p.Tyr755Cys) c.2222A>G (p.Tyr741Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97014983A>T | CA360507945 | LNPEP | c.2264A>T (p.Tyr755Phe) c.2222A>T (p.Tyr741Phe) | |
| 5 | g.97014984T>A | CA360507949 | LNPEP | c.2265T>A (p.Tyr755Ter) c.2223T>A (p.Tyr741Ter) | |
| 5 | g.97014984T>C | CA445518138 | LNPEP | c.2265T>C (p.Tyr755=) c.2223T>C (p.Tyr741=) | |
| 5 | g.97014984T>G | CA360507948 | LNPEP | c.2265T>G (p.Tyr755Ter) c.2223T>G (p.Tyr741Ter) | |
| 5 | g.97014985C>A | CA360507953 | LNPEP | c.2266C>A (p.Leu756Ile) c.2224C>A (p.Leu742Ile) | gnomAD v4 |
| 5 | g.97014985C>G | CA360507951 | LNPEP | c.2266C>G (p.Leu756Val) c.2224C>G (p.Leu742Val) | |
| 5 | g.97014985C>T | CA360507955 | LNPEP | c.2266C>T (p.Leu756Phe) c.2224C>T (p.Leu742Phe) | gnomAD v4 |
| 5 | g.97014986T>A | CA360507956 | LNPEP | c.2267T>A (p.Leu756His) c.2225T>A (p.Leu742His) | |
| 5 | g.97014986T>C | CA360507961 | LNPEP | c.2267T>C (p.Leu756Pro) c.2225T>C (p.Leu742Pro) | |
| 5 | g.97014986T>G | CA360507959 | LNPEP | c.2267T>G (p.Leu756Arg) c.2225T>G (p.Leu742Arg) | COSMIC |
| 5 | g.97014987T>A | CA445518147 | LNPEP | c.2268T>A (p.Leu756=) c.2226T>A (p.Leu742=) | |
| 5 | g.97014987T>C | CA445518149 | LNPEP | c.2268T>C (p.Leu756=) c.2226T>C (p.Leu742=) | gnomAD v4 |
| 5 | g.97014987T>G | CA3354208 | LNPEP | c.2268T>G (p.Leu756=) c.2226T>G (p.Leu742=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97014987T= | CA1565681235 | LNPEP | c.2268T= (p.Leu756=) c.2226T= (p.Leu742=) | |
| 5 | g.97014988G>A | CA360507975 | LNPEP | c.2269G>A (p.Gly757Arg) c.2227G>A (p.Gly743Arg) | gnomAD v4 |
| 5 | g.97014988G>C | CA360507965 | LNPEP | c.2269G>C (p.Gly757Arg) c.2227G>C (p.Gly743Arg) | |
| 5 | g.97014988G>T | CA360507973 | LNPEP | c.2269G>T (p.Gly757Ter) c.2227G>T (p.Gly743Ter) | gnomAD v4 |
| 5 | g.97014989G>A | CA360507978 | LNPEP | c.2270G>A (p.Gly757Glu) c.2228G>A (p.Gly743Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97014989G>C | CA360507981 | LNPEP | c.2270G>C (p.Gly757Ala) c.2228G>C (p.Gly743Ala) | |
| 5 | g.97014989G= | CA1565681236 | LNPEP | c.2270G= (p.Gly757=) c.2228G= (p.Gly743=) | |
| 5 | g.97014989G>T | CA360507983 | LNPEP | c.2270G>T (p.Gly757Val) c.2228G>T (p.Gly743Val) | gnomAD v4 |
| 5 | g.97014990A>C | CA445518158 | LNPEP | c.2271A>C (p.Gly757=) c.2229A>C (p.Gly743=) | |
| 5 | g.97014990A>G | CA445518159 | LNPEP | c.2271A>G (p.Gly757=) c.2229A>G (p.Gly743=) | gnomAD v4 |
| 5 | g.97014990A>T | CA445518161 | LNPEP | c.2271A>T (p.Gly757=) c.2229A>T (p.Gly743=) | |
| 5 | g.97014992del | CA2674699046 | LNPEP | c.2273del (p.Asn758MetfsTer?) c.2231del (p.Asn744MetfsTer?) | gnomAD v4 |
| 5 | g.97014991A>C | CA360507986 | LNPEP | c.2272A>C (p.Asn758His) c.2230A>C (p.Asn744His) | |
| 5 | g.97014991A>G | CA360507989 | LNPEP | c.2272A>G (p.Asn758Asp) c.2230A>G (p.Asn744Asp) | |
| 5 | g.97014991A>T | CA360507991 | LNPEP | c.2272A>T (p.Asn758Tyr) c.2230A>T (p.Asn744Tyr) | |
| 5 | g.97014992A>C | CA360507994 | LNPEP | c.2273A>C (p.Asn758Thr) c.2231A>C (p.Asn744Thr) | ClinVar |
| 5 | g.97014992A>G | CA360507998 | LNPEP | c.2273A>G (p.Asn758Ser) c.2231A>G (p.Asn744Ser) | |
| 5 | g.97014992A>T | CA360508004 | LNPEP | c.2273A>T (p.Asn758Ile) c.2231A>T (p.Asn744Ile) | |
| 5 | g.97014992_97014993insAGTAAATA | CA2518556636 | LNPEP | c.2273_2274insAGTAAATA (p.Asn758LysfsTer?) c.2231_2232insAGTAAATA (p.Asn744LysfsTer?) | |
| 5 | g.97014993T>A | CA360508008 | LNPEP | c.2274T>A (p.Asn758Lys) c.2232T>A (p.Asn744Lys) | |
| 5 | g.97014993T>C | CA445518170 | LNPEP | c.2274T>C (p.Asn758=) c.2232T>C (p.Asn744=) | |
| 5 | g.97014993T>G | CA360508011 | LNPEP | c.2274T>G (p.Asn758Lys) c.2232T>G (p.Asn744Lys) | |
| 5 | g.97014994G>A | CA360508013 | LNPEP | c.2275G>A (p.Glu759Lys) c.2233G>A (p.Glu745Lys) | |
| 5 | g.97014994G>C | CA360508017 | LNPEP | c.2275G>C (p.Glu759Gln) c.2233G>C (p.Glu745Gln) | |
| 5 | g.97014994G= | CA1565681237 | LNPEP | c.2275G= (p.Glu759=) c.2233G= (p.Glu745=) | |
| 5 | g.97014994G>T | CA123004863 | LNPEP | c.2275G>T (p.Glu759Ter) c.2233G>T (p.Glu745Ter) | dbSNP gnomAD v4 |
| 5 | g.97014994_97014995insC | CA2568349463 | LNPEP | c.2275_2276insC (p.Glu759AlafsTer19) c.2233_2234insC (p.Glu745AlafsTer19) | |
| 5 | g.97014995A>C | CA360508020 | LNPEP | c.2276A>C (p.Glu759Ala) c.2234A>C (p.Glu745Ala) | |
| 5 | g.97014995A>G | CA360508023 | LNPEP | c.2276A>G (p.Glu759Gly) c.2234A>G (p.Glu745Gly) | gnomAD v4 |
| 5 | g.97014995A>T | CA360508029 | LNPEP | c.2276A>T (p.Glu759Val) c.2234A>T (p.Glu745Val) | |
| 5 | g.97014996G>A | CA445518180 | LNPEP | c.2277G>A (p.Glu759=) c.2235G>A (p.Glu745=) | gnomAD v4 COSMIC |
| 5 | g.97014996G>C | CA360508031 | LNPEP | c.2277G>C (p.Glu759Asp) c.2235G>C (p.Glu745Asp) | |
| 5 | g.97014996G>T | CA360508032 | LNPEP | c.2277G>T (p.Glu759Asp) c.2235G>T (p.Glu745Asp) | gnomAD v4 |
| 5 | g.97014997A>C | CA360508041 | LNPEP | c.2278A>C (p.Asn760His) c.2236A>C (p.Asn746His) | |
| 5 | g.97014997A>G | CA360508043 | LNPEP | c.2278A>G (p.Asn760Asp) c.2236A>G (p.Asn746Asp) | |
| 5 | g.97014997A>T | CA360508046 | LNPEP | c.2278A>T (p.Asn760Tyr) c.2236A>T (p.Asn746Tyr) | |
| 5 | g.97014997_97014998insGACACACAGAAGAAGTCTATGCATGCTA | CA2500055486 | LNPEP | c.2278_2279insGACACACAGAAGAAGTCTATGCATGCTA (p.Asn760ArgfsTer10) c.2236_2237insGACACACAGAAGAAGTCTATGCATGCTA (p.Asn746ArgfsTer10) | |
| 5 | g.97014998A>C | CA360508051 | LNPEP | c.2279A>C (p.Asn760Thr) c.2237A>C (p.Asn746Thr) | |
| 5 | g.97014998A>G | CA360508052 | LNPEP | c.2279A>G (p.Asn760Ser) c.2237A>G (p.Asn746Ser) | gnomAD v4 |
| 5 | g.97014998A>T | CA360508053 | LNPEP | c.2279A>T (p.Asn760Ile) c.2237A>T (p.Asn746Ile) | |
| 5 | g.97014999C>A | CA360508055 | LNPEP | c.2280C>A (p.Asn760Lys) c.2238C>A (p.Asn746Lys) | |
| 5 | g.97014999C>G | CA360508054 | LNPEP | c.2280C>G (p.Asn760Lys) c.2238C>G (p.Asn746Lys) | |
| 5 | g.97014999C>T | CA445518188 | LNPEP | c.2280C>T (p.Asn760=) c.2238C>T (p.Asn746=) | gnomAD v4 |
| 5 | g.97015000C>A | CA360508056 | LNPEP | c.2281C>A (p.His761Asn) c.2239C>A (p.His747Asn) | gnomAD v4 |
| 5 | g.97015000C= | CA1565681238 | LNPEP | c.2281C= (p.His761=) c.2239C= (p.His747=) | |
| 5 | g.97015000C>G | CA360508064 | LNPEP | c.2281C>G (p.His761Asp) c.2239C>G (p.His747Asp) | |
| 5 | g.97015000C>T | CA360508066 | LNPEP | c.2281C>T (p.His761Tyr) c.2239C>T (p.His747Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97015001A= | CA1565681239 | LNPEP | c.2282A= (p.His761=) c.2240A= (p.His747=) | |
| 5 | g.97015001A>C | CA360508070 | LNPEP | c.2282A>C (p.His761Pro) c.2240A>C (p.His747Pro) | |
| 5 | g.97015001A>G | CA3354209 | LNPEP | c.2282A>G (p.His761Arg) c.2240A>G (p.His747Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015001A>T | CA360508074 | LNPEP | c.2282A>T (p.His761Leu) c.2240A>T (p.His747Leu) | |
| 5 | g.97015002T>A | CA360508076 | LNPEP | c.2283T>A (p.His761Gln) c.2241T>A (p.His747Gln) | |
| 5 | g.97015002T>C | CA445518198 | LNPEP | c.2283T>C (p.His761=) c.2241T>C (p.His747=) | gnomAD v4 |
| 5 | g.97015002T>G | CA360508075 | LNPEP | c.2283T>G (p.His761Gln) c.2241T>G (p.His747Gln) | |
| 5 | g.97015003A= | CA1565681240 | LNPEP | c.2284A= (p.Thr762=) c.2242A= (p.Thr748=) | |
| 5 | g.97015003A>C | CA360508078 | LNPEP | c.2284A>C (p.Thr762Pro) c.2242A>C (p.Thr748Pro) | |
| 5 | g.97015003A>G | CA360508080 | LNPEP | c.2284A>G (p.Thr762Ala) c.2242A>G (p.Thr748Ala) | dbSNP |
| 5 | g.97015003A>T | CA360508082 | LNPEP | c.2284A>T (p.Thr762Ser) c.2242A>T (p.Thr748Ser) | |
| 5 | g.97015004C>A | CA360508084 | LNPEP | c.2285C>A (p.Thr762Asn) c.2243C>A (p.Thr748Asn) | |
| 5 | g.97015004C>G | CA360508086 | LNPEP | c.2285C>G (p.Thr762Ser) c.2243C>G (p.Thr748Ser) | |
| 5 | g.97015004C>T | CA360508088 | LNPEP | c.2285C>T (p.Thr762Ile) c.2243C>T (p.Thr748Ile) | |
| 5 | g.97015005T>A | CA445518206 | LNPEP | c.2286T>A (p.Thr762=) c.2244T>A (p.Thr748=) | |
| 5 | g.97015005T>C | CA445518210 | LNPEP | c.2286T>C (p.Thr762=) c.2244T>C (p.Thr748=) | gnomAD v4 |
| 5 | g.97015005T>G | CA445518208 | LNPEP | c.2286T>G (p.Thr762=) c.2244T>G (p.Thr748=) | |
| 5 | g.97015006del | CA2674699047 | LNPEP | c.2287del (p.Ala763HisfsTer30) c.2245del (p.Ala749HisfsTer30) | gnomAD v4 |
| 5 | g.97015006G>A | CA3354210 | LNPEP | c.2287G>A (p.Ala763Thr) c.2245G>A (p.Ala749Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015006G>C | CA360508091 | LNPEP | c.2287G>C (p.Ala763Pro) c.2245G>C (p.Ala749Pro) | |
| 5 | g.97015006G= | CA1565681241 | LNPEP | c.2287G= (p.Ala763=) c.2245G= (p.Ala749=) | |
| 5 | g.97015006G>T | CA360508095 | LNPEP | c.2287G>T (p.Ala763Ser) c.2245G>T (p.Ala749Ser) | |
| 5 | g.97015007C>A | CA360508096 | LNPEP | c.2288C>A (p.Ala763Glu) c.2246C>A (p.Ala749Glu) | |
| 5 | g.97015007C>G | CA360508098 | LNPEP | c.2288C>G (p.Ala763Gly) c.2246C>G (p.Ala749Gly) | |
| 5 | g.97015007C>T | CA360508100 | LNPEP | c.2288C>T (p.Ala763Val) c.2246C>T (p.Ala749Val) | |
| 5 | g.97015008A>C | CA445518217 | LNPEP | c.2289A>C (p.Ala763=) c.2247A>C (p.Ala749=) | |
| 5 | g.97015008A>G | CA445518219 | LNPEP | c.2289A>G (p.Ala763=) c.2247A>G (p.Ala749=) | |
| 5 | g.97015008A>T | CA445518220 | LNPEP | c.2289A>T (p.Ala763=) c.2247A>T (p.Ala749=) | |
| 5 | g.97015009C>A | CA360508103 | LNPEP | c.2290C>A (p.Pro764Thr) c.2248C>A (p.Pro750Thr) | gnomAD v4 |
| 5 | g.97015009C>G | CA360508104 | LNPEP | c.2290C>G (p.Pro764Ala) c.2248C>G (p.Pro750Ala) | |
| 5 | g.97015009C>T | CA360508106 | LNPEP | c.2290C>T (p.Pro764Ser) c.2248C>T (p.Pro750Ser) | gnomAD v4 COSMIC |
| 5 | g.97015011del | CA2674699048 | LNPEP | c.2292del (p.Ile765SerfsTer28) c.2250del (p.Ile751SerfsTer28) | gnomAD v4 |
| 5 | g.97015010C>A | CA360508109 | LNPEP | c.2291C>A (p.Pro764His) c.2249C>A (p.Pro750His) | |
| 5 | g.97015010C>G | CA360508111 | LNPEP | c.2291C>G (p.Pro764Arg) c.2249C>G (p.Pro750Arg) | |
| 5 | g.97015010C>T | CA360508113 | LNPEP | c.2291C>T (p.Pro764Leu) c.2249C>T (p.Pro750Leu) | gnomAD v4 |
| 5 | g.97015011C>A | CA445518227 | LNPEP | c.2292C>A (p.Pro764=) c.2250C>A (p.Pro750=) | gnomAD v4 |
| 5 | g.97015011C>G | CA445518231 | LNPEP | c.2292C>G (p.Pro764=) c.2250C>G (p.Pro750=) | |
| 5 | g.97015011C>T | CA445518229 | LNPEP | c.2292C>T (p.Pro764=) c.2250C>T (p.Pro750=) | gnomAD v4 |
| 5 | g.97015012A= | CA1565681242 | LNPEP | c.2293A= (p.Ile765=) c.2251A= (p.Ile751=) | |
| 5 | g.97015012A>C | CA360508118 | LNPEP | c.2293A>C (p.Ile765Leu) c.2251A>C (p.Ile751Leu) | |
| 5 | g.97015012A>G | CA360508121 | LNPEP | c.2293A>G (p.Ile765Val) c.2251A>G (p.Ile751Val) | dbSNP |
| 5 | g.97015012A>T | CA360508124 | LNPEP | c.2293A>T (p.Ile765Phe) c.2251A>T (p.Ile751Phe) | gnomAD v4 |
| 5 | g.97015012_97015013insG | CA2564969290 | LNPEP | c.2293_2294insG (p.Ile765SerfsTer13) c.2251_2252insG (p.Ile751SerfsTer13) | |
| 5 | g.97015013T>A | CA360508127 | LNPEP | c.2294T>A (p.Ile765Asn) c.2252T>A (p.Ile751Asn) | |
| 5 | g.97015013T>C | CA360508131 | LNPEP | c.2294T>C (p.Ile765Thr) c.2252T>C (p.Ile751Thr) | |
| 5 | g.97015013T>G | CA360508129 | LNPEP | c.2294T>G (p.Ile765Ser) c.2252T>G (p.Ile751Ser) | |
| 5 | g.97015014C>A | CA445518237 | LNPEP | c.2295C>A (p.Ile765=) c.2253C>A (p.Ile751=) | |
| 5 | g.97015014C>G | CA360508133 | LNPEP | c.2295C>G (p.Ile765Met) c.2253C>G (p.Ile751Met) | |
| 5 | g.97015014C>T | CA445518238 | LNPEP | c.2295C>T (p.Ile765=) c.2253C>T (p.Ile751=) | |
| 5 | g.97015014_97015017del | CA2674699049 | LNPEP | c.2295_2298del (p.Ile765MetfsTer27) c.2253_2256del (p.Ile751MetfsTer27) | gnomAD v4 |
| 5 | g.97015015A>C | CA360508139 | LNPEP | c.2296A>C (p.Thr766Pro) c.2254A>C (p.Thr752Pro) | |
| 5 | g.97015015A>G | CA360508134 | LNPEP | c.2296A>G (p.Thr766Ala) c.2254A>G (p.Thr752Ala) | |
| 5 | g.97015015A>T | CA360508135 | LNPEP | c.2296A>T (p.Thr766Ser) c.2254A>T (p.Thr752Ser) | |
| 5 | g.97015016C>A | CA360508142 | LNPEP | c.2297C>A (p.Thr766Asn) c.2255C>A (p.Thr752Asn) | gnomAD v4 |
| 5 | g.97015016C>G | CA360508143 | LNPEP | c.2297C>G (p.Thr766Ser) c.2255C>G (p.Thr752Ser) | |
| 5 | g.97015016C>T | CA360508145 | LNPEP | c.2297C>T (p.Thr766Ile) c.2255C>T (p.Thr752Ile) | |
| 5 | g.97015017C>A | CA445518242 | LNPEP | c.2298C>A (p.Thr766=) c.2256C>A (p.Thr752=) | |
| 5 | g.97015017C= | CA1565681243 | LNPEP | c.2298C= (p.Thr766=) c.2256C= (p.Thr752=) | |
| 5 | g.97015017C>G | CA445518243 | LNPEP | c.2298C>G (p.Thr766=) c.2256C>G (p.Thr752=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015017C>T | CA3354211 | LNPEP | c.2298C>T (p.Thr766=) c.2256C>T (p.Thr752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015018G>A | CA3354212 | LNPEP | c.2299G>A (p.Glu767Lys) c.2257G>A (p.Glu753Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015018G>C | CA360508155 | LNPEP | c.2299G>C (p.Glu767Gln) c.2257G>C (p.Glu753Gln) | |
| 5 | g.97015018G= | CA1565681244 | LNPEP | c.2299G= (p.Glu767=) c.2257G= (p.Glu753=) | |
| 5 | g.97015018G>T | CA360508157 | LNPEP | c.2299G>T (p.Glu767Ter) c.2257G>T (p.Glu753Ter) | |
| 5 | g.97015019A>C | CA360508160 | LNPEP | c.2300A>C (p.Glu767Ala) c.2258A>C (p.Glu753Ala) | |
| 5 | g.97015019A>G | CA360508163 | LNPEP | c.2300A>G (p.Glu767Gly) c.2258A>G (p.Glu753Gly) | |
| 5 | g.97015019A>T | CA360508168 | LNPEP | c.2300A>T (p.Glu767Val) c.2258A>T (p.Glu753Val) |