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 |
|---|---|---|---|---|---|
| X | g.108621801A>C | CA413851827 | COL4A5 | c.2678-2A>C (n.2678-2A>C) n.2134-2A>C c.2354-2A>C (n.2354-2A>C) c.251-2A>C (n.251-2A>C) c.2693-2A>C (n.2693-2A>C) c.1013-2A>C (n.1013-2A>C) | gnomAD v4 |
| X | g.108621801A>G | CA413851829 | COL4A5 | c.2678-2A>G (n.2678-2A>G) n.2134-2A>G c.2354-2A>G (n.2354-2A>G) c.251-2A>G (n.251-2A>G) c.2693-2A>G (n.2693-2A>G) c.1013-2A>G (n.1013-2A>G) | |
| X | g.108621801A>T | CA413851831 | COL4A5 | c.2678-2A>T (n.2678-2A>T) n.2134-2A>T c.2354-2A>T (n.2354-2A>T) c.251-2A>T (n.251-2A>T) c.2693-2A>T (n.2693-2A>T) c.1013-2A>T (n.1013-2A>T) | |
| X | g.108621802G>A | CA413851833 | COL4A5 | c.2678-1G>A (n.2678-1G>A) n.2134-1G>A c.2354-1G>A (n.2354-1G>A) c.251-1G>A (n.251-1G>A) c.2693-1G>A (n.2693-1G>A) c.1013-1G>A (n.1013-1G>A) | COSMIC COSMIC |
| X | g.108621802G>C | CA413851837 | COL4A5 | c.2678-1G>C (n.2678-1G>C) n.2134-1G>C c.2354-1G>C (n.2354-1G>C) c.251-1G>C (n.251-1G>C) c.2693-1G>C (n.2693-1G>C) c.1013-1G>C (n.1013-1G>C) | |
| X | g.108621802G>T | CA413851835 | COL4A5 | c.2678-1G>T (n.2678-1G>T) n.2134-1G>T c.2354-1G>T (n.2354-1G>T) c.251-1G>T (n.251-1G>T) c.2693-1G>T (n.2693-1G>T) c.1013-1G>T (n.1013-1G>T) | |
| X | g.108621803G>A | CA413851839 | COL4A5 | c.2678G>A (p.Gly893Asp) n.2134G>A c.2354G>A (p.Gly785Asp) c.251G>A (p.Gly84Asp) c.2693G>A (p.Gly898Asp) c.1013G>A (p.Gly338Asp) | ClinVar gnomAD v4 |
| X | g.108621803G>C | CA413851841 | COL4A5 | c.2678G>C (p.Gly893Ala) n.2134G>C c.2354G>C (p.Gly785Ala) c.251G>C (p.Gly84Ala) c.2693G>C (p.Gly898Ala) c.1013G>C (p.Gly338Ala) | ClinVar dbSNP |
| X | g.108621803G= | CA2450696558 | COL4A5 | c.2678G= (p.Gly893=) n.2134G= c.2354G= (p.Gly785=) c.251G= (p.Gly84=) c.2693G= (p.Gly898=) c.1013G= (p.Gly338=) | |
| X | g.108621803G>T | CA261082 | COL4A5 | c.2678G>T (p.Gly893Val) n.2134G>T c.2354G>T (p.Gly785Val) c.251G>T (p.Gly84Val) c.2693G>T (p.Gly898Val) c.1013G>T (p.Gly338Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108621804T>A | CA517924355 | COL4A5 | c.2679T>A (p.Gly893=) n.2135T>A c.2355T>A (p.Gly785=) c.252T>A (p.Gly84=) c.2694T>A (p.Gly898=) c.1014T>A (p.Gly338=) | |
| X | g.108621804T>C | CA10488965 | COL4A5 | c.2679T>C (p.Gly893=) n.2135T>C c.2355T>C (p.Gly785=) c.252T>C (p.Gly84=) c.2694T>C (p.Gly898=) c.1014T>C (p.Gly338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108621804T>G | CA517924358 | COL4A5 | c.2679T>G (p.Gly893=) n.2135T>G c.2355T>G (p.Gly785=) c.252T>G (p.Gly84=) c.2694T>G (p.Gly898=) c.1014T>G (p.Gly338=) | |
| X | g.108621804T= | CA2450696559 | COL4A5 | c.2679T= (p.Gly893=) n.2135T= c.2355T= (p.Gly785=) c.252T= (p.Gly84=) c.2694T= (p.Gly898=) c.1014T= (p.Gly338=) | |
| X | g.108621805A= | CA2450696560 | COL4A5 | c.2680A= (p.Thr894=) n.2136A= c.2356A= (p.Thr786=) c.253A= (p.Thr85=) c.2695A= (p.Thr899=) c.1015A= (p.Thr339=) | |
| X | g.108621805A>C | CA413851845 | COL4A5 | c.2680A>C (p.Thr894Pro) n.2136A>C c.2356A>C (p.Thr786Pro) c.253A>C (p.Thr85Pro) c.2695A>C (p.Thr899Pro) c.1015A>C (p.Thr339Pro) | |
| X | g.108621805A>G | CA413851847 | COL4A5 | c.2680A>G (p.Thr894Ala) n.2136A>G c.2356A>G (p.Thr786Ala) c.253A>G (p.Thr85Ala) c.2695A>G (p.Thr899Ala) c.1015A>G (p.Thr339Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108621805A>T | CA413851849 | COL4A5 | c.2680A>T (p.Thr894Ser) n.2136A>T c.2356A>T (p.Thr786Ser) c.253A>T (p.Thr85Ser) c.2695A>T (p.Thr899Ser) c.1015A>T (p.Thr339Ser) | |
| X | g.108621806C>A | CA413851851 | COL4A5 | c.2681C>A (p.Thr894Asn) n.2137C>A c.2357C>A (p.Thr786Asn) c.254C>A (p.Thr85Asn) c.2696C>A (p.Thr899Asn) c.1016C>A (p.Thr339Asn) | gnomAD v4 |
| X | g.108621806C= | CA2450696561 | COL4A5 | c.2681C= (p.Thr894=) n.2137C= c.2357C= (p.Thr786=) c.254C= (p.Thr85=) c.2696C= (p.Thr899=) c.1016C= (p.Thr339=) | |
| X | g.108621806C>G | CA413851853 | COL4A5 | c.2681C>G (p.Thr894Ser) n.2137C>G c.2357C>G (p.Thr786Ser) c.254C>G (p.Thr85Ser) c.2696C>G (p.Thr899Ser) c.1016C>G (p.Thr339Ser) | |
| X | g.108621806C>T | CA10488966 | COL4A5 | c.2681C>T (p.Thr894Ile) n.2137C>T c.2357C>T (p.Thr786Ile) c.254C>T (p.Thr85Ile) c.2696C>T (p.Thr899Ile) c.1016C>T (p.Thr339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108621807C>A | CA517924360 | COL4A5 | c.2682C>A (p.Thr894=) n.2138C>A c.2358C>A (p.Thr786=) c.255C>A (p.Thr85=) c.2697C>A (p.Thr899=) c.1017C>A (p.Thr339=) | ClinVar dbSNP gnomAD v2 |
| X | g.108621807C= | CA2450696562 | COL4A5 | c.2682C= (p.Thr894=) n.2138C= c.2358C= (p.Thr786=) c.255C= (p.Thr85=) c.2697C= (p.Thr899=) c.1017C= (p.Thr339=) | |
| X | g.108621807C>G | CA517924361 | COL4A5 | c.2682C>G (p.Thr894=) n.2138C>G c.2358C>G (p.Thr786=) c.255C>G (p.Thr85=) c.2697C>G (p.Thr899=) c.1017C>G (p.Thr339=) | |
| X | g.108621807C>T | CA517924363 | COL4A5 | c.2682C>T (p.Thr894=) n.2138C>T c.2358C>T (p.Thr786=) c.255C>T (p.Thr85=) c.2697C>T (p.Thr899=) c.1017C>T (p.Thr339=) | |
| X | g.108621808A>C | CA413851856 | COL4A5 | c.2683A>C (p.Lys895Gln) n.2139A>C c.2359A>C (p.Lys787Gln) c.256A>C (p.Lys86Gln) c.2698A>C (p.Lys900Gln) c.1018A>C (p.Lys340Gln) | |
| X | g.108621808A>G | CA413851858 | COL4A5 | c.2683A>G (p.Lys895Glu) n.2139A>G c.2359A>G (p.Lys787Glu) c.256A>G (p.Lys86Glu) c.2698A>G (p.Lys900Glu) c.1018A>G (p.Lys340Glu) | |
| X | g.108621808A>T | CA413851859 | COL4A5 | c.2683A>T (p.Lys895Ter) n.2139A>T c.2359A>T (p.Lys787Ter) c.256A>T (p.Lys86Ter) c.2698A>T (p.Lys900Ter) c.1018A>T (p.Lys340Ter) | ClinVar |
| X | g.108621810del | CA2579676556 | COL4A5 | c.2685del (p.Gly896ValfsTer5) n.2141del c.2361del (p.Gly788ValfsTer5) c.258del (p.Gly87ValfsTer5) c.2700del (p.Gly901ValfsTer5) c.1020del (p.Gly341ValfsTer5) | |
| X | g.108621809A>C | CA413851865 | COL4A5 | c.2684A>C (p.Lys895Thr) n.2140A>C c.2360A>C (p.Lys787Thr) c.257A>C (p.Lys86Thr) c.2699A>C (p.Lys900Thr) c.1019A>C (p.Lys340Thr) | |
| X | g.108621809A>G | CA413851862 | COL4A5 | c.2684A>G (p.Lys895Arg) n.2140A>G c.2360A>G (p.Lys787Arg) c.257A>G (p.Lys86Arg) c.2699A>G (p.Lys900Arg) c.1019A>G (p.Lys340Arg) | |
| X | g.108621809A>T | CA413851863 | COL4A5 | c.2684A>T (p.Lys895Ile) n.2140A>T c.2360A>T (p.Lys787Ile) c.257A>T (p.Lys86Ile) c.2699A>T (p.Lys900Ile) c.1019A>T (p.Lys340Ile) | |
| X | g.108621810A>C | CA413851868 | COL4A5 | c.2685A>C (p.Lys895Asn) n.2141A>C c.2361A>C (p.Lys787Asn) c.258A>C (p.Lys86Asn) c.2700A>C (p.Lys900Asn) c.1020A>C (p.Lys340Asn) | |
| X | g.108621810A>G | CA517924366 | COL4A5 | c.2685A>G (p.Lys895=) n.2141A>G c.2361A>G (p.Lys787=) c.258A>G (p.Lys86=) c.2700A>G (p.Lys900=) c.1020A>G (p.Lys340=) | |
| X | g.108621810A>T | CA413851869 | COL4A5 | c.2685A>T (p.Lys895Asn) n.2141A>T c.2361A>T (p.Lys787Asn) c.258A>T (p.Lys86Asn) c.2700A>T (p.Lys900Asn) c.1020A>T (p.Lys340Asn) | |
| X | g.108621810_108621811delinsAG | CA2450696563 | COL4A5 | c.2685_2686delinsAG (p.Lys895=) n.2141_2142delinsAG c.2361_2362delinsAG (p.Lys787=) c.258_259delinsAG (p.Lys86=) c.2700_2701delinsAG (p.Lys900=) c.1020_1021delinsAG (p.Lys340=) | |
| X | g.108621811G>A | CA413851871 | COL4A5 | c.2686G>A (p.Gly896Ser) n.2142G>A c.2362G>A (p.Gly788Ser) c.259G>A (p.Gly87Ser) c.2701G>A (p.Gly901Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
| X | g.108621811G>C | CA413851873 | COL4A5 | c.2686G>C (p.Gly896Arg) n.2142G>C c.2362G>C (p.Gly788Arg) c.259G>C (p.Gly87Arg) c.2701G>C (p.Gly901Arg) c.1021G>C (p.Gly341Arg) | dbSNP |
| X | g.108621811G= | CA2450696564 | COL4A5 | c.2686G= (p.Gly896=) n.2142G= c.2362G= (p.Gly788=) c.259G= (p.Gly87=) c.2701G= (p.Gly901=) c.1021G= (p.Gly341=) | |
| X | g.108621811G>T | CA413851875 | COL4A5 | c.2686G>T (p.Gly896Cys) n.2142G>T c.2362G>T (p.Gly788Cys) c.259G>T (p.Gly87Cys) c.2701G>T (p.Gly901Cys) c.1021G>T (p.Gly341Cys) | |
| X | g.108621812del | CA258738 | COL4A5 | c.2687del (p.Gly896ValfsTer5) n.2143del c.2363del (p.Gly788ValfsTer5) c.260del (p.Gly87ValfsTer5) c.2702del (p.Gly901ValfsTer5) c.1022del (p.Gly341ValfsTer5) | dbSNP |
| X | g.108621812G>A | CA413851879 | COL4A5 | c.2687G>A (p.Gly896Asp) n.2143G>A c.2363G>A (p.Gly788Asp) c.260G>A (p.Gly87Asp) c.2702G>A (p.Gly901Asp) c.1022G>A (p.Gly341Asp) | |
| X | g.108621812G>C | CA413851880 | COL4A5 | c.2687G>C (p.Gly896Ala) n.2143G>C c.2363G>C (p.Gly788Ala) c.260G>C (p.Gly87Ala) c.2702G>C (p.Gly901Ala) c.1022G>C (p.Gly341Ala) | |
| X | g.108621812G>T | CA413851882 | COL4A5 | c.2687G>T (p.Gly896Val) n.2143G>T c.2363G>T (p.Gly788Val) c.260G>T (p.Gly87Val) c.2702G>T (p.Gly901Val) c.1022G>T (p.Gly341Val) | ClinVar |
| X | g.108621813T>A | CA517924367 | COL4A5 | c.2688T>A (p.Gly896=) n.2144T>A c.2364T>A (p.Gly788=) c.261T>A (p.Gly87=) c.2703T>A (p.Gly901=) c.1023T>A (p.Gly341=) | |
| X | g.108621813T>C | CA517924368 | COL4A5 | c.2688T>C (p.Gly896=) n.2144T>C c.2364T>C (p.Gly788=) c.261T>C (p.Gly87=) c.2703T>C (p.Gly901=) c.1023T>C (p.Gly341=) | |
| X | g.108621813T>G | CA517924369 | COL4A5 | c.2688T>G (p.Gly896=) n.2144T>G c.2364T>G (p.Gly788=) c.261T>G (p.Gly87=) c.2703T>G (p.Gly901=) c.1023T>G (p.Gly341=) | |
| X | g.108621815_108621819del | CA2695235220 | COL4A5 | c.2690_2694del (p.Glu897GlyfsTer24) n.2146_2150del c.2366_2370del (p.Glu789GlyfsTer24) c.263_267del (p.Glu88GlyfsTer24) c.2705_2709del (p.Glu902GlyfsTer24) c.1025_1029del (p.Glu342GlyfsTer24) | |
| X | g.108621814G>A | CA413851883 | COL4A5 | c.2689G>A (p.Glu897Lys) n.2145G>A c.2365G>A (p.Glu789Lys) c.262G>A (p.Glu88Lys) c.2704G>A (p.Glu902Lys) c.1024G>A (p.Glu342Lys) |