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.108626319_108626332del | CA2697544691 | COL4A5 | c.3216_3229del (p.Ser1072ArgfsTer8) n.2672_2685del c.449_462del c.3216_3229del (p.Ser1072ArgfsTer?) c.2892_2905del (p.Ser964ArgfsTer8) c.789_802del (p.Ser263ArgfsTer8) c.3231_3244del (p.Ser1077ArgfsTer8) c.1551_1564del (p.Ser517ArgfsTer8) | ClinVar |
| X | g.108626323G>A | CA10489045 | COL4A5 | c.3220G>A (p.Gly1074Ser) n.2676G>A c.453G>A c.2896G>A (p.Gly966Ser) c.793G>A (p.Gly265Ser) c.3235G>A (p.Gly1079Ser) c.1555G>A (p.Gly519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626323G>C | CA10489046 | COL4A5 | c.3220G>C (p.Gly1074Arg) n.2676G>C c.453G>C c.2896G>C (p.Gly966Arg) c.793G>C (p.Gly265Arg) c.3235G>C (p.Gly1079Arg) c.1555G>C (p.Gly519Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108626323G= | CA2450697596 | COL4A5 | c.3220G= (p.Gly1074=) n.2676G= c.453G= c.2896G= (p.Gly966=) c.793G= (p.Gly265=) c.3235G= (p.Gly1079=) c.1555G= (p.Gly519=) | |
| X | g.108626323G>T | CA413855071 | COL4A5 | c.3220G>T (p.Gly1074Cys) n.2676G>T c.453G>T c.2896G>T (p.Gly966Cys) c.793G>T (p.Gly265Cys) c.3235G>T (p.Gly1079Cys) c.1555G>T (p.Gly519Cys) | gnomAD v4 |
| X | g.108626324G>A | CA413855072 | COL4A5 | c.3221G>A (p.Gly1074Asp) n.2677G>A c.454G>A c.2897G>A (p.Gly966Asp) c.794G>A (p.Gly265Asp) c.3236G>A (p.Gly1079Asp) c.1556G>A (p.Gly519Asp) | |
| X | g.108626324G>C | CA413855073 | COL4A5 | c.3221G>C (p.Gly1074Ala) n.2677G>C c.454G>C c.2897G>C (p.Gly966Ala) c.794G>C (p.Gly265Ala) c.3236G>C (p.Gly1079Ala) c.1556G>C (p.Gly519Ala) | |
| X | g.108626324G>T | CA413855074 | COL4A5 | c.3221G>T (p.Gly1074Val) n.2677G>T c.454G>T c.2897G>T (p.Gly966Val) c.794G>T (p.Gly265Val) c.3236G>T (p.Gly1079Val) c.1556G>T (p.Gly519Val) | |
| X | g.108626325T>A | CA517926012 | COL4A5 | c.3222T>A (p.Gly1074=) n.2678T>A c.455T>A c.2898T>A (p.Gly966=) c.795T>A (p.Gly265=) c.3237T>A (p.Gly1079=) c.1557T>A (p.Gly519=) | |
| X | g.108626325T>C | CA517926013 | COL4A5 | c.3222T>C (p.Gly1074=) n.2678T>C c.455T>C c.2898T>C (p.Gly966=) c.795T>C (p.Gly265=) c.3237T>C (p.Gly1079=) c.1557T>C (p.Gly519=) | |
| X | g.108626325T>G | CA10489047 | COL4A5 | c.3222T>G (p.Gly1074=) n.2678T>G c.455T>G c.2898T>G (p.Gly966=) c.795T>G (p.Gly265=) c.3237T>G (p.Gly1079=) c.1557T>G (p.Gly519=) | dbSNP ExAC gnomAD v2 |
| X | g.108626325T= | CA2450697600 | COL4A5 | c.3222T= (p.Gly1074=) n.2678T= c.455T= c.2898T= (p.Gly966=) c.795T= (p.Gly265=) c.3237T= (p.Gly1079=) c.1557T= (p.Gly519=) | |
| X | g.108626326C>A | CA413855075 | COL4A5 | c.3223C>A (p.Leu1075Ile) n.2679C>A c.456C>A c.2899C>A (p.Leu967Ile) c.796C>A (p.Leu266Ile) c.3238C>A (p.Leu1080Ile) c.1558C>A (p.Leu520Ile) | |
| X | g.108626326C= | CA2450697603 | COL4A5 | c.3223C= (p.Leu1075=) n.2679C= c.456C= c.2899C= (p.Leu967=) c.796C= (p.Leu266=) c.3238C= (p.Leu1080=) c.1558C= (p.Leu520=) | |
| X | g.108626326C>G | CA413855076 | COL4A5 | c.3223C>G (p.Leu1075Val) n.2679C>G c.456C>G c.2899C>G (p.Leu967Val) c.796C>G (p.Leu266Val) c.3238C>G (p.Leu1080Val) c.1558C>G (p.Leu520Val) | |
| X | g.108626326C>T | CA334052658 | COL4A5 | c.3223C>T (p.Leu1075Phe) n.2679C>T c.456C>T c.2899C>T (p.Leu967Phe) c.796C>T (p.Leu266Phe) c.3238C>T (p.Leu1080Phe) c.1558C>T (p.Leu520Phe) | dbSNP |
| X | g.108626327T>A | CA413855077 | COL4A5 | c.3224T>A (p.Leu1075His) n.2680T>A c.457T>A c.2900T>A (p.Leu967His) c.797T>A (p.Leu266His) c.3239T>A (p.Leu1080His) c.1559T>A (p.Leu520His) | |
| X | g.108626327T>C | CA413855078 | COL4A5 | c.3224T>C (p.Leu1075Pro) n.2680T>C c.457T>C c.2900T>C (p.Leu967Pro) c.797T>C (p.Leu266Pro) c.3239T>C (p.Leu1080Pro) c.1559T>C (p.Leu520Pro) | |
| X | g.108626327T>G | CA413855079 | COL4A5 | c.3224T>G (p.Leu1075Arg) n.2680T>G c.457T>G c.2900T>G (p.Leu967Arg) c.797T>G (p.Leu266Arg) c.3239T>G (p.Leu1080Arg) c.1559T>G (p.Leu520Arg) | dbSNP gnomAD v2 |
| X | g.108626327T= | CA2450697604 | COL4A5 | c.3224T= (p.Leu1075=) n.2680T= c.457T= c.2900T= (p.Leu967=) c.797T= (p.Leu266=) c.3239T= (p.Leu1080=) c.1559T= (p.Leu520=) | |
| X | g.108626328T>A | CA517926015 | COL4A5 | c.3225T>A (p.Leu1075=) n.2681T>A c.458T>A c.2901T>A (p.Leu967=) c.798T>A (p.Leu266=) c.3240T>A (p.Leu1080=) c.1560T>A (p.Leu520=) | |
| X | g.108626328T>C | CA517926017 | COL4A5 | c.3225T>C (p.Leu1075=) n.2681T>C c.458T>C c.2901T>C (p.Leu967=) c.798T>C (p.Leu266=) c.3240T>C (p.Leu1080=) c.1560T>C (p.Leu520=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108626328T>G | CA517926016 | COL4A5 | c.3225T>G (p.Leu1075=) n.2681T>G c.458T>G c.2901T>G (p.Leu967=) c.798T>G (p.Leu266=) c.3240T>G (p.Leu1080=) c.1560T>G (p.Leu520=) | |
| X | g.108626328T= | CA2450697608 | COL4A5 | c.3225T= (p.Leu1075=) n.2681T= c.458T= c.2901T= (p.Leu967=) c.798T= (p.Leu266=) c.3240T= (p.Leu1080=) c.1560T= (p.Leu520=) | |
| X | g.108626328_108626329delinsTC | CA2450697606 | COL4A5 | c.3225_3226delinsTC (p.Leu1075=) n.2681_2682delinsTC c.458_459delinsTC c.2901_2902delinsTC (p.Leu967=) c.798_799delinsTC (p.Leu266=) c.3240_3241delinsTC (p.Leu1080=) c.1560_1561delinsTC (p.Leu520=) | |
| X | g.108626329C>A | CA413855080 | COL4A5 | c.3226C>A (p.Pro1076Thr) n.2682C>A c.459C>A c.2902C>A (p.Pro968Thr) c.799C>A (p.Pro267Thr) c.3241C>A (p.Pro1081Thr) c.1561C>A (p.Pro521Thr) | |
| X | g.108626329C= | CA2450697613 | COL4A5 | c.3226C= (p.Pro1076=) n.2682C= c.459C= c.2902C= (p.Pro968=) c.799C= (p.Pro267=) c.3241C= (p.Pro1081=) c.1561C= (p.Pro521=) | |
| X | g.108626329C>G | CA413855081 | COL4A5 | c.3226C>G (p.Pro1076Ala) n.2682C>G c.459C>G c.2902C>G (p.Pro968Ala) c.799C>G (p.Pro267Ala) c.3241C>G (p.Pro1081Ala) c.1561C>G (p.Pro521Ala) | |
| X | g.108626329C>T | CA10489048 | COL4A5 | c.3226C>T (p.Pro1076Ser) n.2682C>T c.459C>T c.2902C>T (p.Pro968Ser) c.799C>T (p.Pro267Ser) c.3241C>T (p.Pro1081Ser) c.1561C>T (p.Pro521Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108626330del | CA891843949 | COL4A5 | c.3227del (p.Pro1076GlnfsTer?) n.2683del c.460del c.3227del (p.Pro1076GlnfsTer8) c.2903del (p.Pro968GlnfsTer?) c.800del (p.Pro267GlnfsTer?) c.3242del (p.Pro1081GlnfsTer?) c.1562del (p.Pro521GlnfsTer?) | |
| X | g.108626330C>A | CA413855083 | COL4A5 | c.3227C>A (p.Pro1076Gln) n.2683C>A c.460C>A c.2903C>A (p.Pro968Gln) c.800C>A (p.Pro267Gln) c.3242C>A (p.Pro1081Gln) c.1562C>A (p.Pro521Gln) | |
| X | g.108626330C>G | CA413855084 | COL4A5 | c.3227C>G (p.Pro1076Arg) n.2683C>G c.460C>G c.2903C>G (p.Pro968Arg) c.800C>G (p.Pro267Arg) c.3242C>G (p.Pro1081Arg) c.1562C>G (p.Pro521Arg) | |
| X | g.108626330C>T | CA413855082 | COL4A5 | c.3227C>T (p.Pro1076Leu) n.2683C>T c.460C>T c.2903C>T (p.Pro968Leu) c.800C>T (p.Pro267Leu) c.3242C>T (p.Pro1081Leu) c.1562C>T (p.Pro521Leu) | COSMIC COSMIC |
| X | g.108626331A= | CA2450697621 | COL4A5 | c.3228A= (p.Pro1076=) n.2684A= c.461A= c.2904A= (p.Pro968=) c.801A= (p.Pro267=) c.3243A= (p.Pro1081=) c.1563A= (p.Pro521=) | |
| X | g.108626331A>C | CA517926019 | COL4A5 | c.3228A>C (p.Pro1076=) n.2684A>C c.461A>C c.2904A>C (p.Pro968=) c.801A>C (p.Pro267=) c.3243A>C (p.Pro1081=) c.1563A>C (p.Pro521=) | |
| X | g.108626331A>G | CA517926020 | COL4A5 | c.3228A>G (p.Pro1076=) n.2684A>G c.461A>G c.2904A>G (p.Pro968=) c.801A>G (p.Pro267=) c.3243A>G (p.Pro1081=) c.1563A>G (p.Pro521=) | |
| X | g.108626331A>T | CA334052664 | COL4A5 | c.3228A>T (p.Pro1076=) n.2684A>T c.461A>T c.2904A>T (p.Pro968=) c.801A>T (p.Pro267=) c.3243A>T (p.Pro1081=) c.1563A>T (p.Pro521=) | dbSNP |
| X | g.108626332G>A | CA413855085 | COL4A5 | c.3229G>A (p.Gly1077Ser) n.2685G>A c.462G>A c.2905G>A (p.Gly969Ser) c.802G>A (p.Gly268Ser) c.3244G>A (p.Gly1082Ser) c.1564G>A (p.Gly522Ser) | |
| X | g.108626332G>C | CA413855087 | COL4A5 | c.3229G>C (p.Gly1077Arg) n.2685G>C c.462G>C c.2905G>C (p.Gly969Arg) c.802G>C (p.Gly268Arg) c.3244G>C (p.Gly1082Arg) c.1564G>C (p.Gly522Arg) | |
| X | g.108626332G>T | CA413855086 | COL4A5 | c.3229G>T (p.Gly1077Cys) n.2685G>T c.462G>T c.2905G>T (p.Gly969Cys) c.802G>T (p.Gly268Cys) c.3244G>T (p.Gly1082Cys) c.1564G>T (p.Gly522Cys) | |
| X | g.108626333del | CA2573159106 | COL4A5 | c.3230del (p.Gly1077ValfsTer?) n.2686del c.463del c.3230del (p.Gly1077ValfsTer7) c.2906del (p.Gly969ValfsTer?) c.803del (p.Gly268ValfsTer?) c.3245del (p.Gly1082ValfsTer?) c.1565del (p.Gly522ValfsTer?) | ClinVar dbSNP |
| X | g.108626333G>A | CA413855088 | COL4A5 | c.3230G>A (p.Gly1077Asp) n.2686G>A c.463G>A c.2906G>A (p.Gly969Asp) c.803G>A (p.Gly268Asp) c.3245G>A (p.Gly1082Asp) c.1565G>A (p.Gly522Asp) | |
| X | g.108626333G>C | CA413855089 | COL4A5 | c.3230G>C (p.Gly1077Ala) n.2686G>C c.463G>C c.2906G>C (p.Gly969Ala) c.803G>C (p.Gly268Ala) c.3245G>C (p.Gly1082Ala) c.1565G>C (p.Gly522Ala) | |
| X | g.108626333G>T | CA413855090 | COL4A5 | c.3230G>T (p.Gly1077Val) n.2686G>T c.463G>T c.2906G>T (p.Gly969Val) c.803G>T (p.Gly268Val) c.3245G>T (p.Gly1082Val) c.1565G>T (p.Gly522Val) | |
| X | g.108626334T>A | CA517926022 | COL4A5 | c.3231T>A (p.Gly1077=) n.2687T>A c.464T>A c.2907T>A (p.Gly969=) c.804T>A (p.Gly268=) c.3246T>A (p.Gly1082=) c.1566T>A (p.Gly522=) | |
| X | g.108626334T>C | CA517926023 | COL4A5 | c.3231T>C (p.Gly1077=) n.2687T>C c.464T>C c.2907T>C (p.Gly969=) c.804T>C (p.Gly268=) c.3246T>C (p.Gly1082=) c.1566T>C (p.Gly522=) | |
| X | g.108626334T>G | CA517926025 | COL4A5 | c.3231T>G (p.Gly1077=) n.2687T>G c.464T>G c.2907T>G (p.Gly969=) c.804T>G (p.Gly268=) c.3246T>G (p.Gly1082=) c.1566T>G (p.Gly522=) | |
| X | g.108626335C>A | CA413855091 | COL4A5 | c.3232C>A (p.Leu1078Ile) n.2688C>A c.465C>A c.2908C>A (p.Leu970Ile) c.805C>A (p.Leu269Ile) c.3247C>A (p.Leu1083Ile) c.1567C>A (p.Leu523Ile) | |
| X | g.108626335C= | CA2450697624 | COL4A5 | c.3232C= (p.Leu1078=) n.2688C= c.465C= c.2908C= (p.Leu970=) c.805C= (p.Leu269=) c.3247C= (p.Leu1083=) c.1567C= (p.Leu523=) | |
| X | g.108626335C>G | CA413855092 | COL4A5 | c.3232C>G (p.Leu1078Val) n.2688C>G c.465C>G c.2908C>G (p.Leu970Val) c.805C>G (p.Leu269Val) c.3247C>G (p.Leu1083Val) c.1567C>G (p.Leu523Val) |