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 |
|---|---|---|---|---|---|
| 18 | g.23950071G>A | CA402051961 | LAMA3 | c.4727G>A (p.Ser1576Asn) c.9554G>A (p.Ser3185Asn) c.6149G>A (p.Ser2050Asn) c.9386G>A (p.Ser3129Asn) c.4559G>A (p.Ser1520Asn) c.75G>A n.4132G>A c.9581G>A (p.Ser3194Asn) c.9572G>A (p.Ser3191Asn) c.9563G>A (p.Ser3188Asn) c.9449G>A (p.Ser3150Asn) c.9284G>A (p.Ser3095Asn) c.7433G>A (p.Ser2478Asn) c.5123G>A (p.Ser1708Asn) n.9822G>A | |
| 18 | g.23950071G>C | CA402051962 | LAMA3 | c.4727G>C (p.Ser1576Thr) c.9554G>C (p.Ser3185Thr) c.6149G>C (p.Ser2050Thr) c.9386G>C (p.Ser3129Thr) c.4559G>C (p.Ser1520Thr) c.75G>C n.4132G>C c.9581G>C (p.Ser3194Thr) c.9572G>C (p.Ser3191Thr) c.9563G>C (p.Ser3188Thr) c.9449G>C (p.Ser3150Thr) c.9284G>C (p.Ser3095Thr) c.7433G>C (p.Ser2478Thr) c.5123G>C (p.Ser1708Thr) n.9822G>C | |
| 18 | g.23950071G= | CA2290344080 | LAMA3 | c.4727G= (p.Ser1576=) c.9554G= (p.Ser3185=) c.6149G= (p.Ser2050=) c.9386G= (p.Ser3129=) c.4559G= (p.Ser1520=) c.75G= n.4132G= c.9581G= (p.Ser3194=) c.9572G= (p.Ser3191=) c.9563G= (p.Ser3188=) c.9449G= (p.Ser3150=) c.9284G= (p.Ser3095=) c.7433G= (p.Ser2478=) c.5123G= (p.Ser1708=) n.9822G= | |
| 18 | g.23950071G>T | CA402051963 | LAMA3 | c.4727G>T (p.Ser1576Ile) c.9554G>T (p.Ser3185Ile) c.6149G>T (p.Ser2050Ile) c.9386G>T (p.Ser3129Ile) c.4559G>T (p.Ser1520Ile) c.75G>T n.4132G>T c.9581G>T (p.Ser3194Ile) c.9572G>T (p.Ser3191Ile) c.9563G>T (p.Ser3188Ile) c.9449G>T (p.Ser3150Ile) c.9284G>T (p.Ser3095Ile) c.7433G>T (p.Ser2478Ile) c.5123G>T (p.Ser1708Ile) n.9822G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950072C>A | CA402051964 | LAMA3 | c.4728C>A (p.Ser1576Arg) c.9555C>A (p.Ser3185Arg) c.6150C>A (p.Ser2050Arg) c.9387C>A (p.Ser3129Arg) c.4560C>A (p.Ser1520Arg) c.76C>A n.4133C>A c.9582C>A (p.Ser3194Arg) c.9573C>A (p.Ser3191Arg) c.9564C>A (p.Ser3188Arg) c.9450C>A (p.Ser3150Arg) c.9285C>A (p.Ser3095Arg) c.7434C>A (p.Ser2478Arg) c.5124C>A (p.Ser1708Arg) n.9823C>A | |
| 18 | g.23950072C= | CA2290344083 | LAMA3 | c.4728C= (p.Ser1576=) c.9555C= (p.Ser3185=) c.6150C= (p.Ser2050=) c.9387C= (p.Ser3129=) c.4560C= (p.Ser1520=) c.76C= n.4133C= c.9582C= (p.Ser3194=) c.9573C= (p.Ser3191=) c.9564C= (p.Ser3188=) c.9450C= (p.Ser3150=) c.9285C= (p.Ser3095=) c.7434C= (p.Ser2478=) c.5124C= (p.Ser1708=) n.9823C= | |
| 18 | g.23950072C>G | CA402051965 | LAMA3 | c.4728C>G (p.Ser1576Arg) c.9555C>G (p.Ser3185Arg) c.6150C>G (p.Ser2050Arg) c.9387C>G (p.Ser3129Arg) c.4560C>G (p.Ser1520Arg) c.76C>G n.4133C>G c.9582C>G (p.Ser3194Arg) c.9573C>G (p.Ser3191Arg) c.9564C>G (p.Ser3188Arg) c.9450C>G (p.Ser3150Arg) c.9285C>G (p.Ser3095Arg) c.7434C>G (p.Ser2478Arg) c.5124C>G (p.Ser1708Arg) n.9823C>G | |
| 18 | g.23950072C>T | CA503522813 | LAMA3 | c.4728C>T (p.Ser1576=) c.9555C>T (p.Ser3185=) c.6150C>T (p.Ser2050=) c.9387C>T (p.Ser3129=) c.4560C>T (p.Ser1520=) c.76C>T n.4133C>T c.9582C>T (p.Ser3194=) c.9573C>T (p.Ser3191=) c.9564C>T (p.Ser3188=) c.9450C>T (p.Ser3150=) c.9285C>T (p.Ser3095=) c.7434C>T (p.Ser2478=) c.5124C>T (p.Ser1708=) n.9823C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950073A>C | CA402051966 | LAMA3 | c.4729A>C (p.Ile1577Leu) c.9556A>C (p.Ile3186Leu) c.6151A>C (p.Ile2051Leu) c.9388A>C (p.Ile3130Leu) c.4561A>C (p.Ile1521Leu) c.77A>C n.4134A>C c.9583A>C (p.Ile3195Leu) c.9574A>C (p.Ile3192Leu) c.9565A>C (p.Ile3189Leu) c.9451A>C (p.Ile3151Leu) c.9286A>C (p.Ile3096Leu) c.7435A>C (p.Ile2479Leu) c.5125A>C (p.Ile1709Leu) n.9824A>C | |
| 18 | g.23950073A>G | CA402051967 | LAMA3 | c.4729A>G (p.Ile1577Val) c.9556A>G (p.Ile3186Val) c.6151A>G (p.Ile2051Val) c.9388A>G (p.Ile3130Val) c.4561A>G (p.Ile1521Val) c.77A>G n.4134A>G c.9583A>G (p.Ile3195Val) c.9574A>G (p.Ile3192Val) c.9565A>G (p.Ile3189Val) c.9451A>G (p.Ile3151Val) c.9286A>G (p.Ile3096Val) c.7435A>G (p.Ile2479Val) c.5125A>G (p.Ile1709Val) n.9824A>G | |
| 18 | g.23950073A>T | CA402051968 | LAMA3 | c.4729A>T (p.Ile1577Phe) c.9556A>T (p.Ile3186Phe) c.6151A>T (p.Ile2051Phe) c.9388A>T (p.Ile3130Phe) c.4561A>T (p.Ile1521Phe) c.77A>T n.4134A>T c.9583A>T (p.Ile3195Phe) c.9574A>T (p.Ile3192Phe) c.9565A>T (p.Ile3189Phe) c.9451A>T (p.Ile3151Phe) c.9286A>T (p.Ile3096Phe) c.7435A>T (p.Ile2479Phe) c.5125A>T (p.Ile1709Phe) n.9824A>T | |
| 18 | g.23950074T>A | CA402051969 | LAMA3 | c.4730T>A (p.Ile1577Asn) c.9557T>A (p.Ile3186Asn) c.6152T>A (p.Ile2051Asn) c.9389T>A (p.Ile3130Asn) c.4562T>A (p.Ile1521Asn) c.78T>A n.4135T>A c.9584T>A (p.Ile3195Asn) c.9575T>A (p.Ile3192Asn) c.9566T>A (p.Ile3189Asn) c.9452T>A (p.Ile3151Asn) c.9287T>A (p.Ile3096Asn) c.7436T>A (p.Ile2479Asn) c.5126T>A (p.Ile1709Asn) n.9825T>A | gnomAD v4 |
| 18 | g.23950074T>C | CA402051970 | LAMA3 | c.4730T>C (p.Ile1577Thr) c.9557T>C (p.Ile3186Thr) c.6152T>C (p.Ile2051Thr) c.9389T>C (p.Ile3130Thr) c.4562T>C (p.Ile1521Thr) c.78T>C n.4135T>C c.9584T>C (p.Ile3195Thr) c.9575T>C (p.Ile3192Thr) c.9566T>C (p.Ile3189Thr) c.9452T>C (p.Ile3151Thr) c.9287T>C (p.Ile3096Thr) c.7436T>C (p.Ile2479Thr) c.5126T>C (p.Ile1709Thr) n.9825T>C | dbSNP |
| 18 | g.23950074T>G | CA402051971 | LAMA3 | c.4730T>G (p.Ile1577Ser) c.9557T>G (p.Ile3186Ser) c.6152T>G (p.Ile2051Ser) c.9389T>G (p.Ile3130Ser) c.4562T>G (p.Ile1521Ser) c.78T>G n.4135T>G c.9584T>G (p.Ile3195Ser) c.9575T>G (p.Ile3192Ser) c.9566T>G (p.Ile3189Ser) c.9452T>G (p.Ile3151Ser) c.9287T>G (p.Ile3096Ser) c.7436T>G (p.Ile2479Ser) c.5126T>G (p.Ile1709Ser) n.9825T>G | |
| 18 | g.23950074T= | CA2290344088 | LAMA3 | c.4730T= (p.Ile1577=) c.9557T= (p.Ile3186=) c.6152T= (p.Ile2051=) c.9389T= (p.Ile3130=) c.4562T= (p.Ile1521=) c.78T= n.4135T= c.9584T= (p.Ile3195=) c.9575T= (p.Ile3192=) c.9566T= (p.Ile3189=) c.9452T= (p.Ile3151=) c.9287T= (p.Ile3096=) c.7436T= (p.Ile2479=) c.5126T= (p.Ile1709=) n.9825T= | |
| 18 | g.23950075C>A | CA503522814 | LAMA3 | c.4731C>A (p.Ile1577=) c.9558C>A (p.Ile3186=) c.6153C>A (p.Ile2051=) c.9390C>A (p.Ile3130=) c.4563C>A (p.Ile1521=) c.79C>A n.4136C>A c.9585C>A (p.Ile3195=) c.9576C>A (p.Ile3192=) c.9567C>A (p.Ile3189=) c.9453C>A (p.Ile3151=) c.9288C>A (p.Ile3096=) c.7437C>A (p.Ile2479=) c.5127C>A (p.Ile1709=) n.9826C>A | |
| 18 | g.23950075C>G | CA402051972 | LAMA3 | c.4731C>G (p.Ile1577Met) c.9558C>G (p.Ile3186Met) c.6153C>G (p.Ile2051Met) c.9390C>G (p.Ile3130Met) c.4563C>G (p.Ile1521Met) c.79C>G n.4136C>G c.9585C>G (p.Ile3195Met) c.9576C>G (p.Ile3192Met) c.9567C>G (p.Ile3189Met) c.9453C>G (p.Ile3151Met) c.9288C>G (p.Ile3096Met) c.7437C>G (p.Ile2479Met) c.5127C>G (p.Ile1709Met) n.9826C>G | |
| 18 | g.23950075C>T | CA503522815 | LAMA3 | c.4731C>T (p.Ile1577=) c.9558C>T (p.Ile3186=) c.6153C>T (p.Ile2051=) c.9390C>T (p.Ile3130=) c.4563C>T (p.Ile1521=) c.79C>T n.4136C>T c.9585C>T (p.Ile3195=) c.9576C>T (p.Ile3192=) c.9567C>T (p.Ile3189=) c.9453C>T (p.Ile3151=) c.9288C>T (p.Ile3096=) c.7437C>T (p.Ile2479=) c.5127C>T (p.Ile1709=) n.9826C>T | gnomAD v4 |
| 18 | g.23950076C>A | CA402051974 | LAMA3 | c.4732C>A (p.Arg1578Ser) c.9559C>A (p.Arg3187Ser) c.6154C>A (p.Arg2052Ser) c.9391C>A (p.Arg3131Ser) c.4564C>A (p.Arg1522Ser) c.80C>A n.4137C>A c.9586C>A (p.Arg3196Ser) c.9577C>A (p.Arg3193Ser) c.9568C>A (p.Arg3190Ser) c.9454C>A (p.Arg3152Ser) c.9289C>A (p.Arg3097Ser) c.7438C>A (p.Arg2480Ser) c.5128C>A (p.Arg1710Ser) n.9827C>A | |
| 18 | g.23950076C= | CA2290344093 | LAMA3 | c.4732C= (p.Arg1578=) c.9559C= (p.Arg3187=) c.6154C= (p.Arg2052=) c.9391C= (p.Arg3131=) c.4564C= (p.Arg1522=) c.80C= n.4137C= c.9586C= (p.Arg3196=) c.9577C= (p.Arg3193=) c.9568C= (p.Arg3190=) c.9454C= (p.Arg3152=) c.9289C= (p.Arg3097=) c.7438C= (p.Arg2480=) c.5128C= (p.Arg1710=) n.9827C= | |
| 18 | g.23950076C>G | CA402051973 | LAMA3 | c.4732C>G (p.Arg1578Gly) c.9559C>G (p.Arg3187Gly) c.6154C>G (p.Arg2052Gly) c.9391C>G (p.Arg3131Gly) c.4564C>G (p.Arg1522Gly) c.80C>G n.4137C>G c.9586C>G (p.Arg3196Gly) c.9577C>G (p.Arg3193Gly) c.9568C>G (p.Arg3190Gly) c.9454C>G (p.Arg3152Gly) c.9289C>G (p.Arg3097Gly) c.7438C>G (p.Arg2480Gly) c.5128C>G (p.Arg1710Gly) n.9827C>G | |
| 18 | g.23950076C>T | CA8917227 | LAMA3 | c.4732C>T (p.Arg1578Cys) c.9559C>T (p.Arg3187Cys) c.6154C>T (p.Arg2052Cys) c.9391C>T (p.Arg3131Cys) c.4564C>T (p.Arg1522Cys) c.80C>T n.4137C>T c.9586C>T (p.Arg3196Cys) c.9577C>T (p.Arg3193Cys) c.9568C>T (p.Arg3190Cys) c.9454C>T (p.Arg3152Cys) c.9289C>T (p.Arg3097Cys) c.7438C>T (p.Arg2480Cys) c.5128C>T (p.Arg1710Cys) n.9827C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23950077G>A | CA8917228 | LAMA3 | c.4733G>A (p.Arg1578His) c.9560G>A (p.Arg3187His) c.6155G>A (p.Arg2052His) c.9392G>A (p.Arg3131His) c.4565G>A (p.Arg1522His) c.81G>A n.4138G>A c.9587G>A (p.Arg3196His) c.9578G>A (p.Arg3193His) c.9569G>A (p.Arg3190His) c.9455G>A (p.Arg3152His) c.9290G>A (p.Arg3097His) c.7439G>A (p.Arg2480His) c.5129G>A (p.Arg1710His) n.9828G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950077G>C | CA402051975 | LAMA3 | c.4733G>C (p.Arg1578Pro) c.9560G>C (p.Arg3187Pro) c.6155G>C (p.Arg2052Pro) c.9392G>C (p.Arg3131Pro) c.4565G>C (p.Arg1522Pro) c.81G>C n.4138G>C c.9587G>C (p.Arg3196Pro) c.9578G>C (p.Arg3193Pro) c.9569G>C (p.Arg3190Pro) c.9455G>C (p.Arg3152Pro) c.9290G>C (p.Arg3097Pro) c.7439G>C (p.Arg2480Pro) c.5129G>C (p.Arg1710Pro) n.9828G>C | |
| 18 | g.23950077G= | CA2290344117 | LAMA3 | c.4733G= (p.Arg1578=) c.9560G= (p.Arg3187=) c.6155G= (p.Arg2052=) c.9392G= (p.Arg3131=) c.4565G= (p.Arg1522=) c.81G= n.4138G= c.9587G= (p.Arg3196=) c.9578G= (p.Arg3193=) c.9569G= (p.Arg3190=) c.9455G= (p.Arg3152=) c.9290G= (p.Arg3097=) c.7439G= (p.Arg2480=) c.5129G= (p.Arg1710=) n.9828G= | |
| 18 | g.23950077G>T | CA402051976 | LAMA3 | c.4733G>T (p.Arg1578Leu) c.9560G>T (p.Arg3187Leu) c.6155G>T (p.Arg2052Leu) c.9392G>T (p.Arg3131Leu) c.4565G>T (p.Arg1522Leu) c.81G>T n.4138G>T c.9587G>T (p.Arg3196Leu) c.9578G>T (p.Arg3193Leu) c.9569G>T (p.Arg3190Leu) c.9455G>T (p.Arg3152Leu) c.9290G>T (p.Arg3097Leu) c.7439G>T (p.Arg2480Leu) c.5129G>T (p.Arg1710Leu) n.9828G>T | |
| 18 | g.23950078C>A | CA503522817 | LAMA3 | c.4734C>A (p.Arg1578=) c.9561C>A (p.Arg3187=) c.6156C>A (p.Arg2052=) c.9393C>A (p.Arg3131=) c.4566C>A (p.Arg1522=) c.82C>A n.4139C>A c.9588C>A (p.Arg3196=) c.9579C>A (p.Arg3193=) c.9570C>A (p.Arg3190=) c.9456C>A (p.Arg3152=) c.9291C>A (p.Arg3097=) c.7440C>A (p.Arg2480=) c.5130C>A (p.Arg1710=) n.9829C>A | ClinVar gnomAD v4 |
| 18 | g.23950078C= | CA2290344121 | LAMA3 | c.4734C= (p.Arg1578=) c.9561C= (p.Arg3187=) c.6156C= (p.Arg2052=) c.9393C= (p.Arg3131=) c.4566C= (p.Arg1522=) c.82C= n.4139C= c.9588C= (p.Arg3196=) c.9579C= (p.Arg3193=) c.9570C= (p.Arg3190=) c.9456C= (p.Arg3152=) c.9291C= (p.Arg3097=) c.7440C= (p.Arg2480=) c.5130C= (p.Arg1710=) n.9829C= | |
| 18 | g.23950078C>G | CA503522816 | LAMA3 | c.4734C>G (p.Arg1578=) c.9561C>G (p.Arg3187=) c.6156C>G (p.Arg2052=) c.9393C>G (p.Arg3131=) c.4566C>G (p.Arg1522=) c.82C>G n.4139C>G c.9588C>G (p.Arg3196=) c.9579C>G (p.Arg3193=) c.9570C>G (p.Arg3190=) c.9456C>G (p.Arg3152=) c.9291C>G (p.Arg3097=) c.7440C>G (p.Arg2480=) c.5130C>G (p.Arg1710=) n.9829C>G | |
| 18 | g.23950078C>T | CA8917229 | LAMA3 | c.4734C>T (p.Arg1578=) c.9561C>T (p.Arg3187=) c.6156C>T (p.Arg2052=) c.9393C>T (p.Arg3131=) c.4566C>T (p.Arg1522=) c.82C>T n.4139C>T c.9588C>T (p.Arg3196=) c.9579C>T (p.Arg3193=) c.9570C>T (p.Arg3190=) c.9456C>T (p.Arg3152=) c.9291C>T (p.Arg3097=) c.7440C>T (p.Arg2480=) c.5130C>T (p.Arg1710=) n.9829C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23950079C>A | CA402051977 | LAMA3 | c.4735C>A (p.Pro1579Thr) c.9562C>A (p.Pro3188Thr) c.6157C>A (p.Pro2053Thr) c.9394C>A (p.Pro3132Thr) c.4567C>A (p.Pro1523Thr) c.83C>A n.4140C>A c.9589C>A (p.Pro3197Thr) c.9580C>A (p.Pro3194Thr) c.9571C>A (p.Pro3191Thr) c.9457C>A (p.Pro3153Thr) c.9292C>A (p.Pro3098Thr) c.7441C>A (p.Pro2481Thr) c.5131C>A (p.Pro1711Thr) n.9830C>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23950079C= | CA2290344125 | LAMA3 | c.4735C= (p.Pro1579=) c.9562C= (p.Pro3188=) c.6157C= (p.Pro2053=) c.9394C= (p.Pro3132=) c.4567C= (p.Pro1523=) c.83C= n.4140C= c.9589C= (p.Pro3197=) c.9580C= (p.Pro3194=) c.9571C= (p.Pro3191=) c.9457C= (p.Pro3153=) c.9292C= (p.Pro3098=) c.7441C= (p.Pro2481=) c.5131C= (p.Pro1711=) n.9830C= | |
| 18 | g.23950079C>G | CA402051978 | LAMA3 | c.4735C>G (p.Pro1579Ala) c.9562C>G (p.Pro3188Ala) c.6157C>G (p.Pro2053Ala) c.9394C>G (p.Pro3132Ala) c.4567C>G (p.Pro1523Ala) c.83C>G n.4140C>G c.9589C>G (p.Pro3197Ala) c.9580C>G (p.Pro3194Ala) c.9571C>G (p.Pro3191Ala) c.9457C>G (p.Pro3153Ala) c.9292C>G (p.Pro3098Ala) c.7441C>G (p.Pro2481Ala) c.5131C>G (p.Pro1711Ala) n.9830C>G | |
| 18 | g.23950079C>T | CA402051979 | LAMA3 | c.4735C>T (p.Pro1579Ser) c.9562C>T (p.Pro3188Ser) c.6157C>T (p.Pro2053Ser) c.9394C>T (p.Pro3132Ser) c.4567C>T (p.Pro1523Ser) c.83C>T n.4140C>T c.9589C>T (p.Pro3197Ser) c.9580C>T (p.Pro3194Ser) c.9571C>T (p.Pro3191Ser) c.9457C>T (p.Pro3153Ser) c.9292C>T (p.Pro3098Ser) c.7441C>T (p.Pro2481Ser) c.5131C>T (p.Pro1711Ser) n.9830C>T | |
| 18 | g.23950080C>A | CA402051980 | LAMA3 | c.4736C>A (p.Pro1579Gln) c.9563C>A (p.Pro3188Gln) c.6158C>A (p.Pro2053Gln) c.9395C>A (p.Pro3132Gln) c.4568C>A (p.Pro1523Gln) c.84C>A n.4141C>A c.9590C>A (p.Pro3197Gln) c.9581C>A (p.Pro3194Gln) c.9572C>A (p.Pro3191Gln) c.9458C>A (p.Pro3153Gln) c.9293C>A (p.Pro3098Gln) c.7442C>A (p.Pro2481Gln) c.5132C>A (p.Pro1711Gln) n.9831C>A | |
| 18 | g.23950080C>G | CA402051981 | LAMA3 | c.4736C>G (p.Pro1579Arg) c.9563C>G (p.Pro3188Arg) c.6158C>G (p.Pro2053Arg) c.9395C>G (p.Pro3132Arg) c.4568C>G (p.Pro1523Arg) c.84C>G n.4141C>G c.9590C>G (p.Pro3197Arg) c.9581C>G (p.Pro3194Arg) c.9572C>G (p.Pro3191Arg) c.9458C>G (p.Pro3153Arg) c.9293C>G (p.Pro3098Arg) c.7442C>G (p.Pro2481Arg) c.5132C>G (p.Pro1711Arg) n.9831C>G | |
| 18 | g.23950080C>T | CA402051982 | LAMA3 | c.4736C>T (p.Pro1579Leu) c.9563C>T (p.Pro3188Leu) c.6158C>T (p.Pro2053Leu) c.9395C>T (p.Pro3132Leu) c.4568C>T (p.Pro1523Leu) c.84C>T n.4141C>T c.9590C>T (p.Pro3197Leu) c.9581C>T (p.Pro3194Leu) c.9572C>T (p.Pro3191Leu) c.9458C>T (p.Pro3153Leu) c.9293C>T (p.Pro3098Leu) c.7442C>T (p.Pro2481Leu) c.5132C>T (p.Pro1711Leu) n.9831C>T | |
| 18 | g.23950081A= | CA2290344126 | LAMA3 | c.4737A= (p.Pro1579=) c.9564A= (p.Pro3188=) c.6159A= (p.Pro2053=) c.9396A= (p.Pro3132=) c.4569A= (p.Pro1523=) c.85A= n.4142A= c.9591A= (p.Pro3197=) c.9582A= (p.Pro3194=) c.9573A= (p.Pro3191=) c.9459A= (p.Pro3153=) c.9294A= (p.Pro3098=) c.7443A= (p.Pro2481=) c.5133A= (p.Pro1711=) n.9832A= | |
| 18 | g.23950081A>C | CA503522818 | LAMA3 | c.4737A>C (p.Pro1579=) c.9564A>C (p.Pro3188=) c.6159A>C (p.Pro2053=) c.9396A>C (p.Pro3132=) c.4569A>C (p.Pro1523=) c.85A>C n.4142A>C c.9591A>C (p.Pro3197=) c.9582A>C (p.Pro3194=) c.9573A>C (p.Pro3191=) c.9459A>C (p.Pro3153=) c.9294A>C (p.Pro3098=) c.7443A>C (p.Pro2481=) c.5133A>C (p.Pro1711=) n.9832A>C | |
| 18 | g.23950081A>G | CA503522819 | LAMA3 | c.4737A>G (p.Pro1579=) c.9564A>G (p.Pro3188=) c.6159A>G (p.Pro2053=) c.9396A>G (p.Pro3132=) c.4569A>G (p.Pro1523=) c.85A>G n.4142A>G c.9591A>G (p.Pro3197=) c.9582A>G (p.Pro3194=) c.9573A>G (p.Pro3191=) c.9459A>G (p.Pro3153=) c.9294A>G (p.Pro3098=) c.7443A>G (p.Pro2481=) c.5133A>G (p.Pro1711=) n.9832A>G | dbSNP gnomAD v4 |
| 18 | g.23950081A>T | CA503522820 | LAMA3 | c.4737A>T (p.Pro1579=) c.9564A>T (p.Pro3188=) c.6159A>T (p.Pro2053=) c.9396A>T (p.Pro3132=) c.4569A>T (p.Pro1523=) c.85A>T n.4142A>T c.9591A>T (p.Pro3197=) c.9582A>T (p.Pro3194=) c.9573A>T (p.Pro3191=) c.9459A>T (p.Pro3153=) c.9294A>T (p.Pro3098=) c.7443A>T (p.Pro2481=) c.5133A>T (p.Pro1711=) n.9832A>T | |
| 18 | g.23950082A>C | CA503522821 | LAMA3 | c.4738A>C (p.Arg1580=) c.9565A>C (p.Arg3189=) c.6160A>C (p.Arg2054=) c.9397A>C (p.Arg3133=) c.4570A>C (p.Arg1524=) c.86A>C n.4143A>C c.9592A>C (p.Arg3198=) c.9583A>C (p.Arg3195=) c.9574A>C (p.Arg3192=) c.9460A>C (p.Arg3154=) c.9295A>C (p.Arg3099=) c.7444A>C (p.Arg2482=) c.5134A>C (p.Arg1712=) n.9833A>C | |
| 18 | g.23950082A>G | CA402051983 | LAMA3 | c.4738A>G (p.Arg1580Gly) c.9565A>G (p.Arg3189Gly) c.6160A>G (p.Arg2054Gly) c.9397A>G (p.Arg3133Gly) c.4570A>G (p.Arg1524Gly) c.86A>G n.4143A>G c.9592A>G (p.Arg3198Gly) c.9583A>G (p.Arg3195Gly) c.9574A>G (p.Arg3192Gly) c.9460A>G (p.Arg3154Gly) c.9295A>G (p.Arg3099Gly) c.7444A>G (p.Arg2482Gly) c.5134A>G (p.Arg1712Gly) n.9833A>G | |
| 18 | g.23950082A>T | CA402051984 | LAMA3 | c.4738A>T (p.Arg1580Ter) c.9565A>T (p.Arg3189Ter) c.6160A>T (p.Arg2054Ter) c.9397A>T (p.Arg3133Ter) c.4570A>T (p.Arg1524Ter) c.86A>T n.4143A>T c.9592A>T (p.Arg3198Ter) c.9583A>T (p.Arg3195Ter) c.9574A>T (p.Arg3192Ter) c.9460A>T (p.Arg3154Ter) c.9295A>T (p.Arg3099Ter) c.7444A>T (p.Arg2482Ter) c.5134A>T (p.Arg1712Ter) n.9833A>T | |
| 18 | g.23950083G>A | CA402051987 | LAMA3 | c.4739G>A (p.Arg1580Lys) c.9566G>A (p.Arg3189Lys) c.6161G>A (p.Arg2054Lys) c.9398G>A (p.Arg3133Lys) c.4571G>A (p.Arg1524Lys) c.87G>A n.4144G>A c.9593G>A (p.Arg3198Lys) c.9584G>A (p.Arg3195Lys) c.9575G>A (p.Arg3192Lys) c.9461G>A (p.Arg3154Lys) c.9296G>A (p.Arg3099Lys) c.7445G>A (p.Arg2482Lys) c.5135G>A (p.Arg1712Lys) n.9834G>A | |
| 18 | g.23950083G>C | CA402051986 | LAMA3 | c.4739G>C (p.Arg1580Thr) c.9566G>C (p.Arg3189Thr) c.6161G>C (p.Arg2054Thr) c.9398G>C (p.Arg3133Thr) c.4571G>C (p.Arg1524Thr) c.87G>C n.4144G>C c.9593G>C (p.Arg3198Thr) c.9584G>C (p.Arg3195Thr) c.9575G>C (p.Arg3192Thr) c.9461G>C (p.Arg3154Thr) c.9296G>C (p.Arg3099Thr) c.7445G>C (p.Arg2482Thr) c.5135G>C (p.Arg1712Thr) n.9834G>C | gnomAD v4 |
| 18 | g.23950083G>T | CA402051985 | LAMA3 | c.4739G>T (p.Arg1580Ile) c.9566G>T (p.Arg3189Ile) c.6161G>T (p.Arg2054Ile) c.9398G>T (p.Arg3133Ile) c.4571G>T (p.Arg1524Ile) c.87G>T n.4144G>T c.9593G>T (p.Arg3198Ile) c.9584G>T (p.Arg3195Ile) c.9575G>T (p.Arg3192Ile) c.9461G>T (p.Arg3154Ile) c.9296G>T (p.Arg3099Ile) c.7445G>T (p.Arg2482Ile) c.5135G>T (p.Arg1712Ile) n.9834G>T | |
| 18 | g.23950084A>C | CA402051988 | LAMA3 | c.4740A>C (p.Arg1580Ser) c.9567A>C (p.Arg3189Ser) c.6162A>C (p.Arg2054Ser) c.9399A>C (p.Arg3133Ser) c.4572A>C (p.Arg1524Ser) c.88A>C n.4145A>C c.9594A>C (p.Arg3198Ser) c.9585A>C (p.Arg3195Ser) c.9576A>C (p.Arg3192Ser) c.9462A>C (p.Arg3154Ser) c.9297A>C (p.Arg3099Ser) c.7446A>C (p.Arg2482Ser) c.5136A>C (p.Arg1712Ser) n.9835A>C | |
| 18 | g.23950084A>G | CA503522822 | LAMA3 | c.4740A>G (p.Arg1580=) c.9567A>G (p.Arg3189=) c.6162A>G (p.Arg2054=) c.9399A>G (p.Arg3133=) c.4572A>G (p.Arg1524=) c.88A>G n.4145A>G c.9594A>G (p.Arg3198=) c.9585A>G (p.Arg3195=) c.9576A>G (p.Arg3192=) c.9462A>G (p.Arg3154=) c.9297A>G (p.Arg3099=) c.7446A>G (p.Arg2482=) c.5136A>G (p.Arg1712=) n.9835A>G | ClinVar |
| 18 | g.23950084A>T | CA402051989 | LAMA3 | c.4740A>T (p.Arg1580Ser) c.9567A>T (p.Arg3189Ser) c.6162A>T (p.Arg2054Ser) c.9399A>T (p.Arg3133Ser) c.4572A>T (p.Arg1524Ser) c.88A>T n.4145A>T c.9594A>T (p.Arg3198Ser) c.9585A>T (p.Arg3195Ser) c.9576A>T (p.Arg3192Ser) c.9462A>T (p.Arg3154Ser) c.9297A>T (p.Arg3099Ser) c.7446A>T (p.Arg2482Ser) c.5136A>T (p.Arg1712Ser) n.9835A>T |