WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687547A>C | CA413854124 | COL4A5 | c.4381A>C (p.Thr1461Pro) c.4363A>C (p.Thr1455Pro) n.875A>C c.177A>C c.4372A>C (p.Thr1458Pro) c.4057A>C (p.Thr1353Pro) c.1954A>C (p.Thr652Pro) c.4396A>C (p.Thr1466Pro) c.4387A>C (p.Thr1463Pro) c.4378A>C (p.Thr1460Pro) c.2716A>C (p.Thr906Pro) | |
| X | g.108687547A>G | CA413854129 | COL4A5 | c.4381A>G (p.Thr1461Ala) c.4363A>G (p.Thr1455Ala) n.875A>G c.177A>G c.4372A>G (p.Thr1458Ala) c.4057A>G (p.Thr1353Ala) c.1954A>G (p.Thr652Ala) c.4396A>G (p.Thr1466Ala) c.4387A>G (p.Thr1463Ala) c.4378A>G (p.Thr1460Ala) c.2716A>G (p.Thr906Ala) | |
| X | g.108687547A>T | CA413854131 | COL4A5 | c.4381A>T (p.Thr1461Ser) c.4363A>T (p.Thr1455Ser) n.875A>T c.177A>T c.4372A>T (p.Thr1458Ser) c.4057A>T (p.Thr1353Ser) c.1954A>T (p.Thr652Ser) c.4396A>T (p.Thr1466Ser) c.4387A>T (p.Thr1463Ser) c.4378A>T (p.Thr1460Ser) c.2716A>T (p.Thr906Ser) | |
| X | g.108687548C>A | CA413854133 | COL4A5 | c.4382C>A (p.Thr1461Asn) c.4364C>A (p.Thr1455Asn) n.876C>A c.178C>A c.4373C>A (p.Thr1458Asn) c.4058C>A (p.Thr1353Asn) c.1955C>A (p.Thr652Asn) c.4397C>A (p.Thr1466Asn) c.4388C>A (p.Thr1463Asn) c.4379C>A (p.Thr1460Asn) c.2717C>A (p.Thr906Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687548C= | CA2450719255 | COL4A5 | c.4382C= (p.Thr1461=) c.4364C= (p.Thr1455=) n.876C= c.178C= c.4373C= (p.Thr1458=) c.4058C= (p.Thr1353=) c.1955C= (p.Thr652=) c.4397C= (p.Thr1466=) c.4388C= (p.Thr1463=) c.4379C= (p.Thr1460=) c.2717C= (p.Thr906=) | |
| X | g.108687548C>G | CA413854135 | COL4A5 | c.4382C>G (p.Thr1461Ser) c.4364C>G (p.Thr1455Ser) n.876C>G c.178C>G c.4373C>G (p.Thr1458Ser) c.4058C>G (p.Thr1353Ser) c.1955C>G (p.Thr652Ser) c.4397C>G (p.Thr1466Ser) c.4388C>G (p.Thr1463Ser) c.4379C>G (p.Thr1460Ser) c.2717C>G (p.Thr906Ser) | |
| X | g.108687548C>T | CA413854138 | COL4A5 | c.4382C>T (p.Thr1461Ile) c.4364C>T (p.Thr1455Ile) n.876C>T c.178C>T c.4373C>T (p.Thr1458Ile) c.4058C>T (p.Thr1353Ile) c.1955C>T (p.Thr652Ile) c.4397C>T (p.Thr1466Ile) c.4388C>T (p.Thr1463Ile) c.4379C>T (p.Thr1460Ile) c.2717C>T (p.Thr906Ile) | |
| X | g.108687549C>A | CA517924525 | COL4A5 | c.4383C>A (p.Thr1461=) c.4365C>A (p.Thr1455=) n.877C>A c.179C>A c.4374C>A (p.Thr1458=) c.4059C>A (p.Thr1353=) c.1956C>A (p.Thr652=) c.4398C>A (p.Thr1466=) c.4389C>A (p.Thr1463=) c.4380C>A (p.Thr1460=) c.2718C>A (p.Thr906=) | |
| X | g.108687549C>G | CA517924526 | COL4A5 | c.4383C>G (p.Thr1461=) c.4365C>G (p.Thr1455=) n.877C>G c.179C>G c.4374C>G (p.Thr1458=) c.4059C>G (p.Thr1353=) c.1956C>G (p.Thr652=) c.4398C>G (p.Thr1466=) c.4389C>G (p.Thr1463=) c.4380C>G (p.Thr1460=) c.2718C>G (p.Thr906=) | |
| X | g.108687549C>T | CA517924527 | COL4A5 | c.4383C>T (p.Thr1461=) c.4365C>T (p.Thr1455=) n.877C>T c.179C>T c.4374C>T (p.Thr1458=) c.4059C>T (p.Thr1353=) c.1956C>T (p.Thr652=) c.4398C>T (p.Thr1466=) c.4389C>T (p.Thr1463=) c.4380C>T (p.Thr1460=) c.2718C>T (p.Thr906=) | ClinVar |
| X | g.108687550T>A | CA413854141 | COL4A5 | c.4384T>A (p.Ser1462Thr) c.4366T>A (p.Ser1456Thr) n.878T>A c.180T>A c.4375T>A (p.Ser1459Thr) c.4060T>A (p.Ser1354Thr) c.1957T>A (p.Ser653Thr) c.4399T>A (p.Ser1467Thr) c.4390T>A (p.Ser1464Thr) c.4381T>A (p.Ser1461Thr) c.2719T>A (p.Ser907Thr) | dbSNP |
| X | g.108687550T>C | CA413854144 | COL4A5 | c.4384T>C (p.Ser1462Pro) c.4366T>C (p.Ser1456Pro) n.878T>C c.180T>C c.4375T>C (p.Ser1459Pro) c.4060T>C (p.Ser1354Pro) c.1957T>C (p.Ser653Pro) c.4399T>C (p.Ser1467Pro) c.4390T>C (p.Ser1464Pro) c.4381T>C (p.Ser1461Pro) c.2719T>C (p.Ser907Pro) | |
| X | g.108687550T>G | CA413854147 | COL4A5 | c.4384T>G (p.Ser1462Ala) c.4366T>G (p.Ser1456Ala) n.878T>G c.180T>G c.4375T>G (p.Ser1459Ala) c.4060T>G (p.Ser1354Ala) c.1957T>G (p.Ser653Ala) c.4399T>G (p.Ser1467Ala) c.4390T>G (p.Ser1464Ala) c.4381T>G (p.Ser1461Ala) c.2719T>G (p.Ser907Ala) | |
| X | g.108687550T= | CA2450719257 | COL4A5 | c.4384T= (p.Ser1462=) c.4366T= (p.Ser1456=) n.878T= c.180T= c.4375T= (p.Ser1459=) c.4060T= (p.Ser1354=) c.1957T= (p.Ser653=) c.4399T= (p.Ser1467=) c.4390T= (p.Ser1464=) c.4381T= (p.Ser1461=) c.2719T= (p.Ser907=) | |
| X | g.108687551C>A | CA413854148 | COL4A5 | c.4385C>A (p.Ser1462Tyr) c.4367C>A (p.Ser1456Tyr) n.879C>A c.181C>A c.4376C>A (p.Ser1459Tyr) c.4061C>A (p.Ser1354Tyr) c.1958C>A (p.Ser653Tyr) c.4400C>A (p.Ser1467Tyr) c.4391C>A (p.Ser1464Tyr) c.4382C>A (p.Ser1461Tyr) c.2720C>A (p.Ser907Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687551C= | CA2450719258 | COL4A5 | c.4385C= (p.Ser1462=) c.4367C= (p.Ser1456=) n.879C= c.181C= c.4376C= (p.Ser1459=) c.4061C= (p.Ser1354=) c.1958C= (p.Ser653=) c.4400C= (p.Ser1467=) c.4391C= (p.Ser1464=) c.4382C= (p.Ser1461=) c.2720C= (p.Ser907=) | |
| X | g.108687551C>G | CA413854149 | COL4A5 | c.4385C>G (p.Ser1462Cys) c.4367C>G (p.Ser1456Cys) n.879C>G c.181C>G c.4376C>G (p.Ser1459Cys) c.4061C>G (p.Ser1354Cys) c.1958C>G (p.Ser653Cys) c.4400C>G (p.Ser1467Cys) c.4391C>G (p.Ser1464Cys) c.4382C>G (p.Ser1461Cys) c.2720C>G (p.Ser907Cys) | |
| X | g.108687551C>T | CA413854151 | COL4A5 | c.4385C>T (p.Ser1462Phe) c.4367C>T (p.Ser1456Phe) n.879C>T c.181C>T c.4376C>T (p.Ser1459Phe) c.4061C>T (p.Ser1354Phe) c.1958C>T (p.Ser653Phe) c.4400C>T (p.Ser1467Phe) c.4391C>T (p.Ser1464Phe) c.4382C>T (p.Ser1461Phe) c.2720C>T (p.Ser907Phe) | gnomAD v4 |
| X | g.108687552C>A | CA517924530 | COL4A5 | c.4386C>A (p.Ser1462=) c.4368C>A (p.Ser1456=) n.880C>A c.182C>A c.4377C>A (p.Ser1459=) c.4062C>A (p.Ser1354=) c.1959C>A (p.Ser653=) c.4401C>A (p.Ser1467=) c.4392C>A (p.Ser1464=) c.4383C>A (p.Ser1461=) c.2721C>A (p.Ser907=) | |
| X | g.108687552C>G | CA517924533 | COL4A5 | c.4386C>G (p.Ser1462=) c.4368C>G (p.Ser1456=) n.880C>G c.182C>G c.4377C>G (p.Ser1459=) c.4062C>G (p.Ser1354=) c.1959C>G (p.Ser653=) c.4401C>G (p.Ser1467=) c.4392C>G (p.Ser1464=) c.4383C>G (p.Ser1461=) c.2721C>G (p.Ser907=) | |
| X | g.108687552C>T | CA517924532 | COL4A5 | c.4386C>T (p.Ser1462=) c.4368C>T (p.Ser1456=) n.880C>T c.182C>T c.4377C>T (p.Ser1459=) c.4062C>T (p.Ser1354=) c.1959C>T (p.Ser653=) c.4401C>T (p.Ser1467=) c.4392C>T (p.Ser1464=) c.4383C>T (p.Ser1461=) c.2721C>T (p.Ser907=) | ClinVar |
| X | g.108687553T>A | CA413854156 | COL4A5 | c.4387T>A (p.Ser1463Thr) c.4369T>A (p.Ser1457Thr) n.881T>A c.183T>A c.4378T>A (p.Ser1460Thr) c.4063T>A (p.Ser1355Thr) c.1960T>A (p.Ser654Thr) c.4402T>A (p.Ser1468Thr) c.4393T>A (p.Ser1465Thr) c.4384T>A (p.Ser1462Thr) c.2722T>A (p.Ser908Thr) | |
| X | g.108687553T>C | CA413854155 | COL4A5 | c.4387T>C (p.Ser1463Pro) c.4369T>C (p.Ser1457Pro) n.881T>C c.183T>C c.4378T>C (p.Ser1460Pro) c.4063T>C (p.Ser1355Pro) c.1960T>C (p.Ser654Pro) c.4402T>C (p.Ser1468Pro) c.4393T>C (p.Ser1465Pro) c.4384T>C (p.Ser1462Pro) c.2722T>C (p.Ser908Pro) | |
| X | g.108687553T>G | CA413854153 | COL4A5 | c.4387T>G (p.Ser1463Ala) c.4369T>G (p.Ser1457Ala) n.881T>G c.183T>G c.4378T>G (p.Ser1460Ala) c.4063T>G (p.Ser1355Ala) c.1960T>G (p.Ser654Ala) c.4402T>G (p.Ser1468Ala) c.4393T>G (p.Ser1465Ala) c.4384T>G (p.Ser1462Ala) c.2722T>G (p.Ser908Ala) | |
| X | g.108687554C>A | CA413854159 | COL4A5 | c.4388C>A (p.Ser1463Tyr) c.4370C>A (p.Ser1457Tyr) n.882C>A c.184C>A c.4379C>A (p.Ser1460Tyr) c.4064C>A (p.Ser1355Tyr) c.1961C>A (p.Ser654Tyr) c.4403C>A (p.Ser1468Tyr) c.4394C>A (p.Ser1465Tyr) c.4385C>A (p.Ser1462Tyr) c.2723C>A (p.Ser908Tyr) | |
| X | g.108687554C= | CA2450719260 | COL4A5 | c.4388C= (p.Ser1463=) c.4370C= (p.Ser1457=) n.882C= c.184C= c.4379C= (p.Ser1460=) c.4064C= (p.Ser1355=) c.1961C= (p.Ser654=) c.4403C= (p.Ser1468=) c.4394C= (p.Ser1465=) c.4385C= (p.Ser1462=) c.2723C= (p.Ser908=) | |
| X | g.108687554C>G | CA413854160 | COL4A5 | c.4388C>G (p.Ser1463Cys) c.4370C>G (p.Ser1457Cys) n.882C>G c.184C>G c.4379C>G (p.Ser1460Cys) c.4064C>G (p.Ser1355Cys) c.1961C>G (p.Ser654Cys) c.4403C>G (p.Ser1468Cys) c.4394C>G (p.Ser1465Cys) c.4385C>G (p.Ser1462Cys) c.2723C>G (p.Ser908Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687554C>T | CA413854164 | COL4A5 | c.4388C>T (p.Ser1463Phe) c.4370C>T (p.Ser1457Phe) n.882C>T c.184C>T c.4379C>T (p.Ser1460Phe) c.4064C>T (p.Ser1355Phe) c.1961C>T (p.Ser654Phe) c.4403C>T (p.Ser1468Phe) c.4394C>T (p.Ser1465Phe) c.4385C>T (p.Ser1462Phe) c.2723C>T (p.Ser908Phe) | gnomAD v4 |
| X | g.108687555T>A | CA517924534 | COL4A5 | c.4389T>A (p.Ser1463=) c.4371T>A (p.Ser1457=) n.883T>A c.185T>A c.4380T>A (p.Ser1460=) c.4065T>A (p.Ser1355=) c.1962T>A (p.Ser654=) c.4404T>A (p.Ser1468=) c.4395T>A (p.Ser1465=) c.4386T>A (p.Ser1462=) c.2724T>A (p.Ser908=) | |
| X | g.108687555T>C | CA334059118 | COL4A5 | c.4389T>C (p.Ser1463=) c.4371T>C (p.Ser1457=) n.883T>C c.185T>C c.4380T>C (p.Ser1460=) c.4065T>C (p.Ser1355=) c.1962T>C (p.Ser654=) c.4404T>C (p.Ser1468=) c.4395T>C (p.Ser1465=) c.4386T>C (p.Ser1462=) c.2724T>C (p.Ser908=) | ClinVar dbSNP |
| X | g.108687555T>G | CA517924536 | COL4A5 | c.4389T>G (p.Ser1463=) c.4371T>G (p.Ser1457=) n.883T>G c.185T>G c.4380T>G (p.Ser1460=) c.4065T>G (p.Ser1355=) c.1962T>G (p.Ser654=) c.4404T>G (p.Ser1468=) c.4395T>G (p.Ser1465=) c.4386T>G (p.Ser1462=) c.2724T>G (p.Ser908=) | |
| X | g.108687555T= | CA2450719262 | COL4A5 | c.4389T= (p.Ser1463=) c.4371T= (p.Ser1457=) n.883T= c.185T= c.4380T= (p.Ser1460=) c.4065T= (p.Ser1355=) c.1962T= (p.Ser654=) c.4404T= (p.Ser1468=) c.4395T= (p.Ser1465=) c.4386T= (p.Ser1462=) c.2724T= (p.Ser908=) | |
| X | g.108687555dup | CA913190509 | COL4A5 | c.4389dup (p.Val1464CysfsTer28) c.4371dup (p.Val1458CysfsTer28) n.883dup c.185dup c.4380dup (p.Val1461CysfsTer28) c.4065dup (p.Val1356CysfsTer28) c.1962dup (p.Val655CysfsTer28) c.4404dup (p.Val1469CysfsTer28) c.4395dup (p.Val1466CysfsTer28) c.4386dup (p.Val1463CysfsTer28) c.2724dup (p.Val909CysfsTer28) | ClinVar dbSNP gnomAD v4 |
| X | g.108687556_108687557del | CA2579677162 | COL4A5 | c.4390_4391del (p.Val1464CysfsTer27) c.4372_4373del (p.Val1458CysfsTer27) n.884_885del c.186_187del c.4381_4382del (p.Val1461CysfsTer27) c.4066_4067del (p.Val1356CysfsTer27) c.1963_1964del (p.Val655CysfsTer27) c.4405_4406del (p.Val1469CysfsTer27) c.4396_4397del (p.Val1466CysfsTer27) c.4387_4388del (p.Val1463CysfsTer27) c.2725_2726del (p.Val909CysfsTer27) | |
| X | g.108687556G>A | CA413854165 | COL4A5 | c.4390G>A (p.Val1464Ile) c.4372G>A (p.Val1458Ile) n.884G>A c.186G>A c.4381G>A (p.Val1461Ile) c.4066G>A (p.Val1356Ile) c.1963G>A (p.Val655Ile) c.4405G>A (p.Val1469Ile) c.4396G>A (p.Val1466Ile) c.4387G>A (p.Val1463Ile) c.2725G>A (p.Val909Ile) | |
| X | g.108687556G>C | CA413854166 | COL4A5 | c.4390G>C (p.Val1464Leu) c.4372G>C (p.Val1458Leu) n.884G>C c.186G>C c.4381G>C (p.Val1461Leu) c.4066G>C (p.Val1356Leu) c.1963G>C (p.Val655Leu) c.4405G>C (p.Val1469Leu) c.4396G>C (p.Val1466Leu) c.4387G>C (p.Val1463Leu) c.2725G>C (p.Val909Leu) | |
| X | g.108687556G>T | CA413854167 | COL4A5 | c.4390G>T (p.Val1464Phe) c.4372G>T (p.Val1458Phe) n.884G>T c.186G>T c.4381G>T (p.Val1461Phe) c.4066G>T (p.Val1356Phe) c.1963G>T (p.Val655Phe) c.4405G>T (p.Val1469Phe) c.4396G>T (p.Val1466Phe) c.4387G>T (p.Val1463Phe) c.2725G>T (p.Val909Phe) | |
| X | g.108687556dup | CA2695235235 | COL4A5 | c.4390dup (p.Val1464GlyfsTer28) c.4372dup (p.Val1458GlyfsTer28) n.884dup c.186dup c.4381dup (p.Val1461GlyfsTer28) c.4066dup (p.Val1356GlyfsTer28) c.1963dup (p.Val655GlyfsTer28) c.4405dup (p.Val1469GlyfsTer28) c.4396dup (p.Val1466GlyfsTer28) c.4387dup (p.Val1463GlyfsTer28) c.2725dup (p.Val909GlyfsTer28) | |
| X | g.108687557T>A | CA413854168 | COL4A5 | c.4391T>A (p.Val1464Asp) c.4373T>A (p.Val1458Asp) n.885T>A c.187T>A c.4382T>A (p.Val1461Asp) c.4067T>A (p.Val1356Asp) c.1964T>A (p.Val655Asp) c.4406T>A (p.Val1469Asp) c.4397T>A (p.Val1466Asp) c.4388T>A (p.Val1463Asp) c.2726T>A (p.Val909Asp) | |
| X | g.108687557T>C | CA413854169 | COL4A5 | c.4391T>C (p.Val1464Ala) c.4373T>C (p.Val1458Ala) n.885T>C c.187T>C c.4382T>C (p.Val1461Ala) c.4067T>C (p.Val1356Ala) c.1964T>C (p.Val655Ala) c.4406T>C (p.Val1469Ala) c.4397T>C (p.Val1466Ala) c.4388T>C (p.Val1463Ala) c.2726T>C (p.Val909Ala) | gnomAD v4 |
| X | g.108687557T>G | CA413854170 | COL4A5 | c.4391T>G (p.Val1464Gly) c.4373T>G (p.Val1458Gly) n.885T>G c.187T>G c.4382T>G (p.Val1461Gly) c.4067T>G (p.Val1356Gly) c.1964T>G (p.Val655Gly) c.4406T>G (p.Val1469Gly) c.4397T>G (p.Val1466Gly) c.4388T>G (p.Val1463Gly) c.2726T>G (p.Val909Gly) | |
| X | g.108687558T>A | CA517924538 | COL4A5 | c.4392T>A (p.Val1464=) c.4374T>A (p.Val1458=) n.886T>A c.188T>A c.4383T>A (p.Val1461=) c.4068T>A (p.Val1356=) c.1965T>A (p.Val655=) c.4407T>A (p.Val1469=) c.4398T>A (p.Val1466=) c.4389T>A (p.Val1463=) c.2727T>A (p.Val909=) | |
| X | g.108687558T>C | CA517924540 | COL4A5 | c.4392T>C (p.Val1464=) c.4374T>C (p.Val1458=) n.886T>C c.188T>C c.4383T>C (p.Val1461=) c.4068T>C (p.Val1356=) c.1965T>C (p.Val655=) c.4407T>C (p.Val1469=) c.4398T>C (p.Val1466=) c.4389T>C (p.Val1463=) c.2727T>C (p.Val909=) | ClinVar gnomAD v4 |
| X | g.108687558T>G | CA517924542 | COL4A5 | c.4392T>G (p.Val1464=) c.4374T>G (p.Val1458=) n.886T>G c.188T>G c.4383T>G (p.Val1461=) c.4068T>G (p.Val1356=) c.1965T>G (p.Val655=) c.4407T>G (p.Val1469=) c.4398T>G (p.Val1466=) c.4389T>G (p.Val1463=) c.2727T>G (p.Val909=) | |
| X | g.108687559G>A | CA413854171 | COL4A5 | c.4393G>A (p.Ala1465Thr) c.4375G>A (p.Ala1459Thr) n.887G>A c.189G>A c.4384G>A (p.Ala1462Thr) c.4069G>A (p.Ala1357Thr) c.1966G>A (p.Ala656Thr) c.4408G>A (p.Ala1470Thr) c.4399G>A (p.Ala1467Thr) c.4390G>A (p.Ala1464Thr) c.2728G>A (p.Ala910Thr) | ClinVar dbSNP |
| X | g.108687559G>C | CA413854172 | COL4A5 | c.4393G>C (p.Ala1465Pro) c.4375G>C (p.Ala1459Pro) n.887G>C c.189G>C c.4384G>C (p.Ala1462Pro) c.4069G>C (p.Ala1357Pro) c.1966G>C (p.Ala656Pro) c.4408G>C (p.Ala1470Pro) c.4399G>C (p.Ala1467Pro) c.4390G>C (p.Ala1464Pro) c.2728G>C (p.Ala910Pro) | |
| X | g.108687559G>T | CA413854173 | COL4A5 | c.4393G>T (p.Ala1465Ser) c.4375G>T (p.Ala1459Ser) n.887G>T c.189G>T c.4384G>T (p.Ala1462Ser) c.4069G>T (p.Ala1357Ser) c.1966G>T (p.Ala656Ser) c.4408G>T (p.Ala1470Ser) c.4399G>T (p.Ala1467Ser) c.4390G>T (p.Ala1464Ser) c.2728G>T (p.Ala910Ser) | |
| X | g.108687560C>A | CA413854175 | COL4A5 | c.4394C>A (p.Ala1465Glu) c.4376C>A (p.Ala1459Glu) n.888C>A c.190C>A c.4385C>A (p.Ala1462Glu) c.4070C>A (p.Ala1357Glu) c.1967C>A (p.Ala656Glu) c.4409C>A (p.Ala1470Glu) c.4400C>A (p.Ala1467Glu) c.4391C>A (p.Ala1464Glu) c.2729C>A (p.Ala910Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687560C= | CA2450719063 | COL4A5 | c.4394C= (p.Ala1465=) c.4376C= (p.Ala1459=) n.888C= c.190C= c.4385C= (p.Ala1462=) c.4070C= (p.Ala1357=) c.1967C= (p.Ala656=) c.4409C= (p.Ala1470=) c.4400C= (p.Ala1467=) c.4391C= (p.Ala1464=) c.2729C= (p.Ala910=) | |
| X | g.108687560C>G | CA413854179 | COL4A5 | c.4394C>G (p.Ala1465Gly) c.4376C>G (p.Ala1459Gly) n.888C>G c.190C>G c.4385C>G (p.Ala1462Gly) c.4070C>G (p.Ala1357Gly) c.1967C>G (p.Ala656Gly) c.4409C>G (p.Ala1470Gly) c.4400C>G (p.Ala1467Gly) c.4391C>G (p.Ala1464Gly) c.2729C>G (p.Ala910Gly) |