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.108687575T>A | CA413854236 | COL4A5 | c.4409T>A (p.Ile1470Asn) c.4391T>A (p.Ile1464Asn) n.903T>A c.205T>A c.4400T>A (p.Ile1467Asn) c.4085T>A (p.Ile1362Asn) c.1982T>A (p.Ile661Asn) c.4424T>A (p.Ile1475Asn) c.4415T>A (p.Ile1472Asn) c.4406T>A (p.Ile1469Asn) c.2744T>A (p.Ile915Asn) | |
| X | g.108687575T>C | CA413854234 | COL4A5 | c.4409T>C (p.Ile1470Thr) c.4391T>C (p.Ile1464Thr) n.903T>C c.205T>C c.4400T>C (p.Ile1467Thr) c.4085T>C (p.Ile1362Thr) c.1982T>C (p.Ile661Thr) c.4424T>C (p.Ile1475Thr) c.4415T>C (p.Ile1472Thr) c.4406T>C (p.Ile1469Thr) c.2744T>C (p.Ile915Thr) | |
| X | g.108687575T>G | CA413854233 | COL4A5 | c.4409T>G (p.Ile1470Ser) c.4391T>G (p.Ile1464Ser) n.903T>G c.205T>G c.4400T>G (p.Ile1467Ser) c.4085T>G (p.Ile1362Ser) c.1982T>G (p.Ile661Ser) c.4424T>G (p.Ile1475Ser) c.4415T>G (p.Ile1472Ser) c.4406T>G (p.Ile1469Ser) c.2744T>G (p.Ile915Ser) | |
| X | g.108687576del | CA2580100171 | COL4A5 | c.4410del (p.Thr1471HisfsTer?) c.4392del (p.Thr1465HisfsTer?) n.904del c.206del c.4401del (p.Thr1468HisfsTer?) c.4086del (p.Thr1363HisfsTer?) c.1983del (p.Thr662HisfsTer?) c.4425del (p.Thr1476HisfsTer?) c.4416del (p.Thr1473HisfsTer?) c.4407del (p.Thr1470HisfsTer?) c.2745del (p.Thr916HisfsTer?) | ClinVar |
| X | g.108687576T>A | CA517924559 | COL4A5 | c.4410T>A (p.Ile1470=) c.4392T>A (p.Ile1464=) n.904T>A c.206T>A c.4401T>A (p.Ile1467=) c.4086T>A (p.Ile1362=) c.1983T>A (p.Ile661=) c.4425T>A (p.Ile1475=) c.4416T>A (p.Ile1472=) c.4407T>A (p.Ile1469=) c.2745T>A (p.Ile915=) | |
| X | g.108687576T>C | CA517924560 | COL4A5 | c.4410T>C (p.Ile1470=) c.4392T>C (p.Ile1464=) n.904T>C c.206T>C c.4401T>C (p.Ile1467=) c.4086T>C (p.Ile1362=) c.1983T>C (p.Ile661=) c.4425T>C (p.Ile1475=) c.4416T>C (p.Ile1472=) c.4407T>C (p.Ile1469=) c.2745T>C (p.Ile915=) | |
| X | g.108687576T>G | CA413854237 | COL4A5 | c.4410T>G (p.Ile1470Met) c.4392T>G (p.Ile1464Met) n.904T>G c.206T>G c.4401T>G (p.Ile1467Met) c.4086T>G (p.Ile1362Met) c.1983T>G (p.Ile661Met) c.4425T>G (p.Ile1475Met) c.4416T>G (p.Ile1472Met) c.4407T>G (p.Ile1469Met) c.2745T>G (p.Ile915Met) | |
| X | g.108687577A>C | CA413854239 | COL4A5 | c.4411A>C (p.Thr1471Pro) c.4393A>C (p.Thr1465Pro) n.905A>C c.207A>C c.4402A>C (p.Thr1468Pro) c.4087A>C (p.Thr1363Pro) c.1984A>C (p.Thr662Pro) c.4426A>C (p.Thr1476Pro) c.4417A>C (p.Thr1473Pro) c.4408A>C (p.Thr1470Pro) c.2746A>C (p.Thr916Pro) | |
| X | g.108687577A>G | CA413854240 | COL4A5 | c.4411A>G (p.Thr1471Ala) c.4393A>G (p.Thr1465Ala) n.905A>G c.207A>G c.4402A>G (p.Thr1468Ala) c.4087A>G (p.Thr1363Ala) c.1984A>G (p.Thr662Ala) c.4426A>G (p.Thr1476Ala) c.4417A>G (p.Thr1473Ala) c.4408A>G (p.Thr1470Ala) c.2746A>G (p.Thr916Ala) | |
| X | g.108687577A>T | CA413854241 | COL4A5 | c.4411A>T (p.Thr1471Ser) c.4393A>T (p.Thr1465Ser) n.905A>T c.207A>T c.4402A>T (p.Thr1468Ser) c.4087A>T (p.Thr1363Ser) c.1984A>T (p.Thr662Ser) c.4426A>T (p.Thr1476Ser) c.4417A>T (p.Thr1473Ser) c.4408A>T (p.Thr1470Ser) c.2746A>T (p.Thr916Ser) | |
| X | g.108687578C>A | CA413854242 | COL4A5 | c.4412C>A (p.Thr1471Lys) c.4394C>A (p.Thr1465Lys) n.906C>A c.208C>A c.4403C>A (p.Thr1468Lys) c.4088C>A (p.Thr1363Lys) c.1985C>A (p.Thr662Lys) c.4427C>A (p.Thr1476Lys) c.4418C>A (p.Thr1473Lys) c.4409C>A (p.Thr1470Lys) c.2747C>A (p.Thr916Lys) | |
| X | g.108687578C>G | CA413854243 | COL4A5 | c.4412C>G (p.Thr1471Arg) c.4394C>G (p.Thr1465Arg) n.906C>G c.208C>G c.4403C>G (p.Thr1468Arg) c.4088C>G (p.Thr1363Arg) c.1985C>G (p.Thr662Arg) c.4427C>G (p.Thr1476Arg) c.4418C>G (p.Thr1473Arg) c.4409C>G (p.Thr1470Arg) c.2747C>G (p.Thr916Arg) | |
| X | g.108687578C>T | CA413854244 | COL4A5 | c.4412C>T (p.Thr1471Ile) c.4394C>T (p.Thr1465Ile) n.906C>T c.208C>T c.4403C>T (p.Thr1468Ile) c.4088C>T (p.Thr1363Ile) c.1985C>T (p.Thr662Ile) c.4427C>T (p.Thr1476Ile) c.4418C>T (p.Thr1473Ile) c.4409C>T (p.Thr1470Ile) c.2747C>T (p.Thr916Ile) | |
| X | g.108687579A>C | CA517924562 | COL4A5 | c.4413A>C (p.Thr1471=) c.4395A>C (p.Thr1465=) n.907A>C c.209A>C c.4404A>C (p.Thr1468=) c.4089A>C (p.Thr1363=) c.1986A>C (p.Thr662=) c.4428A>C (p.Thr1476=) c.4419A>C (p.Thr1473=) c.4410A>C (p.Thr1470=) c.2748A>C (p.Thr916=) | gnomAD v4 |
| X | g.108687579A>G | CA517924563 | COL4A5 | c.4413A>G (p.Thr1471=) c.4395A>G (p.Thr1465=) n.907A>G c.209A>G c.4404A>G (p.Thr1468=) c.4089A>G (p.Thr1363=) c.1986A>G (p.Thr662=) c.4428A>G (p.Thr1476=) c.4419A>G (p.Thr1473=) c.4410A>G (p.Thr1470=) c.2748A>G (p.Thr916=) | gnomAD v4 |
| X | g.108687579A>T | CA517924564 | COL4A5 | c.4413A>T (p.Thr1471=) c.4395A>T (p.Thr1465=) n.907A>T c.209A>T c.4404A>T (p.Thr1468=) c.4089A>T (p.Thr1363=) c.1986A>T (p.Thr662=) c.4428A>T (p.Thr1476=) c.4419A>T (p.Thr1473=) c.4410A>T (p.Thr1470=) c.2748A>T (p.Thr916=) | |
| X | g.108687580C>A | CA413854247 | COL4A5 | c.4414C>A (p.Arg1472Ser) c.4396C>A (p.Arg1466Ser) n.908C>A c.210C>A c.4405C>A (p.Arg1469Ser) c.4090C>A (p.Arg1364Ser) c.1987C>A (p.Arg663Ser) c.4429C>A (p.Arg1477Ser) c.4420C>A (p.Arg1474Ser) c.4411C>A (p.Arg1471Ser) c.2749C>A (p.Arg917Ser) | |
| X | g.108687580C= | CA2450719086 | COL4A5 | c.4414C= (p.Arg1472=) c.4396C= (p.Arg1466=) n.908C= c.210C= c.4405C= (p.Arg1469=) c.4090C= (p.Arg1364=) c.1987C= (p.Arg663=) c.4429C= (p.Arg1477=) c.4420C= (p.Arg1474=) c.4411C= (p.Arg1471=) c.2749C= (p.Arg917=) | |
| X | g.108687580C>G | CA413854249 | COL4A5 | c.4414C>G (p.Arg1472Gly) c.4396C>G (p.Arg1466Gly) n.908C>G c.210C>G c.4405C>G (p.Arg1469Gly) c.4090C>G (p.Arg1364Gly) c.1987C>G (p.Arg663Gly) c.4429C>G (p.Arg1477Gly) c.4420C>G (p.Arg1474Gly) c.4411C>G (p.Arg1471Gly) c.2749C>G (p.Arg917Gly) | |
| X | g.108687580C>T | CA10489349 | COL4A5 | c.4414C>T (p.Arg1472Cys) c.4396C>T (p.Arg1466Cys) n.908C>T c.210C>T c.4405C>T (p.Arg1469Cys) c.4090C>T (p.Arg1364Cys) c.1987C>T (p.Arg663Cys) c.4429C>T (p.Arg1477Cys) c.4420C>T (p.Arg1474Cys) c.4411C>T (p.Arg1471Cys) c.2749C>T (p.Arg917Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.108687581G>A | CA413854253 | COL4A5 | c.4415G>A (p.Arg1472His) c.4397G>A (p.Arg1466His) n.909G>A c.211G>A c.4406G>A (p.Arg1469His) c.4091G>A (p.Arg1364His) c.1988G>A (p.Arg663His) c.4430G>A (p.Arg1477His) c.4421G>A (p.Arg1474His) c.4412G>A (p.Arg1471His) c.2750G>A (p.Arg917His) | dbSNP gnomAD v4 |
| X | g.108687581G>C | CA413854255 | COL4A5 | c.4415G>C (p.Arg1472Pro) c.4397G>C (p.Arg1466Pro) n.909G>C c.211G>C c.4406G>C (p.Arg1469Pro) c.4091G>C (p.Arg1364Pro) c.1988G>C (p.Arg663Pro) c.4430G>C (p.Arg1477Pro) c.4421G>C (p.Arg1474Pro) c.4412G>C (p.Arg1471Pro) c.2750G>C (p.Arg917Pro) | |
| X | g.108687581G= | CA2450719091 | COL4A5 | c.4415G= (p.Arg1472=) c.4397G= (p.Arg1466=) n.909G= c.211G= c.4406G= (p.Arg1469=) c.4091G= (p.Arg1364=) c.1988G= (p.Arg663=) c.4430G= (p.Arg1477=) c.4421G= (p.Arg1474=) c.4412G= (p.Arg1471=) c.2750G= (p.Arg917=) | |
| X | g.108687581G>T | CA413854257 | COL4A5 | c.4415G>T (p.Arg1472Leu) c.4397G>T (p.Arg1466Leu) n.909G>T c.211G>T c.4406G>T (p.Arg1469Leu) c.4091G>T (p.Arg1364Leu) c.1988G>T (p.Arg663Leu) c.4430G>T (p.Arg1477Leu) c.4421G>T (p.Arg1474Leu) c.4412G>T (p.Arg1471Leu) c.2750G>T (p.Arg917Leu) | |
| X | g.108687581_108687582delinsCT | CA2573159110 | COL4A5 | c.4415_4416delinsCT (p.Arg1472Pro) c.4397_4398delinsCT (p.Arg1466Pro) n.909_910delinsCT c.211_212delinsCT c.4406_4407delinsCT (p.Arg1469Pro) c.4091_4092delinsCT (p.Arg1364Pro) c.1988_1989delinsCT (p.Arg663Pro) c.4430_4431delinsCT (p.Arg1477Pro) c.4421_4422delinsCT (p.Arg1474Pro) c.4412_4413delinsCT (p.Arg1471Pro) c.2750_2751delinsCT (p.Arg917Pro) | ClinVar dbSNP |
| X | g.108687582C>A | CA517924569 | COL4A5 | c.4416C>A (p.Arg1472=) c.4398C>A (p.Arg1466=) n.910C>A c.212C>A c.4407C>A (p.Arg1469=) c.4092C>A (p.Arg1364=) c.1989C>A (p.Arg663=) c.4431C>A (p.Arg1477=) c.4422C>A (p.Arg1474=) c.4413C>A (p.Arg1471=) c.2751C>A (p.Arg917=) | gnomAD v4 |
| X | g.108687582C= | CA2450719104 | COL4A5 | c.4416C= (p.Arg1472=) c.4398C= (p.Arg1466=) n.910C= c.212C= c.4407C= (p.Arg1469=) c.4092C= (p.Arg1364=) c.1989C= (p.Arg663=) c.4431C= (p.Arg1477=) c.4422C= (p.Arg1474=) c.4413C= (p.Arg1471=) c.2751C= (p.Arg917=) | |
| X | g.108687582C>G | CA517924570 | COL4A5 | c.4416C>G (p.Arg1472=) c.4398C>G (p.Arg1466=) n.910C>G c.212C>G c.4407C>G (p.Arg1469=) c.4092C>G (p.Arg1364=) c.1989C>G (p.Arg663=) c.4431C>G (p.Arg1477=) c.4422C>G (p.Arg1474=) c.4413C>G (p.Arg1471=) c.2751C>G (p.Arg917=) | |
| X | g.108687582C>T | CA517924568 | COL4A5 | c.4416C>T (p.Arg1472=) c.4398C>T (p.Arg1466=) n.910C>T c.212C>T c.4407C>T (p.Arg1469=) c.4092C>T (p.Arg1364=) c.1989C>T (p.Arg663=) c.4431C>T (p.Arg1477=) c.4422C>T (p.Arg1474=) c.4413C>T (p.Arg1471=) c.2751C>T (p.Arg917=) | |
| X | g.108687583C>A | CA413854259 | COL4A5 | c.4417C>A (p.His1473Asn) c.4399C>A (p.His1467Asn) n.911C>A c.213C>A c.4408C>A (p.His1470Asn) c.4093C>A (p.His1365Asn) c.1990C>A (p.His664Asn) c.4432C>A (p.His1478Asn) c.4423C>A (p.His1475Asn) c.4414C>A (p.His1472Asn) c.2752C>A (p.His918Asn) | |
| X | g.108687583C>G | CA413854269 | COL4A5 | c.4417C>G (p.His1473Asp) c.4399C>G (p.His1467Asp) n.911C>G c.213C>G c.4408C>G (p.His1470Asp) c.4093C>G (p.His1365Asp) c.1990C>G (p.His664Asp) c.4432C>G (p.His1478Asp) c.4423C>G (p.His1475Asp) c.4414C>G (p.His1472Asp) c.2752C>G (p.His918Asp) | |
| X | g.108687583C>T | CA413854265 | COL4A5 | c.4417C>T (p.His1473Tyr) c.4399C>T (p.His1467Tyr) n.911C>T c.213C>T c.4408C>T (p.His1470Tyr) c.4093C>T (p.His1365Tyr) c.1990C>T (p.His664Tyr) c.4432C>T (p.His1478Tyr) c.4423C>T (p.His1475Tyr) c.4414C>T (p.His1472Tyr) c.2752C>T (p.His918Tyr) | ClinVar |
| X | g.108687585_108687586dup | CA891843689 | COL4A5 | c.4419_4420dup (p.Ser1474ThrfsTer?) c.4401_4402dup (p.Ser1468ThrfsTer?) n.913_914dup c.215_216dup c.4410_4411dup (p.Ser1471ThrfsTer?) c.4095_4096dup (p.Ser1366ThrfsTer?) c.1992_1993dup (p.Ser665ThrfsTer?) c.4434_4435dup (p.Ser1479ThrfsTer?) c.4425_4426dup (p.Ser1476ThrfsTer?) c.4416_4417dup (p.Ser1473ThrfsTer?) c.2754_2755dup (p.Ser919ThrfsTer?) | |
| X | g.108687584A>C | CA413854271 | COL4A5 | c.4418A>C (p.His1473Pro) c.4400A>C (p.His1467Pro) n.912A>C c.214A>C c.4409A>C (p.His1470Pro) c.4094A>C (p.His1365Pro) c.1991A>C (p.His664Pro) c.4433A>C (p.His1478Pro) c.4424A>C (p.His1475Pro) c.4415A>C (p.His1472Pro) c.2753A>C (p.His918Pro) | |
| X | g.108687584A>G | CA413854273 | COL4A5 | c.4418A>G (p.His1473Arg) c.4400A>G (p.His1467Arg) n.912A>G c.214A>G c.4409A>G (p.His1470Arg) c.4094A>G (p.His1365Arg) c.1991A>G (p.His664Arg) c.4433A>G (p.His1478Arg) c.4424A>G (p.His1475Arg) c.4415A>G (p.His1472Arg) c.2753A>G (p.His918Arg) | |
| X | g.108687584A>T | CA413854274 | COL4A5 | c.4418A>T (p.His1473Leu) c.4400A>T (p.His1467Leu) n.912A>T c.214A>T c.4409A>T (p.His1470Leu) c.4094A>T (p.His1365Leu) c.1991A>T (p.His664Leu) c.4433A>T (p.His1478Leu) c.4424A>T (p.His1475Leu) c.4415A>T (p.His1472Leu) c.2753A>T (p.His918Leu) | |
| X | g.108687585C>A | CA413854275 | COL4A5 | c.4419C>A (p.His1473Gln) c.4401C>A (p.His1467Gln) n.913C>A c.215C>A c.4410C>A (p.His1470Gln) c.4095C>A (p.His1365Gln) c.1992C>A (p.His664Gln) c.4434C>A (p.His1478Gln) c.4425C>A (p.His1475Gln) c.4416C>A (p.His1472Gln) c.2754C>A (p.His918Gln) | |
| X | g.108687585C>G | CA413854276 | COL4A5 | c.4419C>G (p.His1473Gln) c.4401C>G (p.His1467Gln) n.913C>G c.215C>G c.4410C>G (p.His1470Gln) c.4095C>G (p.His1365Gln) c.1992C>G (p.His664Gln) c.4434C>G (p.His1478Gln) c.4425C>G (p.His1475Gln) c.4416C>G (p.His1472Gln) c.2754C>G (p.His918Gln) | |
| X | g.108687585C>T | CA517924573 | COL4A5 | c.4419C>T (p.His1473=) c.4401C>T (p.His1467=) n.913C>T c.215C>T c.4410C>T (p.His1470=) c.4095C>T (p.His1365=) c.1992C>T (p.His664=) c.4434C>T (p.His1478=) c.4425C>T (p.His1475=) c.4416C>T (p.His1472=) c.2754C>T (p.His918=) | |
| X | g.108687586A>C | CA413854278 | COL4A5 | c.4420A>C (p.Ser1474Arg) c.4402A>C (p.Ser1468Arg) n.914A>C c.216A>C c.4411A>C (p.Ser1471Arg) c.4096A>C (p.Ser1366Arg) c.1993A>C (p.Ser665Arg) c.4435A>C (p.Ser1479Arg) c.4426A>C (p.Ser1476Arg) c.4417A>C (p.Ser1473Arg) c.2755A>C (p.Ser919Arg) | |
| X | g.108687586A>G | CA413854279 | COL4A5 | c.4420A>G (p.Ser1474Gly) c.4402A>G (p.Ser1468Gly) n.914A>G c.216A>G c.4411A>G (p.Ser1471Gly) c.4096A>G (p.Ser1366Gly) c.1993A>G (p.Ser665Gly) c.4435A>G (p.Ser1479Gly) c.4426A>G (p.Ser1476Gly) c.4417A>G (p.Ser1473Gly) c.2755A>G (p.Ser919Gly) | |
| X | g.108687586A>T | CA413854280 | COL4A5 | c.4420A>T (p.Ser1474Cys) c.4402A>T (p.Ser1468Cys) n.914A>T c.216A>T c.4411A>T (p.Ser1471Cys) c.4096A>T (p.Ser1366Cys) c.1993A>T (p.Ser665Cys) c.4435A>T (p.Ser1479Cys) c.4426A>T (p.Ser1476Cys) c.4417A>T (p.Ser1473Cys) c.2755A>T (p.Ser919Cys) | |
| X | g.108687587G>A | CA413854281 | COL4A5 | c.4421G>A (p.Ser1474Asn) c.4403G>A (p.Ser1468Asn) n.915G>A c.217G>A c.4412G>A (p.Ser1471Asn) c.4097G>A (p.Ser1366Asn) c.1994G>A (p.Ser665Asn) c.4436G>A (p.Ser1479Asn) c.4427G>A (p.Ser1476Asn) c.4418G>A (p.Ser1473Asn) c.2756G>A (p.Ser919Asn) | |
| X | g.108687587G>C | CA413854282 | COL4A5 | c.4421G>C (p.Ser1474Thr) c.4403G>C (p.Ser1468Thr) n.915G>C c.217G>C c.4412G>C (p.Ser1471Thr) c.4097G>C (p.Ser1366Thr) c.1994G>C (p.Ser665Thr) c.4436G>C (p.Ser1479Thr) c.4427G>C (p.Ser1476Thr) c.4418G>C (p.Ser1473Thr) c.2756G>C (p.Ser919Thr) | |
| X | g.108687587G>T | CA413854283 | COL4A5 | c.4421G>T (p.Ser1474Ile) c.4403G>T (p.Ser1468Ile) n.915G>T c.217G>T c.4412G>T (p.Ser1471Ile) c.4097G>T (p.Ser1366Ile) c.1994G>T (p.Ser665Ile) c.4436G>T (p.Ser1479Ile) c.4427G>T (p.Ser1476Ile) c.4418G>T (p.Ser1473Ile) c.2756G>T (p.Ser919Ile) | |
| X | g.108687588C>A | CA413854285 | COL4A5 | c.4422C>A (p.Ser1474Arg) c.4404C>A (p.Ser1468Arg) n.916C>A c.218C>A c.4413C>A (p.Ser1471Arg) c.4098C>A (p.Ser1366Arg) c.1995C>A (p.Ser665Arg) c.4437C>A (p.Ser1479Arg) c.4428C>A (p.Ser1476Arg) c.4419C>A (p.Ser1473Arg) c.2757C>A (p.Ser919Arg) | |
| X | g.108687588C>G | CA413854287 | COL4A5 | c.4422C>G (p.Ser1474Arg) c.4404C>G (p.Ser1468Arg) n.916C>G c.218C>G c.4413C>G (p.Ser1471Arg) c.4098C>G (p.Ser1366Arg) c.1995C>G (p.Ser665Arg) c.4437C>G (p.Ser1479Arg) c.4428C>G (p.Ser1476Arg) c.4419C>G (p.Ser1473Arg) c.2757C>G (p.Ser919Arg) | |
| X | g.108687588C>T | CA517924575 | COL4A5 | c.4422C>T (p.Ser1474=) c.4404C>T (p.Ser1468=) n.916C>T c.218C>T c.4413C>T (p.Ser1471=) c.4098C>T (p.Ser1366=) c.1995C>T (p.Ser665=) c.4437C>T (p.Ser1479=) c.4428C>T (p.Ser1476=) c.4419C>T (p.Ser1473=) c.2757C>T (p.Ser919=) | |
| X | g.108687589C>A | CA413854290 | COL4A5 | c.4423C>A (p.Gln1475Lys) c.4405C>A (p.Gln1469Lys) n.917C>A c.219C>A c.4414C>A (p.Gln1472Lys) c.4099C>A (p.Gln1367Lys) c.1996C>A (p.Gln666Lys) c.4438C>A (p.Gln1480Lys) c.4429C>A (p.Gln1477Lys) c.4420C>A (p.Gln1474Lys) c.2758C>A (p.Gln920Lys) | |
| X | g.108687589C>G | CA413854291 | COL4A5 | c.4423C>G (p.Gln1475Glu) c.4405C>G (p.Gln1469Glu) n.917C>G c.219C>G c.4414C>G (p.Gln1472Glu) c.4099C>G (p.Gln1367Glu) c.1996C>G (p.Gln666Glu) c.4438C>G (p.Gln1480Glu) c.4429C>G (p.Gln1477Glu) c.4420C>G (p.Gln1474Glu) c.2758C>G (p.Gln920Glu) |