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.108686096C>A | CA413853712 | COL4A5 | c.4282C>A (p.Arg1428Ser) c.4264C>A (p.Arg1422Ser) n.776C>A n.685C>A c.78C>A c.4273C>A (p.Arg1425Ser) c.3958C>A (p.Arg1320Ser) c.1855C>A (p.Arg619Ser) c.4297C>A (p.Arg1433Ser) c.4288C>A (p.Arg1430Ser) c.4279C>A (p.Arg1427Ser) c.2617C>A (p.Arg873Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686096C= | CA2450718775 | COL4A5 | c.4282C= (p.Arg1428=) c.4264C= (p.Arg1422=) n.776C= n.685C= c.78C= c.4273C= (p.Arg1425=) c.3958C= (p.Arg1320=) c.1855C= (p.Arg619=) c.4297C= (p.Arg1433=) c.4288C= (p.Arg1430=) c.4279C= (p.Arg1427=) c.2617C= (p.Arg873=) | |
| X | g.108686096C>G | CA413853715 | COL4A5 | c.4282C>G (p.Arg1428Gly) c.4264C>G (p.Arg1422Gly) n.776C>G n.685C>G c.78C>G c.4273C>G (p.Arg1425Gly) c.3958C>G (p.Arg1320Gly) c.1855C>G (p.Arg619Gly) c.4297C>G (p.Arg1433Gly) c.4288C>G (p.Arg1430Gly) c.4279C>G (p.Arg1427Gly) c.2617C>G (p.Arg873Gly) | |
| X | g.108686096C>T | CA033364 | COL4A5 | c.4282C>T (p.Arg1428Cys) c.4264C>T (p.Arg1422Cys) n.776C>T n.685C>T c.78C>T c.4273C>T (p.Arg1425Cys) c.3958C>T (p.Arg1320Cys) c.1855C>T (p.Arg619Cys) c.4297C>T (p.Arg1433Cys) c.4288C>T (p.Arg1430Cys) c.4279C>T (p.Arg1427Cys) c.2617C>T (p.Arg873Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686097G>A | CA413853719 | COL4A5 | c.4283G>A (p.Arg1428His) c.4265G>A (p.Arg1422His) n.777G>A n.686G>A c.79G>A c.4274G>A (p.Arg1425His) c.3959G>A (p.Arg1320His) c.1856G>A (p.Arg619His) c.4298G>A (p.Arg1433His) c.4289G>A (p.Arg1430His) c.4280G>A (p.Arg1427His) c.2618G>A (p.Arg873His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108686097G>C | CA413853721 | COL4A5 | c.4283G>C (p.Arg1428Pro) c.4265G>C (p.Arg1422Pro) n.777G>C n.686G>C c.79G>C c.4274G>C (p.Arg1425Pro) c.3959G>C (p.Arg1320Pro) c.1856G>C (p.Arg619Pro) c.4298G>C (p.Arg1433Pro) c.4289G>C (p.Arg1430Pro) c.4280G>C (p.Arg1427Pro) c.2618G>C (p.Arg873Pro) | |
| X | g.108686097G= | CA2450718776 | COL4A5 | c.4283G= (p.Arg1428=) c.4265G= (p.Arg1422=) n.777G= n.686G= c.79G= c.4274G= (p.Arg1425=) c.3959G= (p.Arg1320=) c.1856G= (p.Arg619=) c.4298G= (p.Arg1433=) c.4289G= (p.Arg1430=) c.4280G= (p.Arg1427=) c.2618G= (p.Arg873=) | |
| X | g.108686097G>T | CA413853722 | COL4A5 | c.4283G>T (p.Arg1428Leu) c.4265G>T (p.Arg1422Leu) n.777G>T n.686G>T c.79G>T c.4274G>T (p.Arg1425Leu) c.3959G>T (p.Arg1320Leu) c.1856G>T (p.Arg619Leu) c.4298G>T (p.Arg1433Leu) c.4289G>T (p.Arg1430Leu) c.4280G>T (p.Arg1427Leu) c.2618G>T (p.Arg873Leu) | gnomAD v4 |
| X | g.108686098C>A | CA517924166 | COL4A5 | c.4284C>A (p.Arg1428=) c.4266C>A (p.Arg1422=) n.778C>A n.687C>A c.80C>A c.4275C>A (p.Arg1425=) c.3960C>A (p.Arg1320=) c.1857C>A (p.Arg619=) c.4299C>A (p.Arg1433=) c.4290C>A (p.Arg1430=) c.4281C>A (p.Arg1427=) c.2619C>A (p.Arg873=) | |
| X | g.108686098C>G | CA517924164 | COL4A5 | c.4284C>G (p.Arg1428=) c.4266C>G (p.Arg1422=) n.778C>G n.687C>G c.80C>G c.4275C>G (p.Arg1425=) c.3960C>G (p.Arg1320=) c.1857C>G (p.Arg619=) c.4299C>G (p.Arg1433=) c.4290C>G (p.Arg1430=) c.4281C>G (p.Arg1427=) c.2619C>G (p.Arg873=) | |
| X | g.108686098C>T | CA517924162 | COL4A5 | c.4284C>T (p.Arg1428=) c.4266C>T (p.Arg1422=) n.778C>T n.687C>T c.80C>T c.4275C>T (p.Arg1425=) c.3960C>T (p.Arg1320=) c.1857C>T (p.Arg619=) c.4299C>T (p.Arg1433=) c.4290C>T (p.Arg1430=) c.4281C>T (p.Arg1427=) c.2619C>T (p.Arg873=) | ClinVar |
| X | g.108686099A>C | CA413853725 | COL4A5 | c.4285A>C (p.Lys1429Gln) c.4267A>C (p.Lys1423Gln) n.779A>C n.688A>C c.81A>C c.4276A>C (p.Lys1426Gln) c.3961A>C (p.Lys1321Gln) c.1858A>C (p.Lys620Gln) c.4300A>C (p.Lys1434Gln) c.4291A>C (p.Lys1431Gln) c.4282A>C (p.Lys1428Gln) c.2620A>C (p.Lys874Gln) | |
| X | g.108686099A>G | CA413853727 | COL4A5 | c.4285A>G (p.Lys1429Glu) c.4267A>G (p.Lys1423Glu) n.779A>G n.688A>G c.81A>G c.4276A>G (p.Lys1426Glu) c.3961A>G (p.Lys1321Glu) c.1858A>G (p.Lys620Glu) c.4300A>G (p.Lys1434Glu) c.4291A>G (p.Lys1431Glu) c.4282A>G (p.Lys1428Glu) c.2620A>G (p.Lys874Glu) | |
| X | g.108686099A>T | CA413853728 | COL4A5 | c.4285A>T (p.Lys1429Ter) c.4267A>T (p.Lys1423Ter) n.779A>T n.688A>T c.81A>T c.4276A>T (p.Lys1426Ter) c.3961A>T (p.Lys1321Ter) c.1858A>T (p.Lys620Ter) c.4300A>T (p.Lys1434Ter) c.4291A>T (p.Lys1431Ter) c.4282A>T (p.Lys1428Ter) c.2620A>T (p.Lys874Ter) | |
| X | g.108686100_108686101dup | CA2739290544 | COL4A5 | c.4286_4287dup (p.Gly1430LysfsTer?) c.4268_4269dup (p.Gly1424LysfsTer?) n.780_781dup n.689_690dup c.82_83dup c.4277_4278dup (p.Gly1427LysfsTer?) c.3962_3963dup (p.Gly1322LysfsTer?) c.1859_1860dup (p.Gly621LysfsTer?) c.4301_4302dup (p.Gly1435LysfsTer?) c.4292_4293dup (p.Gly1432LysfsTer?) c.4283_4284dup (p.Gly1429LysfsTer?) c.2621_2622dup (p.Gly875LysfsTer?) | |
| X | g.108686100A>C | CA413853732 | COL4A5 | c.4286A>C (p.Lys1429Thr) c.4268A>C (p.Lys1423Thr) n.780A>C n.689A>C c.82A>C c.4277A>C (p.Lys1426Thr) c.3962A>C (p.Lys1321Thr) c.1859A>C (p.Lys620Thr) c.4301A>C (p.Lys1434Thr) c.4292A>C (p.Lys1431Thr) c.4283A>C (p.Lys1428Thr) c.2621A>C (p.Lys874Thr) | |
| X | g.108686100A>G | CA413853733 | COL4A5 | c.4286A>G (p.Lys1429Arg) c.4268A>G (p.Lys1423Arg) n.780A>G n.689A>G c.82A>G c.4277A>G (p.Lys1426Arg) c.3962A>G (p.Lys1321Arg) c.1859A>G (p.Lys620Arg) c.4301A>G (p.Lys1434Arg) c.4292A>G (p.Lys1431Arg) c.4283A>G (p.Lys1428Arg) c.2621A>G (p.Lys874Arg) | gnomAD v4 |
| X | g.108686100A>T | CA413853730 | COL4A5 | c.4286A>T (p.Lys1429Ile) c.4268A>T (p.Lys1423Ile) n.780A>T n.689A>T c.82A>T c.4277A>T (p.Lys1426Ile) c.3962A>T (p.Lys1321Ile) c.1859A>T (p.Lys620Ile) c.4301A>T (p.Lys1434Ile) c.4292A>T (p.Lys1431Ile) c.4283A>T (p.Lys1428Ile) c.2621A>T (p.Lys874Ile) | |
| X | g.108686101A= | CA2450718777 | COL4A5 | c.4287A= (p.Lys1429=) c.4269A= (p.Lys1423=) n.781A= n.690A= c.83A= c.4278A= (p.Lys1426=) c.3963A= (p.Lys1321=) c.1860A= (p.Lys620=) c.4302A= (p.Lys1434=) c.4293A= (p.Lys1431=) c.4284A= (p.Lys1428=) c.2622A= (p.Lys874=) | |
| X | g.108686101A>C | CA413853735 | COL4A5 | c.4287A>C (p.Lys1429Asn) c.4269A>C (p.Lys1423Asn) n.781A>C n.690A>C c.83A>C c.4278A>C (p.Lys1426Asn) c.3963A>C (p.Lys1321Asn) c.1860A>C (p.Lys620Asn) c.4302A>C (p.Lys1434Asn) c.4293A>C (p.Lys1431Asn) c.4284A>C (p.Lys1428Asn) c.2622A>C (p.Lys874Asn) | |
| X | g.108686101A>G | CA10489331 | COL4A5 | c.4287A>G (p.Lys1429=) c.4269A>G (p.Lys1423=) n.781A>G n.690A>G c.83A>G c.4278A>G (p.Lys1426=) c.3963A>G (p.Lys1321=) c.1860A>G (p.Lys620=) c.4302A>G (p.Lys1434=) c.4293A>G (p.Lys1431=) c.4284A>G (p.Lys1428=) c.2622A>G (p.Lys874=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108686101A>T | CA413853738 | COL4A5 | c.4287A>T (p.Lys1429Asn) c.4269A>T (p.Lys1423Asn) n.781A>T n.690A>T c.83A>T c.4278A>T (p.Lys1426Asn) c.3963A>T (p.Lys1321Asn) c.1860A>T (p.Lys620Asn) c.4302A>T (p.Lys1434Asn) c.4293A>T (p.Lys1431Asn) c.4284A>T (p.Lys1428Asn) c.2622A>T (p.Lys874Asn) | |
| X | g.108686102G>A | CA413853740 | COL4A5 | c.4288G>A (p.Gly1430Arg) c.4270G>A (p.Gly1424Arg) n.782G>A n.691G>A c.84G>A c.4279G>A (p.Gly1427Arg) c.3964G>A (p.Gly1322Arg) c.1861G>A (p.Gly621Arg) c.4303G>A (p.Gly1435Arg) c.4294G>A (p.Gly1432Arg) c.4285G>A (p.Gly1429Arg) c.2623G>A (p.Gly875Arg) | |
| X | g.108686102G>C | CA413853742 | COL4A5 | c.4288G>C (p.Gly1430Arg) c.4270G>C (p.Gly1424Arg) n.782G>C n.691G>C c.84G>C c.4279G>C (p.Gly1427Arg) c.3964G>C (p.Gly1322Arg) c.1861G>C (p.Gly621Arg) c.4303G>C (p.Gly1435Arg) c.4294G>C (p.Gly1432Arg) c.4285G>C (p.Gly1429Arg) c.2623G>C (p.Gly875Arg) | |
| X | g.108686102G>T | CA413853744 | COL4A5 | c.4288G>T (p.Gly1430Ter) c.4270G>T (p.Gly1424Ter) n.782G>T n.691G>T c.84G>T c.4279G>T (p.Gly1427Ter) c.3964G>T (p.Gly1322Ter) c.1861G>T (p.Gly621Ter) c.4303G>T (p.Gly1435Ter) c.4294G>T (p.Gly1432Ter) c.4285G>T (p.Gly1429Ter) c.2623G>T (p.Gly875Ter) | |
| X | g.108686103G>A | CA261093 | COL4A5 | c.4289G>A (p.Gly1430Glu) c.4271G>A (p.Gly1424Glu) n.783G>A n.692G>A c.85G>A c.4280G>A (p.Gly1427Glu) c.3965G>A (p.Gly1322Glu) c.1862G>A (p.Gly621Glu) c.4304G>A (p.Gly1435Glu) c.4295G>A (p.Gly1432Glu) c.4286G>A (p.Gly1429Glu) c.2624G>A (p.Gly875Glu) | dbSNP |
| X | g.108686103G>C | CA413853747 | COL4A5 | c.4289G>C (p.Gly1430Ala) c.4271G>C (p.Gly1424Ala) n.783G>C n.692G>C c.85G>C c.4280G>C (p.Gly1427Ala) c.3965G>C (p.Gly1322Ala) c.1862G>C (p.Gly621Ala) c.4304G>C (p.Gly1435Ala) c.4295G>C (p.Gly1432Ala) c.4286G>C (p.Gly1429Ala) c.2624G>C (p.Gly875Ala) | |
| X | g.108686103G= | CA2450718778 | COL4A5 | c.4289G= (p.Gly1430=) c.4271G= (p.Gly1424=) n.783G= n.692G= c.85G= c.4280G= (p.Gly1427=) c.3965G= (p.Gly1322=) c.1862G= (p.Gly621=) c.4304G= (p.Gly1435=) c.4295G= (p.Gly1432=) c.4286G= (p.Gly1429=) c.2624G= (p.Gly875=) | |
| X | g.108686103G>T | CA413853748 | COL4A5 | c.4289G>T (p.Gly1430Val) c.4271G>T (p.Gly1424Val) n.783G>T n.692G>T c.85G>T c.4280G>T (p.Gly1427Val) c.3965G>T (p.Gly1322Val) c.1862G>T (p.Gly621Val) c.4304G>T (p.Gly1435Val) c.4295G>T (p.Gly1432Val) c.4286G>T (p.Gly1429Val) c.2624G>T (p.Gly875Val) | |
| X | g.108686104A>C | CA517924174 | COL4A5 | c.4290A>C (p.Gly1430=) c.4272A>C (p.Gly1424=) n.784A>C n.693A>C c.86A>C c.4281A>C (p.Gly1427=) c.3966A>C (p.Gly1322=) c.1863A>C (p.Gly621=) c.4305A>C (p.Gly1435=) c.4296A>C (p.Gly1432=) c.4287A>C (p.Gly1429=) c.2625A>C (p.Gly875=) | |
| X | g.108686104A>G | CA517924176 | COL4A5 | c.4290A>G (p.Gly1430=) c.4272A>G (p.Gly1424=) n.784A>G n.693A>G c.86A>G c.4281A>G (p.Gly1427=) c.3966A>G (p.Gly1322=) c.1863A>G (p.Gly621=) c.4305A>G (p.Gly1435=) c.4296A>G (p.Gly1432=) c.4287A>G (p.Gly1429=) c.2625A>G (p.Gly875=) | |
| X | g.108686104A>T | CA517924175 | COL4A5 | c.4290A>T (p.Gly1430=) c.4272A>T (p.Gly1424=) n.784A>T n.693A>T c.86A>T c.4281A>T (p.Gly1427=) c.3966A>T (p.Gly1322=) c.1863A>T (p.Gly621=) c.4305A>T (p.Gly1435=) c.4296A>T (p.Gly1432=) c.4287A>T (p.Gly1429=) c.2625A>T (p.Gly875=) | |
| X | g.108686104_108686111delinsAGACCCAG | CA2450718779 | COL4A5 | c.4290_4297delinsAGACCCAG (p.Gly1430=) c.4272_4279delinsAGACCCAG (p.Gly1424=) n.784_791delinsAGACCCAG n.693_700delinsAGACCCAG c.86_93delinsAGACCCAG c.4281_4288delinsAGACCCAG (p.Gly1427=) c.3966_3973delinsAGACCCAG (p.Gly1322=) c.1863_1870delinsAGACCCAG (p.Gly621=) c.4305_4312delinsAGACCCAG (p.Gly1435=) c.4296_4303delinsAGACCCAG (p.Gly1432=) c.4287_4294delinsAGACCCAG (p.Gly1429=) c.2625_2632delinsAGACCCAG (p.Gly875=) | |
| X | g.108686105G>A | CA413853751 | COL4A5 | c.4291G>A (p.Asp1431Asn) c.4273G>A (p.Asp1425Asn) n.785G>A n.694G>A c.87G>A c.4282G>A (p.Asp1428Asn) c.3967G>A (p.Asp1323Asn) c.1864G>A (p.Asp622Asn) c.4306G>A (p.Asp1436Asn) c.4297G>A (p.Asp1433Asn) c.4288G>A (p.Asp1430Asn) c.2626G>A (p.Asp876Asn) | |
| X | g.108686105G>C | CA413853753 | COL4A5 | c.4291G>C (p.Asp1431His) c.4273G>C (p.Asp1425His) n.785G>C n.694G>C c.87G>C c.4282G>C (p.Asp1428His) c.3967G>C (p.Asp1323His) c.1864G>C (p.Asp622His) c.4306G>C (p.Asp1436His) c.4297G>C (p.Asp1433His) c.4288G>C (p.Asp1430His) c.2626G>C (p.Asp876His) | |
| X | g.108686105G>T | CA413853754 | COL4A5 | c.4291G>T (p.Asp1431Tyr) c.4273G>T (p.Asp1425Tyr) n.785G>T n.694G>T c.87G>T c.4282G>T (p.Asp1428Tyr) c.3967G>T (p.Asp1323Tyr) c.1864G>T (p.Asp622Tyr) c.4306G>T (p.Asp1436Tyr) c.4297G>T (p.Asp1433Tyr) c.4288G>T (p.Asp1430Tyr) c.2626G>T (p.Asp876Tyr) | |
| X | g.108686105_108686111delinsCT | CA2450718780 | COL4A5 | c.4291_4297delinsCT (p.Asp1431LeufsTer?) c.4273_4279delinsCT (p.Asp1425LeufsTer?) n.785_791delinsCT n.694_700delinsCT c.87_93delinsCT c.4282_4288delinsCT (p.Asp1428LeufsTer?) c.3967_3973delinsCT (p.Asp1323LeufsTer?) c.1864_1870delinsCT (p.Asp622LeufsTer?) c.4306_4312delinsCT (p.Asp1436LeufsTer?) c.4297_4303delinsCT (p.Asp1433LeufsTer?) c.4288_4294delinsCT (p.Asp1430LeufsTer?) c.2626_2632delinsCT (p.Asp876LeufsTer?) | ClinVar dbSNP |
| X | g.108686106A= | CA2450718781 | COL4A5 | c.4292A= (p.Asp1431=) c.4274A= (p.Asp1425=) n.786A= n.695A= c.88A= c.4283A= (p.Asp1428=) c.3968A= (p.Asp1323=) c.1865A= (p.Asp622=) c.4307A= (p.Asp1436=) c.4298A= (p.Asp1433=) c.4289A= (p.Asp1430=) c.2627A= (p.Asp876=) | |
| X | g.108686106A>C | CA413853758 | COL4A5 | c.4292A>C (p.Asp1431Ala) c.4274A>C (p.Asp1425Ala) n.786A>C n.695A>C c.88A>C c.4283A>C (p.Asp1428Ala) c.3968A>C (p.Asp1323Ala) c.1865A>C (p.Asp622Ala) c.4307A>C (p.Asp1436Ala) c.4298A>C (p.Asp1433Ala) c.4289A>C (p.Asp1430Ala) c.2627A>C (p.Asp876Ala) | |
| X | g.108686106A>G | CA413853760 | COL4A5 | c.4292A>G (p.Asp1431Gly) c.4274A>G (p.Asp1425Gly) n.786A>G n.695A>G c.88A>G c.4283A>G (p.Asp1428Gly) c.3968A>G (p.Asp1323Gly) c.1865A>G (p.Asp622Gly) c.4307A>G (p.Asp1436Gly) c.4298A>G (p.Asp1433Gly) c.4289A>G (p.Asp1430Gly) c.2627A>G (p.Asp876Gly) | |
| X | g.108686106A>T | CA10489332 | COL4A5 | c.4292A>T (p.Asp1431Val) c.4274A>T (p.Asp1425Val) n.786A>T n.695A>T c.88A>T c.4283A>T (p.Asp1428Val) c.3968A>T (p.Asp1323Val) c.1865A>T (p.Asp622Val) c.4307A>T (p.Asp1436Val) c.4298A>T (p.Asp1433Val) c.4289A>T (p.Asp1430Val) c.2627A>T (p.Asp876Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686107C>A | CA413853763 | COL4A5 | c.4293C>A (p.Asp1431Glu) c.4275C>A (p.Asp1425Glu) n.787C>A n.696C>A c.89C>A c.4284C>A (p.Asp1428Glu) c.3969C>A (p.Asp1323Glu) c.1866C>A (p.Asp622Glu) c.4308C>A (p.Asp1436Glu) c.4299C>A (p.Asp1433Glu) c.4290C>A (p.Asp1430Glu) c.2628C>A (p.Asp876Glu) | |
| X | g.108686107C= | CA2450718782 | COL4A5 | c.4293C= (p.Asp1431=) c.4275C= (p.Asp1425=) n.787C= n.696C= c.89C= c.4284C= (p.Asp1428=) c.3969C= (p.Asp1323=) c.1866C= (p.Asp622=) c.4308C= (p.Asp1436=) c.4299C= (p.Asp1433=) c.4290C= (p.Asp1430=) c.2628C= (p.Asp876=) | |
| X | g.108686107C>G | CA413853764 | COL4A5 | c.4293C>G (p.Asp1431Glu) c.4275C>G (p.Asp1425Glu) n.787C>G n.696C>G c.89C>G c.4284C>G (p.Asp1428Glu) c.3969C>G (p.Asp1323Glu) c.1866C>G (p.Asp622Glu) c.4308C>G (p.Asp1436Glu) c.4299C>G (p.Asp1433Glu) c.4290C>G (p.Asp1430Glu) c.2628C>G (p.Asp876Glu) | COSMIC COSMIC |
| X | g.108686107C>T | CA259012 | COL4A5 | c.4293C>T (p.Asp1431=) c.4275C>T (p.Asp1425=) n.787C>T n.696C>T c.89C>T c.4284C>T (p.Asp1428=) c.3969C>T (p.Asp1323=) c.1866C>T (p.Asp622=) c.4308C>T (p.Asp1436=) c.4299C>T (p.Asp1433=) c.4290C>T (p.Asp1430=) c.2628C>T (p.Asp876=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686109del | CA2695235232 | COL4A5 | c.4295del (p.Pro1432GlnfsTer?) c.4277del (p.Pro1426GlnfsTer?) n.789del n.698del c.91del c.4286del (p.Pro1429GlnfsTer?) c.3971del (p.Pro1324GlnfsTer?) c.1868del (p.Pro623GlnfsTer?) c.4310del (p.Pro1437GlnfsTer?) c.4301del (p.Pro1434GlnfsTer?) c.4292del (p.Pro1431GlnfsTer?) c.2630del (p.Pro877GlnfsTer?) | |
| X | g.108686108C>A | CA413853767 | COL4A5 | c.4294C>A (p.Pro1432Thr) c.4276C>A (p.Pro1426Thr) n.788C>A n.697C>A c.90C>A c.4285C>A (p.Pro1429Thr) c.3970C>A (p.Pro1324Thr) c.1867C>A (p.Pro623Thr) c.4309C>A (p.Pro1437Thr) c.4300C>A (p.Pro1434Thr) c.4291C>A (p.Pro1431Thr) c.2629C>A (p.Pro877Thr) | gnomAD v4 |
| X | g.108686108C>G | CA413853768 | COL4A5 | c.4294C>G (p.Pro1432Ala) c.4276C>G (p.Pro1426Ala) n.788C>G n.697C>G c.90C>G c.4285C>G (p.Pro1429Ala) c.3970C>G (p.Pro1324Ala) c.1867C>G (p.Pro623Ala) c.4309C>G (p.Pro1437Ala) c.4300C>G (p.Pro1434Ala) c.4291C>G (p.Pro1431Ala) c.2629C>G (p.Pro877Ala) | gnomAD v4 |
| X | g.108686108C>T | CA413853769 | COL4A5 | c.4294C>T (p.Pro1432Ser) c.4276C>T (p.Pro1426Ser) n.788C>T n.697C>T c.90C>T c.4285C>T (p.Pro1429Ser) c.3970C>T (p.Pro1324Ser) c.1867C>T (p.Pro623Ser) c.4309C>T (p.Pro1437Ser) c.4300C>T (p.Pro1434Ser) c.4291C>T (p.Pro1431Ser) c.2629C>T (p.Pro877Ser) | |
| X | g.108686109C>A | CA413853772 | COL4A5 | c.4295C>A (p.Pro1432Gln) c.4277C>A (p.Pro1426Gln) n.789C>A n.698C>A c.91C>A c.4286C>A (p.Pro1429Gln) c.3971C>A (p.Pro1324Gln) c.1868C>A (p.Pro623Gln) c.4310C>A (p.Pro1437Gln) c.4301C>A (p.Pro1434Gln) c.4292C>A (p.Pro1431Gln) c.2630C>A (p.Pro877Gln) |