Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108573564C>A | CA2579675874 | COL4A5 | c.466-10C>A (n.466-10C>A) c.142-10C>A (n.142-10C>A) c.481-10C>A (n.481-10C>A) | gnomAD v4 |
X | g.108573564C= | CA2450680709 | COL4A5 | c.466-10C= (n.466-10C=) c.142-10C= (n.142-10C=) c.481-10C= (n.481-10C=) | |
X | g.108573564C>T | CA1136177481 | COL4A5 | c.466-10C>T (n.466-10C>T) c.142-10C>T (n.142-10C>T) c.481-10C>T (n.481-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573565T>C | CA2694411159 | COL4A5 | c.466-9T>C (n.466-9T>C) c.142-9T>C (n.142-9T>C) c.481-9T>C (n.481-9T>C) | gnomAD v4 |
X | g.108573566T>C | CA2694411160 | COL4A5 | c.466-8T>C (n.466-8T>C) c.142-8T>C (n.142-8T>C) c.481-8T>C (n.481-8T>C) | gnomAD v4 |
X | g.108573567C>A | CA1136177487 | COL4A5 | c.466-7C>A (n.466-7C>A) c.142-7C>A (n.142-7C>A) c.481-7C>A (n.481-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573567C= | CA2450680710 | COL4A5 | c.466-7C= (n.466-7C=) c.142-7C= (n.142-7C=) c.481-7C= (n.481-7C=) | |
X | g.108573567C>T | CA643749610 | COL4A5 | c.466-7C>T (n.466-7C>T) c.142-7C>T (n.142-7C>T) c.481-7C>T (n.481-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573568T>C | CA645608361 | COL4A5 | c.466-6T>C (n.466-6T>C) c.142-6T>C (n.142-6T>C) c.481-6T>C (n.481-6T>C) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108573568T= | CA2450680711 | COL4A5 | c.466-6T= (n.466-6T=) c.142-6T= (n.142-6T=) c.481-6T= (n.481-6T=) | |
X | g.108573571del | CA2579675875 | COL4A5 | c.466-3del (n.466-3del) c.142-3del (n.142-3del) c.481-3del (n.481-3del) | gnomAD v4 |
X | g.108573570T>C | CA2694411161 | COL4A5 | c.466-4T>C (n.466-4T>C) c.142-4T>C (n.142-4T>C) c.481-4T>C (n.481-4T>C) | gnomAD v4 |
X | g.108573571T>A | CA2694411162 | COL4A5 | c.466-3T>A (n.466-3T>A) c.142-3T>A (n.142-3T>A) c.481-3T>A (n.481-3T>A) | gnomAD v4 |
X | g.108573571T>C | CA2694411163 | COL4A5 | c.466-3T>C (n.466-3T>C) c.142-3T>C (n.142-3T>C) c.481-3T>C (n.481-3T>C) | gnomAD v4 |
X | g.108573572A= | CA2450680712 | COL4A5 | c.466-2A= (n.466-2A=) c.142-2A= (n.142-2A=) c.481-2A= (n.481-2A=) | |
X | g.108573572A>C | CA413920681 | COL4A5 | c.466-2A>C (n.466-2A>C) c.142-2A>C (n.142-2A>C) c.481-2A>C (n.481-2A>C) | |
X | g.108573572A>G | CA258254 | COL4A5 | c.466-2A>G (n.466-2A>G) c.142-2A>G (n.142-2A>G) c.481-2A>G (n.481-2A>G) | dbSNP gnomAD v4 |
X | g.108573572A>T | CA413920685 | COL4A5 | c.466-2A>T (n.466-2A>T) c.142-2A>T (n.142-2A>T) c.481-2A>T (n.481-2A>T) | |
X | g.108573573G>A | CA413920692 | COL4A5 | c.466-1G>A (n.466-1G>A) c.142-1G>A (n.142-1G>A) c.481-1G>A (n.481-1G>A) | |
X | g.108573573G>C | CA413920693 | COL4A5 | c.466-1G>C (n.466-1G>C) c.142-1G>C (n.142-1G>C) c.481-1G>C (n.481-1G>C) | ClinVar dbSNP |
X | g.108573573G>T | CA413920689 | COL4A5 | c.466-1G>T (n.466-1G>T) c.142-1G>T (n.142-1G>T) c.481-1G>T (n.481-1G>T) | |
X | g.108573574G>A | CA413920699 | COL4A5 | c.466G>A (p.Gly156Ser) c.142G>A (p.Gly48Ser) c.481G>A (p.Gly161Ser) | |
X | g.108573574G>C | CA413920697 | COL4A5 | c.466G>C (p.Gly156Arg) c.142G>C (p.Gly48Arg) c.481G>C (p.Gly161Arg) | ClinVar dbSNP |
X | g.108573574G>T | CA413920702 | COL4A5 | c.466G>T (p.Gly156Cys) c.142G>T (p.Gly48Cys) c.481G>T (p.Gly161Cys) | |
X | g.108573575G>A | CA413920705 | COL4A5 | c.467G>A (p.Gly156Asp) c.143G>A (p.Gly48Asp) c.482G>A (p.Gly161Asp) | ClinVar COSMIC |
X | g.108573575G>C | CA413920711 | COL4A5 | c.467G>C (p.Gly156Ala) c.143G>C (p.Gly48Ala) c.482G>C (p.Gly161Ala) | |
X | g.108573575G= | CA2450680713 | COL4A5 | c.467G= (p.Gly156=) c.143G= (p.Gly48=) c.482G= (p.Gly161=) | |
X | g.108573575G>T | CA413920707 | COL4A5 | c.467G>T (p.Gly156Val) c.143G>T (p.Gly48Val) c.482G>T (p.Gly161Val) | ClinVar dbSNP |
X | g.108573576T>A | CA517991591 | COL4A5 | c.468T>A (p.Gly156=) c.144T>A (p.Gly48=) c.483T>A (p.Gly161=) | |
X | g.108573576T>C | CA517991592 | COL4A5 | c.468T>C (p.Gly156=) c.144T>C (p.Gly48=) c.483T>C (p.Gly161=) | |
X | g.108573576T>G | CA517991593 | COL4A5 | c.468T>G (p.Gly156=) c.144T>G (p.Gly48=) c.483T>G (p.Gly161=) | |
X | g.108573577G>A | CA413920714 | COL4A5 | c.469G>A (p.Glu157Lys) c.145G>A (p.Glu49Lys) c.484G>A (p.Glu162Lys) | gnomAD v4 |
X | g.108573577G>C | CA413920716 | COL4A5 | c.469G>C (p.Glu157Gln) c.145G>C (p.Glu49Gln) c.484G>C (p.Glu162Gln) | |
X | g.108573577G>T | CA413920718 | COL4A5 | c.469G>T (p.Glu157Ter) c.145G>T (p.Glu49Ter) c.484G>T (p.Glu162Ter) | ClinVar |
X | g.108573578A>C | CA413920723 | COL4A5 | c.470A>C (p.Glu157Ala) c.146A>C (p.Glu49Ala) c.485A>C (p.Glu162Ala) | |
X | g.108573578A>G | CA413920725 | COL4A5 | c.470A>G (p.Glu157Gly) c.146A>G (p.Glu49Gly) c.485A>G (p.Glu162Gly) | |
X | g.108573578A>T | CA413920728 | COL4A5 | c.470A>T (p.Glu157Val) c.146A>T (p.Glu49Val) c.485A>T (p.Glu162Val) | |
X | g.108573579A>C | CA413920731 | COL4A5 | c.471A>C (p.Glu157Asp) c.147A>C (p.Glu49Asp) c.486A>C (p.Glu162Asp) | |
X | g.108573579A>G | CA517991594 | COL4A5 | c.471A>G (p.Glu157=) c.147A>G (p.Glu49=) c.486A>G (p.Glu162=) | |
X | g.108573579A>T | CA413920732 | COL4A5 | c.471A>T (p.Glu157Asp) c.147A>T (p.Glu49Asp) c.486A>T (p.Glu162Asp) | |
X | g.108573580C>A | CA413920735 | COL4A5 | c.472C>A (p.Pro158Thr) c.148C>A (p.Pro50Thr) c.487C>A (p.Pro163Thr) | gnomAD v4 |
X | g.108573580C>G | CA413920738 | COL4A5 | c.472C>G (p.Pro158Ala) c.148C>G (p.Pro50Ala) c.487C>G (p.Pro163Ala) | |
X | g.108573580C>T | CA413920740 | COL4A5 | c.472C>T (p.Pro158Ser) c.148C>T (p.Pro50Ser) c.487C>T (p.Pro163Ser) | |
X | g.108573581C>A | CA413920748 | COL4A5 | c.473C>A (p.Pro158Gln) c.149C>A (p.Pro50Gln) c.488C>A (p.Pro163Gln) | |
X | g.108573581C>G | CA413920743 | COL4A5 | c.473C>G (p.Pro158Arg) c.149C>G (p.Pro50Arg) c.488C>G (p.Pro163Arg) | gnomAD v4 |
X | g.108573581C>T | CA413920744 | COL4A5 | c.473C>T (p.Pro158Leu) c.149C>T (p.Pro50Leu) c.488C>T (p.Pro163Leu) | |
X | g.108573582A>C | CA517991595 | COL4A5 | c.474A>C (p.Pro158=) c.150A>C (p.Pro50=) c.489A>C (p.Pro163=) | |
X | g.108573582A>G | CA517991596 | COL4A5 | c.474A>G (p.Pro158=) c.150A>G (p.Pro50=) c.489A>G (p.Pro163=) | gnomAD v4 |
X | g.108573582A>T | CA517991597 | COL4A5 | c.474A>T (p.Pro158=) c.150A>T (p.Pro50=) c.489A>T (p.Pro163=) | |
X | g.108573582_108573583delinsAG | CA2450680714 | COL4A5 | c.474_475delinsAG (p.Pro158=) c.150_151delinsAG (p.Pro50=) c.489_490delinsAG (p.Pro163=) | |
X | g.108573583G>A | CA413920752 | COL4A5 | c.475G>A (p.Gly159Ser) c.151G>A (p.Gly51Ser) c.490G>A (p.Gly164Ser) | gnomAD v4 |
X | g.108573583G>C | CA413920754 | COL4A5 | c.475G>C (p.Gly159Arg) c.151G>C (p.Gly51Arg) c.490G>C (p.Gly164Arg) | |
X | g.108573583G>T | CA413920756 | COL4A5 | c.475G>T (p.Gly159Cys) c.151G>T (p.Gly51Cys) c.490G>T (p.Gly164Cys) | |
X | g.108573584del | CA261042 | COL4A5 | c.476del (p.Gly159ValfsTer3) c.152del (p.Gly51ValfsTer3) c.491del (p.Gly164ValfsTer3) | dbSNP |
X | g.108573583_108573585delinsGGT | CA2450680715 | COL4A5 | c.475_477delinsGGT (p.Gly159=) c.151_153delinsGGT (p.Gly51=) c.490_492delinsGGT (p.Gly164=) | |
X | g.108573584G>A | CA413920761 | COL4A5 | c.476G>A (p.Gly159Asp) c.152G>A (p.Gly51Asp) c.491G>A (p.Gly164Asp) | ClinVar dbSNP |
X | g.108573584G>C | CA413920763 | COL4A5 | c.476G>C (p.Gly159Ala) c.152G>C (p.Gly51Ala) c.491G>C (p.Gly164Ala) | |
X | g.108573584G>T | CA413920766 | COL4A5 | c.476G>T (p.Gly159Val) c.152G>T (p.Gly51Val) c.491G>T (p.Gly164Val) | ClinVar |
X | g.108573584_108573585del | CA2450680716 | COL4A5 | c.476_477del (p.Gly159GlufsTer13) c.152_153del (p.Gly51GlufsTer13) c.491_492del (p.Gly164GlufsTer13) | dbSNP |
X | g.108573585T>A | CA517991599 | COL4A5 | c.477T>A (p.Gly159=) c.153T>A (p.Gly51=) c.492T>A (p.Gly164=) | |
X | g.108573585T>C | CA517991598 | COL4A5 | c.477T>C (p.Gly159=) c.153T>C (p.Gly51=) c.492T>C (p.Gly164=) | |
X | g.108573585T>G | CA517991600 | COL4A5 | c.477T>G (p.Gly159=) c.153T>G (p.Gly51=) c.492T>G (p.Gly164=) | |
X | g.108573586A>C | CA413920770 | COL4A5 | c.478A>C (p.Ser160Arg) c.154A>C (p.Ser52Arg) c.493A>C (p.Ser165Arg) | |
X | g.108573586A>G | CA413920773 | COL4A5 | c.478A>G (p.Ser160Gly) c.154A>G (p.Ser52Gly) c.493A>G (p.Ser165Gly) | |
X | g.108573586A>T | CA413920775 | COL4A5 | c.478A>T (p.Ser160Cys) c.154A>T (p.Ser52Cys) c.493A>T (p.Ser165Cys) | |
X | g.108573586_108573588delinsAGT | CA2450680717 | COL4A5 | c.478_480delinsAGT (p.Ser160=) c.154_156delinsAGT (p.Ser52=) c.493_495delinsAGT (p.Ser165=) | |
X | g.108573587G>A | CA334179514 | COL4A5 | c.479G>A (p.Ser160Asn) c.155G>A (p.Ser52Asn) c.494G>A (p.Ser165Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573587G>C | CA413920780 | COL4A5 | c.479G>C (p.Ser160Thr) c.155G>C (p.Ser52Thr) c.494G>C (p.Ser165Thr) | gnomAD v4 |
X | g.108573587G= | CA2450680719 | COL4A5 | c.479G= (p.Ser160=) c.155G= (p.Ser52=) c.494G= (p.Ser165=) | |
X | g.108573587G>T | CA413920777 | COL4A5 | c.479G>T (p.Ser160Ile) c.155G>T (p.Ser52Ile) c.494G>T (p.Ser165Ile) | |
X | g.108573587_108573588del | CA2450680718 | COL4A5 | c.479_480del (p.Ser160AsnfsTer12) c.155_156del (p.Ser52AsnfsTer12) c.494_495del (p.Ser165AsnfsTer12) | dbSNP |
X | g.108573588T>A | CA413920783 | COL4A5 | c.480T>A (p.Ser160Arg) c.156T>A (p.Ser52Arg) c.495T>A (p.Ser165Arg) | |
X | g.108573588T>C | CA517991601 | COL4A5 | c.480T>C (p.Ser160=) c.156T>C (p.Ser52=) c.495T>C (p.Ser165=) | gnomAD v4 |
X | g.108573588T>G | CA413920785 | COL4A5 | c.480T>G (p.Ser160Arg) c.156T>G (p.Ser52Arg) c.495T>G (p.Ser165Arg) | |
X | g.108573589A= | CA2450680720 | COL4A5 | c.481A= (p.Ile161=) c.157A= (p.Ile53=) c.496A= (p.Ile166=) | |
X | g.108573589A>C | CA413920788 | COL4A5 | c.481A>C (p.Ile161Leu) c.157A>C (p.Ile53Leu) c.496A>C (p.Ile166Leu) | |
X | g.108573589A>G | CA413920790 | COL4A5 | c.481A>G (p.Ile161Val) c.157A>G (p.Ile53Val) c.496A>G (p.Ile166Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573589A>T | CA413920792 | COL4A5 | c.481A>T (p.Ile161Leu) c.157A>T (p.Ile53Leu) c.496A>T (p.Ile166Leu) | |
X | g.108573590T>A | CA413920794 | COL4A5 | c.482T>A (p.Ile161Lys) c.158T>A (p.Ile53Lys) c.497T>A (p.Ile166Lys) | |
X | g.108573590T>C | CA413920796 | COL4A5 | c.482T>C (p.Ile161Thr) c.158T>C (p.Ile53Thr) c.497T>C (p.Ile166Thr) | |
X | g.108573590T>G | CA413920798 | COL4A5 | c.482T>G (p.Ile161Arg) c.158T>G (p.Ile53Arg) c.497T>G (p.Ile166Arg) | |
X | g.108573591A>C | CA517991602 | COL4A5 | c.483A>C (p.Ile161=) c.159A>C (p.Ile53=) c.498A>C (p.Ile166=) | |
X | g.108573591A>G | CA413920800 | COL4A5 | c.483A>G (p.Ile161Met) c.159A>G (p.Ile53Met) c.498A>G (p.Ile166Met) | |
X | g.108573591A>T | CA517991603 | COL4A5 | c.483A>T (p.Ile161=) c.159A>T (p.Ile53=) c.498A>T (p.Ile166=) | |
X | g.108573592A>C | CA413920803 | COL4A5 | c.484A>C (p.Ile162Leu) c.160A>C (p.Ile54Leu) c.499A>C (p.Ile167Leu) | |
X | g.108573592A>G | CA413920806 | COL4A5 | c.484A>G (p.Ile162Val) c.160A>G (p.Ile54Val) c.499A>G (p.Ile167Val) | |
X | g.108573592A>T | CA413920807 | COL4A5 | c.484A>T (p.Ile162Phe) c.160A>T (p.Ile54Phe) c.499A>T (p.Ile167Phe) | |
X | g.108573593T>A | CA413920814 | COL4A5 | c.485T>A (p.Ile162Asn) c.161T>A (p.Ile54Asn) c.500T>A (p.Ile167Asn) | |
X | g.108573593T>C | CA413920810 | COL4A5 | c.485T>C (p.Ile162Thr) c.161T>C (p.Ile54Thr) c.500T>C (p.Ile167Thr) | |
X | g.108573593T>G | CA413920812 | COL4A5 | c.485T>G (p.Ile162Ser) c.161T>G (p.Ile54Ser) c.500T>G (p.Ile167Ser) | |
X | g.108573594T>A | CA517991604 | COL4A5 | c.486T>A (p.Ile162=) c.162T>A (p.Ile54=) c.501T>A (p.Ile167=) | |
X | g.108573594T>C | CA517991605 | COL4A5 | c.486T>C (p.Ile162=) c.162T>C (p.Ile54=) c.501T>C (p.Ile167=) | |
X | g.108573594T>G | CA413920817 | COL4A5 | c.486T>G (p.Ile162Met) c.162T>G (p.Ile54Met) c.501T>G (p.Ile167Met) | |
X | g.108573595A= | CA2450680721 | COL4A5 | c.487A= (p.Met163=) c.163A= (p.Met55=) c.502A= (p.Met168=) | |
X | g.108573595A>C | CA413920820 | COL4A5 | c.487A>C (p.Met163Leu) c.163A>C (p.Met55Leu) c.502A>C (p.Met168Leu) | |
X | g.108573595A>G | CA413920823 | COL4A5 | c.487A>G (p.Met163Val) c.163A>G (p.Met55Val) c.502A>G (p.Met168Val) | dbSNP COSMIC |
X | g.108573595A>T | CA413920825 | COL4A5 | c.487A>T (p.Met163Leu) c.163A>T (p.Met55Leu) c.502A>T (p.Met168Leu) | |
X | g.108573596T>A | CA413920828 | COL4A5 | c.488T>A (p.Met163Lys) c.164T>A (p.Met55Lys) c.503T>A (p.Met168Lys) | |
X | g.108573596T>C | CA10488477 | COL4A5 | c.488T>C (p.Met163Thr) c.164T>C (p.Met55Thr) c.503T>C (p.Met168Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573596T>G | CA413920833 | COL4A5 | c.488T>G (p.Met163Arg) c.164T>G (p.Met55Arg) c.503T>G (p.Met168Arg) | |
X | g.108573596T= | CA2450680722 | COL4A5 | c.488T= (p.Met163=) c.164T= (p.Met55=) c.503T= (p.Met168=) | |
X | g.108573597G>A | CA413920836 | COL4A5 | c.489G>A (p.Met163Ile) c.165G>A (p.Met55Ile) c.504G>A (p.Met168Ile) | |
X | g.108573597G>C | CA413920838 | COL4A5 | c.489G>C (p.Met163Ile) c.165G>C (p.Met55Ile) c.504G>C (p.Met168Ile) | |
X | g.108573597G>T | CA413920840 | COL4A5 | c.489G>T (p.Met163Ile) c.165G>T (p.Met55Ile) c.504G>T (p.Met168Ile) | |
X | g.108573598T>A | CA413920844 | COL4A5 | c.490T>A (p.Ser164Thr) c.166T>A (p.Ser56Thr) c.505T>A (p.Ser169Thr) | |
X | g.108573598T>C | CA413920846 | COL4A5 | c.490T>C (p.Ser164Pro) c.166T>C (p.Ser56Pro) c.505T>C (p.Ser169Pro) | gnomAD v4 |
X | g.108573598T>G | CA413920848 | COL4A5 | c.490T>G (p.Ser164Ala) c.166T>G (p.Ser56Ala) c.505T>G (p.Ser169Ala) | |
X | g.108573599C>A | CA413920852 | COL4A5 | c.491C>A (p.Ser164Ter) c.167C>A (p.Ser56Ter) c.506C>A (p.Ser169Ter) | gnomAD v4 |
X | g.108573599C>G | CA413920854 | COL4A5 | c.491C>G (p.Ser164Ter) c.167C>G (p.Ser56Ter) c.506C>G (p.Ser169Ter) | |
X | g.108573599C>T | CA413920851 | COL4A5 | c.491C>T (p.Ser164Leu) c.167C>T (p.Ser56Leu) c.506C>T (p.Ser169Leu) | gnomAD v4 |
X | g.108573600A= | CA2450680723 | COL4A5 | c.492A= (p.Ser164=) c.168A= (p.Ser56=) c.507A= (p.Ser169=) | |
X | g.108573600A>C | CA517991608 | COL4A5 | c.492A>C (p.Ser164=) c.168A>C (p.Ser56=) c.507A>C (p.Ser169=) | |
X | g.108573600A>G | CA517991607 | COL4A5 | c.492A>G (p.Ser164=) c.168A>G (p.Ser56=) c.507A>G (p.Ser169=) | dbSNP |
X | g.108573600A>T | CA517991606 | COL4A5 | c.492A>T (p.Ser164=) c.168A>T (p.Ser56=) c.507A>T (p.Ser169=) | |
X | g.108573601T>A | CA413920860 | COL4A5 | c.493T>A (p.Ser165Thr) c.169T>A (p.Ser57Thr) c.508T>A (p.Ser170Thr) | |
X | g.108573601T>C | CA10488478 | COL4A5 | c.493T>C (p.Ser165Pro) c.169T>C (p.Ser57Pro) c.508T>C (p.Ser170Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108573601T>G | CA413920858 | COL4A5 | c.493T>G (p.Ser165Ala) c.169T>G (p.Ser57Ala) c.508T>G (p.Ser170Ala) | |
X | g.108573601T= | CA2450680724 | COL4A5 | c.493T= (p.Ser165=) c.169T= (p.Ser57=) c.508T= (p.Ser170=) | |
X | g.108573602C>A | CA413920863 | COL4A5 | c.494C>A (p.Ser165Ter) c.170C>A (p.Ser57Ter) c.509C>A (p.Ser170Ter) | ClinVar dbSNP |
X | g.108573602C= | CA2450680726 | COL4A5 | c.494C= (p.Ser165=) c.170C= (p.Ser57=) c.509C= (p.Ser170=) | |
X | g.108573602C>G | CA413920865 | COL4A5 | c.494C>G (p.Ser165Ter) c.170C>G (p.Ser57Ter) c.509C>G (p.Ser170Ter) | ClinVar dbSNP |
X | g.108573602C>T | CA413920868 | COL4A5 | c.494C>T (p.Ser165Leu) c.170C>T (p.Ser57Leu) c.509C>T (p.Ser170Leu) | gnomAD v4 |
X | g.108573603A>C | CA517991609 | COL4A5 | c.495A>C (p.Ser165=) c.171A>C (p.Ser57=) c.510A>C (p.Ser170=) | |
X | g.108573603A>G | CA517991610 | COL4A5 | c.495A>G (p.Ser165=) c.171A>G (p.Ser57=) c.510A>G (p.Ser170=) | |
X | g.108573603A>T | CA517991611 | COL4A5 | c.495A>T (p.Ser165=) c.171A>T (p.Ser57=) c.510A>T (p.Ser170=) | |
X | g.108573604C>A | CA413920870 | COL4A5 | c.496C>A (p.Leu166Met) c.172C>A (p.Leu58Met) c.511C>A (p.Leu171Met) | |
X | g.108573604C>G | CA413920872 | COL4A5 | c.496C>G (p.Leu166Val) c.172C>G (p.Leu58Val) c.511C>G (p.Leu171Val) | |
X | g.108573604C>T | CA517991612 | COL4A5 | c.496C>T (p.Leu166=) c.172C>T (p.Leu58=) c.511C>T (p.Leu171=) | ClinVar |
X | g.108573605T>A | CA413920875 | COL4A5 | c.497T>A (p.Leu166Gln) c.173T>A (p.Leu58Gln) c.512T>A (p.Leu171Gln) | |
X | g.108573605T>C | CA413920877 | COL4A5 | c.497T>C (p.Leu166Pro) c.173T>C (p.Leu58Pro) c.512T>C (p.Leu171Pro) | |
X | g.108573605T>G | CA413920880 | COL4A5 | c.497T>G (p.Leu166Arg) c.173T>G (p.Leu58Arg) c.512T>G (p.Leu171Arg) | |
X | g.108573606G>A | CA517991613 | COL4A5 | c.498G>A (p.Leu166=) c.174G>A (p.Leu58=) c.513G>A (p.Leu171=) | |
X | g.108573606G>C | CA517991614 | COL4A5 | c.498G>C (p.Leu166=) c.174G>C (p.Leu58=) c.513G>C (p.Leu171=) | |
X | g.108573606G>T | CA517991615 | COL4A5 | c.498G>T (p.Leu166=) c.174G>T (p.Leu58=) c.513G>T (p.Leu171=) | gnomAD v4 |
X | g.108573607_108573620del | CA2535902988 | COL4A5 | c.499_512del (p.Pro167Ter) c.175_188del (p.Pro59Ter) c.514_527del (p.Pro172Ter) | |
X | g.108573607C>A | CA413920883 | COL4A5 | c.499C>A (p.Pro167Thr) c.175C>A (p.Pro59Thr) c.514C>A (p.Pro172Thr) | |
X | g.108573607C>G | CA413920886 | COL4A5 | c.499C>G (p.Pro167Ala) c.175C>G (p.Pro59Ala) c.514C>G (p.Pro172Ala) | |
X | g.108573607C>T | CA413920889 | COL4A5 | c.499C>T (p.Pro167Ser) c.175C>T (p.Pro59Ser) c.514C>T (p.Pro172Ser) | COSMIC COSMIC |
X | g.108573608del | CA2695235179 | COL4A5 | c.500del (p.Pro167GlnfsTer?) c.176del (p.Pro59GlnfsTer?) c.515del (p.Pro172GlnfsTer?) | |
X | g.108573608C>A | CA413920896 | COL4A5 | c.500C>A (p.Pro167Gln) c.176C>A (p.Pro59Gln) c.515C>A (p.Pro172Gln) | dbSNP |
X | g.108573608C= | CA2450680727 | COL4A5 | c.500C= (p.Pro167=) c.176C= (p.Pro59=) c.515C= (p.Pro172=) | |
X | g.108573608C>G | CA413920892 | COL4A5 | c.500C>G (p.Pro167Arg) c.176C>G (p.Pro59Arg) c.515C>G (p.Pro172Arg) | |
X | g.108573608C>T | CA413920893 | COL4A5 | c.500C>T (p.Pro167Leu) c.176C>T (p.Pro59Leu) c.515C>T (p.Pro172Leu) | |
X | g.108573609A>C | CA517991616 | COL4A5 | c.501A>C (p.Pro167=) c.177A>C (p.Pro59=) c.516A>C (p.Pro172=) | ClinVar |
X | g.108573609A>G | CA517991617 | COL4A5 | c.501A>G (p.Pro167=) c.177A>G (p.Pro59=) c.516A>G (p.Pro172=) | ClinVar gnomAD v4 |
X | g.108573609A>T | CA517991618 | COL4A5 | c.501A>T (p.Pro167=) c.177A>T (p.Pro59=) c.516A>T (p.Pro172=) | |
X | g.108573610G>A | CA413920899 | COL4A5 | c.502G>A (p.Gly168Arg) c.178G>A (p.Gly60Arg) c.517G>A (p.Gly173Arg) | gnomAD v4 COSMIC COSMIC |
X | g.108573610G>C | CA413920903 | COL4A5 | c.502G>C (p.Gly168Arg) c.178G>C (p.Gly60Arg) c.517G>C (p.Gly173Arg) | |
X | g.108573610G>T | CA413920904 | COL4A5 | c.502G>T (p.Gly168Ter) c.178G>T (p.Gly60Ter) c.517G>T (p.Gly173Ter) | |
X | g.108573611G>A | CA413920907 | COL4A5 | c.503G>A (p.Gly168Glu) c.179G>A (p.Gly60Glu) c.518G>A (p.Gly173Glu) | |
X | g.108573611G>C | CA413920909 | COL4A5 | c.503G>C (p.Gly168Ala) c.179G>C (p.Gly60Ala) c.518G>C (p.Gly173Ala) | |
X | g.108573611G>T | CA413920911 | COL4A5 | c.503G>T (p.Gly168Val) c.179G>T (p.Gly60Val) c.518G>T (p.Gly173Val) | |
X | g.108573612A>C | CA517991619 | COL4A5 | c.504A>C (p.Gly168=) c.180A>C (p.Gly60=) c.519A>C (p.Gly173=) | |
X | g.108573612A>G | CA517991620 | COL4A5 | c.504A>G (p.Gly168=) c.180A>G (p.Gly60=) c.519A>G (p.Gly173=) | |
X | g.108573612A>T | CA517991621 | COL4A5 | c.504A>T (p.Gly168=) c.180A>T (p.Gly60=) c.519A>T (p.Gly173=) | gnomAD v4 |
X | g.108573613C>A | CA413920912 | COL4A5 | c.505C>A (p.Pro169Thr) c.181C>A (p.Pro61Thr) c.520C>A (p.Pro174Thr) | |
X | g.108573613C>G | CA413920915 | COL4A5 | c.505C>G (p.Pro169Ala) c.181C>G (p.Pro61Ala) c.520C>G (p.Pro174Ala) | |
X | g.108573613C>T | CA413920917 | COL4A5 | c.505C>T (p.Pro169Ser) c.181C>T (p.Pro61Ser) c.520C>T (p.Pro174Ser) | COSMIC COSMIC |
X | g.108573614C>A | CA413920920 | COL4A5 | c.506C>A (p.Pro169Gln) c.182C>A (p.Pro61Gln) c.521C>A (p.Pro174Gln) | gnomAD v4 |
X | g.108573614C>G | CA413920921 | COL4A5 | c.506C>G (p.Pro169Arg) c.182C>G (p.Pro61Arg) c.521C>G (p.Pro174Arg) | |
X | g.108573614C>T | CA413920924 | COL4A5 | c.506C>T (p.Pro169Leu) c.182C>T (p.Pro61Leu) c.521C>T (p.Pro174Leu) | |
X | g.108573615A>C | CA517991622 | COL4A5 | c.507A>C (p.Pro169=) c.183A>C (p.Pro61=) c.522A>C (p.Pro174=) | |
X | g.108573615A>G | CA517991623 | COL4A5 | c.507A>G (p.Pro169=) c.183A>G (p.Pro61=) c.522A>G (p.Pro174=) | |
X | g.108573615A>T | CA517991624 | COL4A5 | c.507A>T (p.Pro169=) c.183A>T (p.Pro61=) c.522A>T (p.Pro174=) | |
X | g.108573617del | CA2579675876 | COL4A5 | c.509del (p.Lys170ArgfsTer?) c.185del (p.Lys62ArgfsTer?) c.524del (p.Lys175ArgfsTer?) | |
X | g.108573616A>C | CA413920932 | COL4A5 | c.508A>C (p.Lys170Gln) c.184A>C (p.Lys62Gln) c.523A>C (p.Lys175Gln) | |
X | g.108573616A>G | CA413920929 | COL4A5 | c.508A>G (p.Lys170Glu) c.184A>G (p.Lys62Glu) c.523A>G (p.Lys175Glu) | |
X | g.108573616A>T | CA413920928 | COL4A5 | c.508A>T (p.Lys170Ter) c.184A>T (p.Lys62Ter) c.523A>T (p.Lys175Ter) | |
X | g.108573617A>C | CA413920935 | COL4A5 | c.509A>C (p.Lys170Thr) c.185A>C (p.Lys62Thr) c.524A>C (p.Lys175Thr) | |
X | g.108573617A>G | CA413920937 | COL4A5 | c.509A>G (p.Lys170Arg) c.185A>G (p.Lys62Arg) c.524A>G (p.Lys175Arg) | |
X | g.108573617A>T | CA413920939 | COL4A5 | c.509A>T (p.Lys170Met) c.185A>T (p.Lys62Met) c.524A>T (p.Lys175Met) | |
X | g.108573618G>A | CA517991625 | COL4A5 | c.510G>A (p.Lys170=) c.186G>A (p.Lys62=) c.525G>A (p.Lys175=) | |
X | g.108573618G>C | CA413920943 | COL4A5 | c.510G>C (p.Lys170Asn) c.186G>C (p.Lys62Asn) c.525G>C (p.Lys175Asn) | |
X | g.108573618G>T | CA413920945 | COL4A5 | c.510G>T (p.Lys170Asn) c.186G>T (p.Lys62Asn) c.525G>T (p.Lys175Asn) | |
X | g.108573619G>A | CA413920954 | COL4A5 | c.511G>A (p.Gly171Ser) c.187G>A (p.Gly63Ser) c.526G>A (p.Gly176Ser) | ClinVar dbSNP |
X | g.108573619G>C | CA413920951 | COL4A5 | c.511G>C (p.Gly171Arg) c.187G>C (p.Gly63Arg) c.526G>C (p.Gly176Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108573619G= | CA2450680728 | COL4A5 | c.511G= (p.Gly171=) c.187G= (p.Gly63=) c.526G= (p.Gly176=) | |
X | g.108573619G>T | CA413920949 | COL4A5 | c.511G>T (p.Gly171Cys) c.187G>T (p.Gly63Cys) c.526G>T (p.Gly176Cys) | ClinVar |
X | g.108573620G>A | CA413920956 | COL4A5 | c.512G>A (p.Gly171Asp) c.188G>A (p.Gly63Asp) c.527G>A (p.Gly176Asp) | |
X | g.108573620G>C | CA413920959 | COL4A5 | c.512G>C (p.Gly171Ala) c.188G>C (p.Gly63Ala) c.527G>C (p.Gly176Ala) | |
X | g.108573620G>T | CA413920962 | COL4A5 | c.512G>T (p.Gly171Val) c.188G>T (p.Gly63Val) c.527G>T (p.Gly176Val) | |
X | g.108573621T>A | CA517991628 | COL4A5 | c.513T>A (p.Gly171=) c.189T>A (p.Gly63=) c.528T>A (p.Gly176=) | |
X | g.108573621T>C | CA517991627 | COL4A5 | c.513T>C (p.Gly171=) c.189T>C (p.Gly63=) c.528T>C (p.Gly176=) | |
X | g.108573621T>G | CA517991626 | COL4A5 | c.513T>G (p.Gly171=) c.189T>G (p.Gly63=) c.528T>G (p.Gly176=) | |
X | g.108573622A>C | CA413920963 | COL4A5 | c.514A>C (p.Asn172His) c.190A>C (p.Asn64His) c.529A>C (p.Asn177His) | |
X | g.108573622A>G | CA413920966 | COL4A5 | c.514A>G (p.Asn172Asp) c.190A>G (p.Asn64Asp) c.529A>G (p.Asn177Asp) | gnomAD v4 |
X | g.108573622A>T | CA413920968 | COL4A5 | c.514A>T (p.Asn172Tyr) c.190A>T (p.Asn64Tyr) c.529A>T (p.Asn177Tyr) | |
X | g.108573623del | CA2580100246 | COL4A5 | c.515del (p.Asn172IlefsTer?) c.191del (p.Asn64IlefsTer?) c.530del (p.Asn177IlefsTer?) | ClinVar |
X | g.108573623A>C | CA413920972 | COL4A5 | c.515A>C (p.Asn172Thr) c.191A>C (p.Asn64Thr) c.530A>C (p.Asn177Thr) | |
X | g.108573623A>G | CA413920974 | COL4A5 | c.515A>G (p.Asn172Ser) c.191A>G (p.Asn64Ser) c.530A>G (p.Asn177Ser) | |
X | g.108573623A>T | CA413920973 | COL4A5 | c.515A>T (p.Asn172Ile) c.191A>T (p.Asn64Ile) c.530A>T (p.Asn177Ile) | |
X | g.108573623_108573640del | CA2531530036 | COL4A5 | c.515_532del (p.Asn172_Pro178delinsThr) c.191_208del (p.Asn64_Pro70delinsThr) c.530_547del (p.Asn177_Pro183delinsThr) | |
X | g.108573624T>A | CA413920977 | COL4A5 | c.516T>A (p.Asn172Lys) c.192T>A (p.Asn64Lys) c.531T>A (p.Asn177Lys) | |
X | g.108573624T>C | CA517991629 | COL4A5 | c.516T>C (p.Asn172=) c.192T>C (p.Asn64=) c.531T>C (p.Asn177=) | |
X | g.108573624T>G | CA413920980 | COL4A5 | c.516T>G (p.Asn172Lys) c.192T>G (p.Asn64Lys) c.531T>G (p.Asn177Lys) | |
X | g.108573625C>A | CA413920983 | COL4A5 | c.517C>A (p.Pro173Thr) c.193C>A (p.Pro65Thr) c.532C>A (p.Pro178Thr) | |
X | g.108573625C>G | CA413920984 | COL4A5 | c.517C>G (p.Pro173Ala) c.193C>G (p.Pro65Ala) c.532C>G (p.Pro178Ala) | |
X | g.108573625C>T | CA413920986 | COL4A5 | c.517C>T (p.Pro173Ser) c.193C>T (p.Pro65Ser) c.532C>T (p.Pro178Ser) | |
X | g.108573626C>A | CA413920987 | COL4A5 | c.518C>A (p.Pro173Gln) c.194C>A (p.Pro65Gln) c.533C>A (p.Pro178Gln) | gnomAD v4 |
X | g.108573626C>G | CA413920990 | COL4A5 | c.518C>G (p.Pro173Arg) c.194C>G (p.Pro65Arg) c.533C>G (p.Pro178Arg) | |
X | g.108573626C>T | CA413920994 | COL4A5 | c.518C>T (p.Pro173Leu) c.194C>T (p.Pro65Leu) c.533C>T (p.Pro178Leu) | |
X | g.108573627A>C | CA517991630 | COL4A5 | c.519A>C (p.Pro173=) c.195A>C (p.Pro65=) c.534A>C (p.Pro178=) | |
X | g.108573627A>G | CA517991632 | COL4A5 | c.519A>G (p.Pro173=) c.195A>G (p.Pro65=) c.534A>G (p.Pro178=) | |
X | g.108573627A>T | CA517991631 | COL4A5 | c.519A>T (p.Pro173=) c.195A>T (p.Pro65=) c.534A>T (p.Pro178=) | |
X | g.108573628G>A | CA413920996 | COL4A5 | c.520G>A (p.Gly174Arg) c.196G>A (p.Gly66Arg) c.535G>A (p.Gly179Arg) | |
X | g.108573628G>C | CA258255 | COL4A5 | c.520G>C (p.Gly174Arg) c.196G>C (p.Gly66Arg) c.535G>C (p.Gly179Arg) | dbSNP |
X | g.108573628G= | CA2450680732 | COL4A5 | c.520G= (p.Gly174=) c.196G= (p.Gly66=) c.535G= (p.Gly179=) | |
X | g.108573628G>T | CA413921000 | COL4A5 | c.520G>T (p.Gly174Ter) c.196G>T (p.Gly66Ter) c.535G>T (p.Gly179Ter) | gnomAD v4 |
X | g.108573629G>A | CA413921009 | COL4A5 | c.521G>A (p.Gly174Glu) c.197G>A (p.Gly66Glu) c.536G>A (p.Gly179Glu) | COSMIC |
X | g.108573629G>C | CA413921006 | COL4A5 | c.521G>C (p.Gly174Ala) c.197G>C (p.Gly66Ala) c.536G>C (p.Gly179Ala) | |
X | g.108573629G>T | CA413921003 | COL4A5 | c.521G>T (p.Gly174Val) c.197G>T (p.Gly66Val) c.536G>T (p.Gly179Val) | |
X | g.108573630A>C | CA517991633 | COL4A5 | c.522A>C (p.Gly174=) c.198A>C (p.Gly66=) c.537A>C (p.Gly179=) | |
X | g.108573630A>G | CA517991634 | COL4A5 | c.522A>G (p.Gly174=) c.198A>G (p.Gly66=) c.537A>G (p.Gly179=) | |
X | g.108573630A>T | CA517991635 | COL4A5 | c.522A>T (p.Gly174=) c.198A>T (p.Gly66=) c.537A>T (p.Gly179=) | |
X | g.108573631T>A | CA413921011 | COL4A5 | c.523T>A (p.Tyr175Asn) c.199T>A (p.Tyr67Asn) c.538T>A (p.Tyr180Asn) | |
X | g.108573631T>C | CA413921015 | COL4A5 | c.523T>C (p.Tyr175His) c.199T>C (p.Tyr67His) c.538T>C (p.Tyr180His) | |
X | g.108573631T>G | CA413921013 | COL4A5 | c.523T>G (p.Tyr175Asp) c.199T>G (p.Tyr67Asp) c.538T>G (p.Tyr180Asp) | |
X | g.108573632A= | CA2450680738 | COL4A5 | c.524A= (p.Tyr175=) c.200A= (p.Tyr67=) c.539A= (p.Tyr180=) | |
X | g.108573632A>C | CA413921018 | COL4A5 | c.524A>C (p.Tyr175Ser) c.200A>C (p.Tyr67Ser) c.539A>C (p.Tyr180Ser) | dbSNP gnomAD v4 |
X | g.108573632A>G | CA413921022 | COL4A5 | c.524A>G (p.Tyr175Cys) c.200A>G (p.Tyr67Cys) c.539A>G (p.Tyr180Cys) | |
X | g.108573632A>T | CA413921020 | COL4A5 | c.524A>T (p.Tyr175Phe) c.200A>T (p.Tyr67Phe) c.539A>T (p.Tyr180Phe) | |
X | g.108573633T>A | CA413921025 | COL4A5 | c.525T>A (p.Tyr175Ter) c.201T>A (p.Tyr67Ter) c.540T>A (p.Tyr180Ter) | |
X | g.108573633T>C | CA517991636 | COL4A5 | c.525T>C (p.Tyr175=) c.201T>C (p.Tyr67=) c.540T>C (p.Tyr180=) | |
X | g.108573633T>G | CA413921027 | COL4A5 | c.525T>G (p.Tyr175Ter) c.201T>G (p.Tyr67Ter) c.540T>G (p.Tyr180Ter) | |
X | g.108573636_108573644del | CA2694411165 | COL4A5 | c.528_536del (p.Gly177_Pro179del) c.204_212del (p.Gly69_Pro71del) c.543_551del (p.Gly182_Pro184del) | gnomAD v4 |
X | g.108573634C>A | CA413921037 | COL4A5 | c.526C>A (p.Pro176Thr) c.202C>A (p.Pro68Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
X | g.108573634C= | CA2450680742 | COL4A5 | c.526C= (p.Pro176=) c.202C= (p.Pro68=) c.541C= (p.Pro181=) | |
X | g.108573634C>G | CA413921040 | COL4A5 | c.526C>G (p.Pro176Ala) c.202C>G (p.Pro68Ala) c.541C>G (p.Pro181Ala) | |
X | g.108573634C>T | CA413921043 | COL4A5 | c.526C>T (p.Pro176Ser) c.202C>T (p.Pro68Ser) c.541C>T (p.Pro181Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573635C>A | CA413921044 | COL4A5 | c.527C>A (p.Pro176Gln) c.203C>A (p.Pro68Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
X | g.108573635C>G | CA413921046 | COL4A5 | c.527C>G (p.Pro176Arg) c.203C>G (p.Pro68Arg) c.542C>G (p.Pro181Arg) | |
X | g.108573635C>T | CA413921048 | COL4A5 | c.527C>T (p.Pro176Leu) c.203C>T (p.Pro68Leu) c.542C>T (p.Pro181Leu) | |
X | g.108573636A= | CA2450680746 | COL4A5 | c.528A= (p.Pro176=) c.204A= (p.Pro68=) c.543A= (p.Pro181=) | |
X | g.108573636A>C | CA517991637 | COL4A5 | c.528A>C (p.Pro176=) c.204A>C (p.Pro68=) c.543A>C (p.Pro181=) | |
X | g.108573636A>G | CA10488479 | COL4A5 | c.528A>G (p.Pro176=) c.204A>G (p.Pro68=) c.543A>G (p.Pro181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573636A>T | CA517991638 | COL4A5 | c.528A>T (p.Pro176=) c.204A>T (p.Pro68=) c.543A>T (p.Pro181=) | |
X | g.108573637G>A | CA413921054 | COL4A5 | c.529G>A (p.Gly177Ser) c.205G>A (p.Gly69Ser) c.544G>A (p.Gly182Ser) | |
X | g.108573637G>C | CA258259 | COL4A5 | c.529G>C (p.Gly177Arg) c.205G>C (p.Gly69Arg) c.544G>C (p.Gly182Arg) | dbSNP |
X | g.108573637G= | CA2450680747 | COL4A5 | c.529G= (p.Gly177=) c.205G= (p.Gly69=) c.544G= (p.Gly182=) | |
X | g.108573637G>T | CA258257 | COL4A5 | c.529G>T (p.Gly177Cys) c.205G>T (p.Gly69Cys) c.544G>T (p.Gly182Cys) | ClinVar dbSNP |
X | g.108573638G>A | CA413921068 | COL4A5 | c.530G>A (p.Gly177Asp) c.206G>A (p.Gly69Asp) c.545G>A (p.Gly182Asp) | ClinVar dbSNP |
X | g.108573638G>C | CA413921062 | COL4A5 | c.530G>C (p.Gly177Ala) c.206G>C (p.Gly69Ala) c.545G>C (p.Gly182Ala) | ClinVar |
X | g.108573638G= | CA2450680751 | COL4A5 | c.530G= (p.Gly177=) c.206G= (p.Gly69=) c.545G= (p.Gly182=) | |
X | g.108573638G>T | CA413921066 | COL4A5 | c.530G>T (p.Gly177Val) c.206G>T (p.Gly69Val) c.545G>T (p.Gly182Val) | |
X | g.108573639T>A | CA517991639 | COL4A5 | c.531T>A (p.Gly177=) c.207T>A (p.Gly69=) c.546T>A (p.Gly182=) | |
X | g.108573639T>C | CA517991640 | COL4A5 | c.531T>C (p.Gly177=) c.207T>C (p.Gly69=) c.546T>C (p.Gly182=) | |
X | g.108573639T>G | CA517991641 | COL4A5 | c.531T>G (p.Gly177=) c.207T>G (p.Gly69=) c.546T>G (p.Gly182=) | |
X | g.108573639_108573640delinsTC | CA2450680755 | COL4A5 | c.531_532delinsTC (p.Gly177=) c.207_208delinsTC (p.Gly69=) c.546_547delinsTC (p.Gly182=) | |
X | g.108573640C>A | CA413921071 | COL4A5 | c.532C>A (p.Pro178Thr) c.208C>A (p.Pro70Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
X | g.108573640C= | CA2450680765 | COL4A5 | c.532C= (p.Pro178=) c.208C= (p.Pro70=) c.547C= (p.Pro183=) | |
X | g.108573640C>G | CA413921073 | COL4A5 | c.532C>G (p.Pro178Ala) c.208C>G (p.Pro70Ala) c.547C>G (p.Pro183Ala) | gnomAD v4 |
X | g.108573640C>T | CA413921076 | COL4A5 | c.532C>T (p.Pro178Ser) c.208C>T (p.Pro70Ser) c.547C>T (p.Pro183Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108573641del | CA258261 | COL4A5 | c.533del (p.Pro178LeufsTer25) c.209del (p.Pro70LeufsTer25) c.548del (p.Pro183LeufsTer25) | dbSNP gnomAD v4 |
X | g.108573641C>A | CA413921081 | COL4A5 | c.533C>A (p.Pro178His) c.209C>A (p.Pro70His) c.548C>A (p.Pro183His) | |
X | g.108573641C>G | CA413921083 | COL4A5 | c.533C>G (p.Pro178Arg) c.209C>G (p.Pro70Arg) c.548C>G (p.Pro183Arg) | |
X | g.108573641C>T | CA413921086 | COL4A5 | c.533C>T (p.Pro178Leu) c.209C>T (p.Pro70Leu) c.548C>T (p.Pro183Leu) | dbSNP |
X | g.108573642T>A | CA517991642 | COL4A5 | c.534T>A (p.Pro178=) c.210T>A (p.Pro70=) c.549T>A (p.Pro183=) | |
X | g.108573642T>C | CA517991644 | COL4A5 | c.534T>C (p.Pro178=) c.210T>C (p.Pro70=) c.549T>C (p.Pro183=) | |
X | g.108573642T>G | CA517991643 | COL4A5 | c.534T>G (p.Pro178=) c.210T>G (p.Pro70=) c.549T>G (p.Pro183=) | |
X | g.108573643C>A | CA413921087 | COL4A5 | c.535C>A (p.Pro179Thr) c.211C>A (p.Pro71Thr) c.550C>A (p.Pro184Thr) | dbSNP |
X | g.108573643C= | CA2450680768 | COL4A5 | c.535C= (p.Pro179=) c.211C= (p.Pro71=) c.550C= (p.Pro184=) | |
X | g.108573643C>G | CA10488480 | COL4A5 | c.535C>G (p.Pro179Ala) c.211C>G (p.Pro71Ala) c.550C>G (p.Pro184Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.108573643C>T | CA413921089 | COL4A5 | c.535C>T (p.Pro179Ser) c.211C>T (p.Pro71Ser) c.550C>T (p.Pro184Ser) | gnomAD v4 COSMIC |
X | g.108573643_108573644del | CA2518470192 | COL4A5 | c.535_536del (p.Pro179TrpfsTer?) c.211_212del (p.Pro71TrpfsTer?) c.550_551del (p.Pro184TrpfsTer?) | |
X | g.108573644C>A | CA413921096 | COL4A5 | c.536C>A (p.Pro179His) c.212C>A (p.Pro71His) c.551C>A (p.Pro184His) | gnomAD v4 |
X | g.108573644C= | CA2450680769 | COL4A5 | c.536C= (p.Pro179=) c.212C= (p.Pro71=) c.551C= (p.Pro184=) | |
X | g.108573644C>G | CA413921093 | COL4A5 | c.536C>G (p.Pro179Arg) c.212C>G (p.Pro71Arg) c.551C>G (p.Pro184Arg) | |
X | g.108573644C>T | CA413921091 | COL4A5 | c.536C>T (p.Pro179Leu) c.212C>T (p.Pro71Leu) c.551C>T (p.Pro184Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573645T>A | CA517991645 | COL4A5 | c.537T>A (p.Pro179=) c.213T>A (p.Pro71=) c.552T>A (p.Pro184=) | |
X | g.108573645T>C | CA517991646 | COL4A5 | c.537T>C (p.Pro179=) c.213T>C (p.Pro71=) c.552T>C (p.Pro184=) | |
X | g.108573645T>G | CA517991647 | COL4A5 | c.537T>G (p.Pro179=) c.213T>G (p.Pro71=) c.552T>G (p.Pro184=) | |
X | g.108573646G>A | CA258262 | COL4A5 | c.538G>A (p.Gly180Arg) c.214G>A (p.Gly72Arg) c.553G>A (p.Gly185Arg) | ClinVar dbSNP |
X | g.108573646G>C | CA413921103 | COL4A5 | c.538G>C (p.Gly180Arg) c.214G>C (p.Gly72Arg) c.553G>C (p.Gly185Arg) | |
X | g.108573646G= | CA2450680772 | COL4A5 | c.538G= (p.Gly180=) c.214G= (p.Gly72=) c.553G= (p.Gly185=) | |
X | g.108573646G>T | CA413921106 | COL4A5 | c.538G>T (p.Gly180Ter) c.214G>T (p.Gly72Ter) c.553G>T (p.Gly185Ter) | |
X | g.108573646_108573647insA | CA2554550267 | COL4A5 | c.538_539insA (p.Gly180GlufsTer?) c.214_215insA (p.Gly72GlufsTer?) c.553_554insA (p.Gly185GlufsTer?) | |
X | g.108573647G>A | CA413921110 | COL4A5 | c.539G>A (p.Gly180Glu) c.215G>A (p.Gly72Glu) c.554G>A (p.Gly185Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108573647G>C | CA413921112 | COL4A5 | c.539G>C (p.Gly180Ala) c.215G>C (p.Gly72Ala) c.554G>C (p.Gly185Ala) | |
X | g.108573647G>T | CA413921114 | COL4A5 | c.539G>T (p.Gly180Val) c.215G>T (p.Gly72Val) c.554G>T (p.Gly185Val) | |
X | g.108573648A>C | CA517991650 | COL4A5 | c.540A>C (p.Gly180=) c.216A>C (p.Gly72=) c.555A>C (p.Gly185=) | |
X | g.108573648A>G | CA517991648 | COL4A5 | c.540A>G (p.Gly180=) c.216A>G (p.Gly72=) c.555A>G (p.Gly185=) | gnomAD v4 |
X | g.108573648A>T | CA517991649 | COL4A5 | c.540A>T (p.Gly180=) c.216A>T (p.Gly72=) c.555A>T (p.Gly185=) | |
X | g.108573649A>C | CA413921119 | COL4A5 | c.541A>C (p.Ile181Leu) c.217A>C (p.Ile73Leu) c.556A>C (p.Ile186Leu) | |
X | g.108573649A>G | CA413921122 | COL4A5 | c.541A>G (p.Ile181Val) c.217A>G (p.Ile73Val) c.556A>G (p.Ile186Val) | |
X | g.108573649A>T | CA413921124 | COL4A5 | c.541A>T (p.Ile181Leu) c.217A>T (p.Ile73Leu) c.556A>T (p.Ile186Leu) | |
X | g.108573649_108573650insC | CA2545068648 | COL4A5 | c.541_542insC (p.Ile181ThrfsTer?) c.217_218insC (p.Ile73ThrfsTer?) c.556_557insC (p.Ile186ThrfsTer?) | |
X | g.108573650T>A | CA413921126 | COL4A5 | c.542T>A (p.Ile181Lys) c.218T>A (p.Ile73Lys) c.557T>A (p.Ile186Lys) | |
X | g.108573650T>C | CA413921129 | COL4A5 | c.542T>C (p.Ile181Thr) c.218T>C (p.Ile73Thr) c.557T>C (p.Ile186Thr) | |
X | g.108573650T>G | CA413921131 | COL4A5 | c.542T>G (p.Ile181Arg) c.218T>G (p.Ile73Arg) c.557T>G (p.Ile186Arg) | |
X | g.108573650_108573657delinsTACAAGTA | CA2450680774 | COL4A5 | c.542_546+3delinsTACAAGTA c.218_222+3delinsTACAAGTA c.557_561+3delinsTACAAGTA | |
X | g.108573651A>C | CA517991651 | COL4A5 | c.543A>C (p.Ile181=) c.219A>C (p.Ile73=) c.558A>C (p.Ile186=) | |
X | g.108573651A>G | CA413921133 | COL4A5 | c.543A>G (p.Ile181Met) c.219A>G (p.Ile73Met) c.558A>G (p.Ile186Met) | gnomAD v4 |
X | g.108573651A>T | CA517991652 | COL4A5 | c.543A>T (p.Ile181=) c.219A>T (p.Ile73=) c.558A>T (p.Ile186=) | |
X | g.108573652_108573658del | CA891843908 | COL4A5 | c.544_546+4del c.220_222+4del c.559_561+4del | |
X | g.108573652C>A | CA413921142 | COL4A5 | c.544C>A (p.Gln182Lys) c.220C>A (p.Gln74Lys) c.559C>A (p.Gln187Lys) | gnomAD v4 |
X | g.108573652C= | CA2450680775 | COL4A5 | c.544C= (p.Gln182=) c.220C= (p.Gln74=) c.559C= (p.Gln187=) | |
X | g.108573652C>G | CA413921137 | COL4A5 | c.544C>G (p.Gln182Glu) c.220C>G (p.Gln74Glu) c.559C>G (p.Gln187Glu) | |
X | g.108573652C>T | CA413921140 | COL4A5 | c.544C>T (p.Gln182Ter) c.220C>T (p.Gln74Ter) c.559C>T (p.Gln187Ter) | gnomAD v4 |
X | g.108573652_108573656delinsCAAGT | CA2450680776 | COL4A5 | c.544_546+2delinsCAAGT c.220_222+2delinsCAAGT c.559_561+2delinsCAAGT | |
X | g.108573652_108573659del | CA2526418618 | COL4A5 | c.544_546+5del c.220_222+5del c.559_561+5del | |
X | g.108573653A= | CA2450680777 | COL4A5 | c.545A= (p.Gln182=) c.221A= (p.Gln74=) c.560A= (p.Gln187=) | |
X | g.108573653A>C | CA413921145 | COL4A5 | c.545A>C (p.Gln182Pro) c.221A>C (p.Gln74Pro) c.560A>C (p.Gln187Pro) | |
X | g.108573653A>G | CA413921147 | COL4A5 | c.545A>G (p.Gln182Arg) c.221A>G (p.Gln74Arg) c.560A>G (p.Gln187Arg) | |
X | g.108573653A>T | CA10488481 | COL4A5 | c.545A>T (p.Gln182Leu) c.221A>T (p.Gln74Leu) c.560A>T (p.Gln187Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573654del | CA2739290559 | COL4A5 | c.546del (p.Gly183AlafsTer20) c.222del (p.Gly75AlafsTer20) c.561del (p.Gly188AlafsTer20) | |
X | g.108573658_108573661del | CA658823829 | COL4A5 | c.546+4_546+7del c.222+4_222+7del c.561+4_561+7del | ClinVar dbSNP |
X | g.108573654A= | CA2450680778 | COL4A5 | c.546A= (p.Gln182=) c.222A= (p.Gln74=) c.561A= (p.Gln187=) | |
X | g.108573654A>C | CA413921152 | COL4A5 | c.546A>C (p.Gln182His) c.222A>C (p.Gln74His) c.561A>C (p.Gln187His) | |
X | g.108573654A>G | CA517991653 | COL4A5 | c.546A>G (p.Gln182=) c.222A>G (p.Gln74=) c.561A>G (p.Gln187=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573654A>T | CA413921154 | COL4A5 | c.546A>T (p.Gln182His) c.222A>T (p.Gln74His) c.561A>T (p.Gln187His) | |
X | g.108573655G>A | CA258265 | COL4A5 | c.546+1G>A (n.546+1G>A) c.222+1G>A (n.222+1G>A) c.561+1G>A (n.561+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108573655G>C | CA413921157 | COL4A5 | c.546+1G>C (n.546+1G>C) c.222+1G>C (n.222+1G>C) c.561+1G>C (n.561+1G>C) | |
X | g.108573655G= | CA2450680779 | COL4A5 | c.546+1G= (n.546+1G=) c.222+1G= (n.222+1G=) c.561+1G= (n.561+1G=) | |
X | g.108573655G>T | CA413921160 | COL4A5 | c.546+1G>T (n.546+1G>T) c.222+1G>T (n.222+1G>T) c.561+1G>T (n.561+1G>T) | |
X | g.108573656T>A | CA413921163 | COL4A5 | c.546+2T>A (n.546+2T>A) c.222+2T>A (n.222+2T>A) c.561+2T>A (n.561+2T>A) | |
X | g.108573656T>C | CA413921165 | COL4A5 | c.546+2T>C (n.546+2T>C) c.222+2T>C (n.222+2T>C) c.561+2T>C (n.561+2T>C) | |
X | g.108573656T>G | CA413921167 | COL4A5 | c.546+2T>G (n.546+2T>G) c.222+2T>G (n.222+2T>G) c.561+2T>G (n.561+2T>G) | ClinVar dbSNP |
X | g.108573656T= | CA2450680781 | COL4A5 | c.546+2T= (n.546+2T=) c.222+2T= (n.222+2T=) c.561+2T= (n.561+2T=) | |
X | g.108573656dup | CA658823830 | COL4A5 | c.546+2dup (n.546+2dup) c.222+2dup (n.222+2dup) c.561+2dup (n.561+2dup) | ClinVar dbSNP |
X | g.108573656_108573657delinsTA | CA2450680780 | COL4A5 | c.546+2_546+3delinsTA (n.546+2_546+3delinsTA) c.222+2_222+3delinsTA (n.222+2_222+3delinsTA) c.561+2_561+3delinsTA (n.561+2_561+3delinsTA) | |
X | g.108573657A= | CA2450680782 | COL4A5 | c.546+3A= (n.546+3A=) c.222+3A= (n.222+3A=) c.561+3A= (n.561+3A=) | |
X | g.108573657A>G | CA2694411172 | COL4A5 | c.546+3A>G (n.546+3A>G) c.222+3A>G (n.222+3A>G) c.561+3A>G (n.561+3A>G) | gnomAD v4 |
X | g.108573658del | CA2450680783 | COL4A5 | c.546+4del (n.546+4del) c.222+4del (n.222+4del) c.561+4del (n.561+4del) | ClinVar dbSNP |
X | g.108573657_108573658insT | CA258266 | COL4A5 | c.546+3_546+4insT (n.546+3_546+4insT) c.222+3_222+4insT (n.222+3_222+4insT) c.561+3_561+4insT (n.561+3_561+4insT) | dbSNP |
X | g.108573658A>G | CA2579675877 | COL4A5 | c.546+4A>G (n.546+4A>G) c.222+4A>G (n.222+4A>G) c.561+4A>G (n.561+4A>G) | ClinVar gnomAD v4 |
X | g.108573659G>C | CA2695235180 | COL4A5 | c.546+5G>C (n.546+5G>C) c.222+5G>C (n.222+5G>C) c.561+5G>C (n.561+5G>C) | |
X | g.108573659G>T | CA915940910 | COL4A5 | c.546+5G>T (n.546+5G>T) c.222+5G>T (n.222+5G>T) c.561+5G>T (n.561+5G>T) | |
X | g.108573660T>A | CA2573159175 | COL4A5 | c.546+6T>A (n.546+6T>A) c.222+6T>A (n.222+6T>A) c.561+6T>A (n.561+6T>A) | ClinVar dbSNP |
X | g.108573660T>C | CA2694411176 | COL4A5 | c.546+6T>C (n.546+6T>C) c.222+6T>C (n.222+6T>C) c.561+6T>C (n.561+6T>C) | gnomAD v4 |
X | g.108573661A>G | CA2694411178 | COL4A5 | c.546+7A>G (n.546+7A>G) c.222+7A>G (n.222+7A>G) c.561+7A>G (n.561+7A>G) | gnomAD v4 |
X | g.108573662T>C | CA2694411179 | COL4A5 | c.546+8T>C (n.546+8T>C) c.222+8T>C (n.222+8T>C) c.561+8T>C (n.561+8T>C) | gnomAD v4 |
X | g.108573663C>A | CA10488482 | COL4A5 | c.546+9C>A (n.546+9C>A) c.222+9C>A (n.222+9C>A) c.561+9C>A (n.561+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573663C= | CA2450680784 | COL4A5 | c.546+9C= (n.546+9C=) c.222+9C= (n.222+9C=) c.561+9C= (n.561+9C=) | |
X | g.108573663C>T | CA2694411186 | COL4A5 | c.546+9C>T (n.546+9C>T) c.222+9C>T (n.222+9C>T) c.561+9C>T (n.561+9C>T) | gnomAD v4 |
X | g.108573664del | CA2694411182 | COL4A5 | c.546+10del (n.546+10del) c.222+10del (n.222+10del) c.561+10del (n.561+10del) | gnomAD v4 |
X | g.108573664C>T | CA2694411190 | COL4A5 | c.546+10C>T (n.546+10C>T) c.222+10C>T (n.222+10C>T) c.561+10C>T (n.561+10C>T) | gnomAD v4 |