Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108578081_108578088del | CA2695235187 | COL4A5 | c.649_656del (p.Asn217LeufsTer9) c.325_332del (p.Asn109LeufsTer9) c.664_671del (p.Asn222LeufsTer9) | |
X | g.108578083T>A | CA413923490 | COL4A5 | c.651T>A (p.Asn217Lys) c.327T>A (p.Asn109Lys) c.666T>A (p.Asn222Lys) | |
X | g.108578083T>C | CA517991748 | COL4A5 | c.651T>C (p.Asn217=) c.327T>C (p.Asn109=) c.666T>C (p.Asn222=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578083T>G | CA413923491 | COL4A5 | c.651T>G (p.Asn217Lys) c.327T>G (p.Asn109Lys) c.666T>G (p.Asn222Lys) | |
X | g.108578083T= | CA2450682221 | COL4A5 | c.651T= (p.Asn217=) c.327T= (p.Asn109=) c.666T= (p.Asn222=) | |
X | g.108578084A>C | CA413923493 | COL4A5 | c.652A>C (p.Met218Leu) c.328A>C (p.Met110Leu) c.667A>C (p.Met223Leu) | |
X | g.108578084A>G | CA413923495 | COL4A5 | c.652A>G (p.Met218Val) c.328A>G (p.Met110Val) c.667A>G (p.Met223Val) | |
X | g.108578084A>T | CA413923518 | COL4A5 | c.652A>T (p.Met218Leu) c.328A>T (p.Met110Leu) c.667A>T (p.Met223Leu) | |
X | g.108578085T>A | CA413923522 | COL4A5 | c.653T>A (p.Met218Lys) c.329T>A (p.Met110Lys) c.668T>A (p.Met223Lys) | |
X | g.108578085T>C | CA413923523 | COL4A5 | c.653T>C (p.Met218Thr) c.329T>C (p.Met110Thr) c.668T>C (p.Met223Thr) | |
X | g.108578085T>G | CA413923524 | COL4A5 | c.653T>G (p.Met218Arg) c.329T>G (p.Met110Arg) c.668T>G (p.Met223Arg) | |
X | g.108578086G>A | CA413923525 | COL4A5 | c.654G>A (p.Met218Ile) c.330G>A (p.Met110Ile) c.669G>A (p.Met223Ile) | gnomAD v4 |
X | g.108578086G>C | CA413923528 | COL4A5 | c.654G>C (p.Met218Ile) c.330G>C (p.Met110Ile) c.669G>C (p.Met223Ile) | |
X | g.108578086G>T | CA413923536 | COL4A5 | c.654G>T (p.Met218Ile) c.330G>T (p.Met110Ile) c.669G>T (p.Met223Ile) | |
X | g.108578087G>A | CA258308 | COL4A5 | c.655G>A (p.Gly219Ser) c.331G>A (p.Gly111Ser) c.670G>A (p.Gly224Ser) | ClinVar dbSNP |
X | g.108578087G>C | CA413923557 | COL4A5 | c.655G>C (p.Gly219Arg) c.331G>C (p.Gly111Arg) c.670G>C (p.Gly224Arg) | |
X | g.108578087G= | CA2450682222 | COL4A5 | c.655G= (p.Gly219=) c.331G= (p.Gly111=) c.670G= (p.Gly224=) | |
X | g.108578087G>T | CA413923540 | COL4A5 | c.655G>T (p.Gly219Cys) c.331G>T (p.Gly111Cys) c.670G>T (p.Gly224Cys) | |
X | g.108578088G>A | CA413923568 | COL4A5 | c.656G>A (p.Gly219Asp) c.332G>A (p.Gly111Asp) c.671G>A (p.Gly224Asp) | |
X | g.108578088G>C | CA413923569 | COL4A5 | c.656G>C (p.Gly219Ala) c.332G>C (p.Gly111Ala) c.671G>C (p.Gly224Ala) | |
X | g.108578088G>T | CA413923570 | COL4A5 | c.656G>T (p.Gly219Val) c.332G>T (p.Gly111Val) c.671G>T (p.Gly224Val) | |
X | g.108578089C>A | CA517991749 | COL4A5 | c.657C>A (p.Gly219=) c.333C>A (p.Gly111=) c.672C>A (p.Gly224=) | gnomAD v4 |
X | g.108578089C>G | CA517991750 | COL4A5 | c.657C>G (p.Gly219=) c.333C>G (p.Gly111=) c.672C>G (p.Gly224=) | |
X | g.108578089C>T | CA517991751 | COL4A5 | c.657C>T (p.Gly219=) c.333C>T (p.Gly111=) c.672C>T (p.Gly224=) | |
X | g.108578090T>A | CA413923571 | COL4A5 | c.658T>A (p.Leu220Ile) c.334T>A (p.Leu112Ile) c.673T>A (p.Leu225Ile) | |
X | g.108578090T>C | CA517991752 | COL4A5 | c.658T>C (p.Leu220=) c.334T>C (p.Leu112=) c.673T>C (p.Leu225=) | |
X | g.108578090T>G | CA413923572 | COL4A5 | c.658T>G (p.Leu220Val) c.334T>G (p.Leu112Val) c.673T>G (p.Leu225Val) | |
X | g.108578091T>A | CA413923574 | COL4A5 | c.659T>A (p.Leu220Ter) c.335T>A (p.Leu112Ter) c.674T>A (p.Leu225Ter) | ClinVar dbSNP |
X | g.108578091T>C | CA413923575 | COL4A5 | c.659T>C (p.Leu220Ser) c.335T>C (p.Leu112Ser) c.674T>C (p.Leu225Ser) | |
X | g.108578091T>G | CA413923576 | COL4A5 | c.659T>G (p.Leu220Ter) c.335T>G (p.Leu112Ter) c.674T>G (p.Leu225Ter) | ClinVar dbSNP |
X | g.108578091T= | CA2450682223 | COL4A5 | c.659T= (p.Leu220=) c.335T= (p.Leu112=) c.674T= (p.Leu225=) | |
X | g.108578092A>C | CA413923577 | COL4A5 | c.660A>C (p.Leu220Phe) c.336A>C (p.Leu112Phe) c.675A>C (p.Leu225Phe) | |
X | g.108578092A>G | CA517991753 | COL4A5 | c.660A>G (p.Leu220=) c.336A>G (p.Leu112=) c.675A>G (p.Leu225=) | |
X | g.108578092A>T | CA413923580 | COL4A5 | c.660A>T (p.Leu220Phe) c.336A>T (p.Leu112Phe) c.675A>T (p.Leu225Phe) | |
X | g.108578094del | CA2695235188 | COL4A5 | c.662del (p.Asn221IlefsTer?) c.338del (p.Asn113IlefsTer?) c.677del (p.Asn226IlefsTer?) | |
X | g.108578093A= | CA2450682224 | COL4A5 | c.661A= (p.Asn221=) c.337A= (p.Asn113=) c.676A= (p.Asn226=) | |
X | g.108578093A>C | CA413923587 | COL4A5 | c.661A>C (p.Asn221His) c.337A>C (p.Asn113His) c.676A>C (p.Asn226His) | |
X | g.108578093A>G | CA413923591 | COL4A5 | c.661A>G (p.Asn221Asp) c.337A>G (p.Asn113Asp) c.676A>G (p.Asn226Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578093A>T | CA413923598 | COL4A5 | c.661A>T (p.Asn221Tyr) c.337A>T (p.Asn113Tyr) c.676A>T (p.Asn226Tyr) | |
X | g.108578094A>C | CA413923606 | COL4A5 | c.662A>C (p.Asn221Thr) c.338A>C (p.Asn113Thr) c.677A>C (p.Asn226Thr) | |
X | g.108578094A>G | CA413923611 | COL4A5 | c.662A>G (p.Asn221Ser) c.338A>G (p.Asn113Ser) c.677A>G (p.Asn226Ser) | COSMIC COSMIC |
X | g.108578094A>T | CA413923601 | COL4A5 | c.662A>T (p.Asn221Ile) c.338A>T (p.Asn113Ile) c.677A>T (p.Asn226Ile) | |
X | g.108578095T>A | CA413923620 | COL4A5 | c.663T>A (p.Asn221Lys) c.339T>A (p.Asn113Lys) c.678T>A (p.Asn226Lys) | |
X | g.108578095T>C | CA517991754 | COL4A5 | c.663T>C (p.Asn221=) c.339T>C (p.Asn113=) c.678T>C (p.Asn226=) | |
X | g.108578095T>G | CA413923622 | COL4A5 | c.663T>G (p.Asn221Lys) c.339T>G (p.Asn113Lys) c.678T>G (p.Asn226Lys) | |
X | g.108578096T>A | CA413923626 | COL4A5 | c.664T>A (p.Phe222Ile) c.340T>A (p.Phe114Ile) c.679T>A (p.Phe227Ile) | |
X | g.108578096T>C | CA413923638 | COL4A5 | c.664T>C (p.Phe222Leu) c.340T>C (p.Phe114Leu) c.679T>C (p.Phe227Leu) | |
X | g.108578096T>G | CA413923631 | COL4A5 | c.664T>G (p.Phe222Val) c.340T>G (p.Phe114Val) c.679T>G (p.Phe227Val) | |
X | g.108578097T>A | CA413923642 | COL4A5 | c.665T>A (p.Phe222Tyr) c.341T>A (p.Phe114Tyr) c.680T>A (p.Phe227Tyr) | |
X | g.108578097T>C | CA413923644 | COL4A5 | c.665T>C (p.Phe222Ser) c.341T>C (p.Phe114Ser) c.680T>C (p.Phe227Ser) | |
X | g.108578097T>G | CA261044 | COL4A5 | c.665T>G (p.Phe222Cys) c.341T>G (p.Phe114Cys) c.680T>G (p.Phe227Cys) | ClinVar dbSNP |
X | g.108578097T= | CA2450682225 | COL4A5 | c.665T= (p.Phe222=) c.341T= (p.Phe114=) c.680T= (p.Phe227=) | |
X | g.108578098C>A | CA413923646 | COL4A5 | c.666C>A (p.Phe222Leu) c.342C>A (p.Phe114Leu) c.681C>A (p.Phe227Leu) | |
X | g.108578098C>G | CA413923651 | COL4A5 | c.666C>G (p.Phe222Leu) c.342C>G (p.Phe114Leu) c.681C>G (p.Phe227Leu) | gnomAD v4 |
X | g.108578098C>T | CA517991755 | COL4A5 | c.666C>T (p.Phe222=) c.342C>T (p.Phe114=) c.681C>T (p.Phe227=) | gnomAD v4 COSMIC COSMIC |
X | g.108578099C>A | CA413923655 | COL4A5 | c.667C>A (p.Gln223Lys) c.343C>A (p.Gln115Lys) c.682C>A (p.Gln228Lys) | |
X | g.108578099C= | CA2450682226 | COL4A5 | c.667C= (p.Gln223=) c.343C= (p.Gln115=) c.682C= (p.Gln228=) | |
X | g.108578099C>G | CA413923663 | COL4A5 | c.667C>G (p.Gln223Glu) c.343C>G (p.Gln115Glu) c.682C>G (p.Gln228Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578099C>T | CA413923669 | COL4A5 | c.667C>T (p.Gln223Ter) c.343C>T (p.Gln115Ter) c.682C>T (p.Gln228Ter) | |
X | g.108578100del | CA2579675938 | COL4A5 | c.668del (p.Gln223ArgfsTer?) c.344del (p.Gln115ArgfsTer?) c.683del (p.Gln228ArgfsTer?) | |
X | g.108578100A>C | CA413923671 | COL4A5 | c.668A>C (p.Gln223Pro) c.344A>C (p.Gln115Pro) c.683A>C (p.Gln228Pro) | |
X | g.108578100A>G | CA413923672 | COL4A5 | c.668A>G (p.Gln223Arg) c.344A>G (p.Gln115Arg) c.683A>G (p.Gln228Arg) | gnomAD v4 |
X | g.108578100A>T | CA413923673 | COL4A5 | c.668A>T (p.Gln223Leu) c.344A>T (p.Gln115Leu) c.683A>T (p.Gln228Leu) | |
X | g.108578101G>A | CA517991756 | COL4A5 | c.669G>A (p.Gln223=) c.345G>A (p.Gln115=) c.684G>A (p.Gln228=) | |
X | g.108578101G>C | CA413923674 | COL4A5 | c.669G>C (p.Gln223His) c.345G>C (p.Gln115His) c.684G>C (p.Gln228His) | |
X | g.108578101G>T | CA413923677 | COL4A5 | c.669G>T (p.Gln223His) c.345G>T (p.Gln115His) c.684G>T (p.Gln228His) | |
X | g.108578102G>A | CA413923680 | COL4A5 | c.670G>A (p.Gly224Arg) c.346G>A (p.Gly116Arg) c.685G>A (p.Gly229Arg) | ClinVar dbSNP |
X | g.108578102G>C | CA413923684 | COL4A5 | c.670G>C (p.Gly224Arg) c.346G>C (p.Gly116Arg) c.685G>C (p.Gly229Arg) | |
X | g.108578102G>T | CA413923682 | COL4A5 | c.670G>T (p.Gly224Ter) c.346G>T (p.Gly116Ter) c.685G>T (p.Gly229Ter) | |
X | g.108578103G>A | CA413923691 | COL4A5 | c.671G>A (p.Gly224Glu) c.347G>A (p.Gly116Glu) c.686G>A (p.Gly229Glu) | |
X | g.108578103G>C | CA413923693 | COL4A5 | c.671G>C (p.Gly224Ala) c.347G>C (p.Gly116Ala) c.686G>C (p.Gly229Ala) | |
X | g.108578103G>T | CA413923698 | COL4A5 | c.671G>T (p.Gly224Val) c.347G>T (p.Gly116Val) c.686G>T (p.Gly229Val) | ClinVar dbSNP |
X | g.108578104A>C | CA517991758 | COL4A5 | c.672A>C (p.Gly224=) c.348A>C (p.Gly116=) c.687A>C (p.Gly229=) | |
X | g.108578104A>G | CA517991759 | COL4A5 | c.672A>G (p.Gly224=) c.348A>G (p.Gly116=) c.687A>G (p.Gly229=) | |
X | g.108578104A>T | CA517991757 | COL4A5 | c.672A>T (p.Gly224=) c.348A>T (p.Gly116=) c.687A>T (p.Gly229=) | |
X | g.108578105C>A | CA413923710 | COL4A5 | c.673C>A (p.Pro225Thr) c.349C>A (p.Pro117Thr) c.688C>A (p.Pro230Thr) | |
X | g.108578105C>G | CA413923723 | COL4A5 | c.673C>G (p.Pro225Ala) c.349C>G (p.Pro117Ala) c.688C>G (p.Pro230Ala) | |
X | g.108578105C>T | CA413923726 | COL4A5 | c.673C>T (p.Pro225Ser) c.349C>T (p.Pro117Ser) c.688C>T (p.Pro230Ser) | gnomAD v4 |
X | g.108578107del | CA913184895 | COL4A5 | c.675del (p.Gly227ValfsTer27) c.351del (p.Gly119ValfsTer27) c.690del (p.Gly232ValfsTer27) | |
X | g.108578106C>A | CA413923729 | COL4A5 | c.674C>A (p.Pro225His) c.350C>A (p.Pro117His) c.689C>A (p.Pro230His) | |
X | g.108578106C= | CA2450682227 | COL4A5 | c.674C= (p.Pro225=) c.350C= (p.Pro117=) c.689C= (p.Pro230=) | |
X | g.108578106C>G | CA413923731 | COL4A5 | c.674C>G (p.Pro225Arg) c.350C>G (p.Pro117Arg) c.689C>G (p.Pro230Arg) | |
X | g.108578106C>T | CA413923740 | COL4A5 | c.674C>T (p.Pro225Leu) c.350C>T (p.Pro117Leu) c.689C>T (p.Pro230Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108578107C>A | CA517991760 | COL4A5 | c.675C>A (p.Pro225=) c.351C>A (p.Pro117=) c.690C>A (p.Pro230=) | |
X | g.108578107C>G | CA517991761 | COL4A5 | c.675C>G (p.Pro225=) c.351C>G (p.Pro117=) c.690C>G (p.Pro230=) | |
X | g.108578107C>T | CA517991762 | COL4A5 | c.675C>T (p.Pro225=) c.351C>T (p.Pro117=) c.690C>T (p.Pro230=) | |
X | g.108578108A>C | CA413923751 | COL4A5 | c.676A>C (p.Lys226Gln) c.352A>C (p.Lys118Gln) c.691A>C (p.Lys231Gln) | |
X | g.108578108A>G | CA413923748 | COL4A5 | c.676A>G (p.Lys226Glu) c.352A>G (p.Lys118Glu) c.691A>G (p.Lys231Glu) | |
X | g.108578108A>T | CA413923744 | COL4A5 | c.676A>T (p.Lys226Ter) c.352A>T (p.Lys118Ter) c.691A>T (p.Lys231Ter) | |
X | g.108578109A= | CA2450682228 | COL4A5 | c.677A= (p.Lys226=) c.353A= (p.Lys118=) c.692A= (p.Lys231=) | |
X | g.108578109A>C | CA334180231 | COL4A5 | c.677A>C (p.Lys226Thr) c.353A>C (p.Lys118Thr) c.692A>C (p.Lys231Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108578109A>G | CA413923754 | COL4A5 | c.677A>G (p.Lys226Arg) c.353A>G (p.Lys118Arg) c.692A>G (p.Lys231Arg) | |
X | g.108578109A>T | CA413923760 | COL4A5 | c.677A>T (p.Lys226Ile) c.353A>T (p.Lys118Ile) c.692A>T (p.Lys231Ile) | |
X | g.108578110A>C | CA413923761 | COL4A5 | c.678A>C (p.Lys226Asn) c.354A>C (p.Lys118Asn) c.693A>C (p.Lys231Asn) | |
X | g.108578110A>G | CA517991763 | COL4A5 | c.678A>G (p.Lys226=) c.354A>G (p.Lys118=) c.693A>G (p.Lys231=) | |
X | g.108578110A>T | CA413923766 | COL4A5 | c.678A>T (p.Lys226Asn) c.354A>T (p.Lys118Asn) c.693A>T (p.Lys231Asn) | |
X | g.108578111G>A | CA413923773 | COL4A5 | c.679G>A (p.Gly227Ser) c.355G>A (p.Gly119Ser) c.694G>A (p.Gly232Ser) | ClinVar dbSNP COSMIC |
X | g.108578111G>C | CA413923770 | COL4A5 | c.679G>C (p.Gly227Arg) c.355G>C (p.Gly119Arg) c.694G>C (p.Gly232Arg) | |
X | g.108578111G= | CA2450682229 | COL4A5 | c.679G= (p.Gly227=) c.355G= (p.Gly119=) c.694G= (p.Gly232=) | |
X | g.108578111G>T | CA413923768 | COL4A5 | c.679G>T (p.Gly227Cys) c.355G>T (p.Gly119Cys) c.694G>T (p.Gly232Cys) | COSMIC |
X | g.108578112G>A | CA413923781 | COL4A5 | c.680G>A (p.Gly227Asp) c.356G>A (p.Gly119Asp) c.695G>A (p.Gly232Asp) | |
X | g.108578112G>C | CA413923795 | COL4A5 | c.680G>C (p.Gly227Ala) c.356G>C (p.Gly119Ala) c.695G>C (p.Gly232Ala) | |
X | g.108578112G= | CA2450682230 | COL4A5 | c.680G= (p.Gly227=) c.356G= (p.Gly119=) c.695G= (p.Gly232=) | |
X | g.108578112G>T | CA413923815 | COL4A5 | c.680G>T (p.Gly227Val) c.356G>T (p.Gly119Val) c.695G>T (p.Gly232Val) | |
X | g.108578113_108578114del | CA2580100184 | COL4A5 | c.681_682del (p.Glu228LysfsTer3) c.357_358del (p.Glu120LysfsTer3) c.696_697del (p.Glu233LysfsTer3) | ClinVar |
X | g.108578113T>A | CA517991764 | COL4A5 | c.681T>A (p.Gly227=) c.357T>A (p.Gly119=) c.696T>A (p.Gly232=) | COSMIC COSMIC |
X | g.108578113T>C | CA517991765 | COL4A5 | c.681T>C (p.Gly227=) c.357T>C (p.Gly119=) c.696T>C (p.Gly232=) | |
X | g.108578113T>G | CA517991766 | COL4A5 | c.681T>G (p.Gly227=) c.357T>G (p.Gly119=) c.696T>G (p.Gly232=) | |
X | g.108578114G>A | CA10488539 | COL4A5 | c.682G>A (p.Glu228Lys) c.358G>A (p.Glu120Lys) c.697G>A (p.Glu233Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578114G>C | CA413923825 | COL4A5 | c.682G>C (p.Glu228Gln) c.358G>C (p.Glu120Gln) c.697G>C (p.Glu233Gln) | |
X | g.108578114G= | CA2450682231 | COL4A5 | c.682G= (p.Glu228=) c.358G= (p.Glu120=) c.697G= (p.Glu233=) | |
X | g.108578114G>T | CA261047 | COL4A5 | c.682G>T (p.Glu228Ter) c.358G>T (p.Glu120Ter) c.697G>T (p.Glu233Ter) | dbSNP |
X | g.108578114_108578115delinsGA | CA2450682232 | COL4A5 | c.682_683delinsGA (p.Glu228=) c.358_359delinsGA (p.Glu120=) c.697_698delinsGA (p.Glu233=) | |
X | g.108578115A>C | CA413923848 | COL4A5 | c.683A>C (p.Glu228Ala) c.359A>C (p.Glu120Ala) c.698A>C (p.Glu233Ala) | |
X | g.108578115A>G | CA413923854 | COL4A5 | c.683A>G (p.Glu228Gly) c.359A>G (p.Glu120Gly) c.698A>G (p.Glu233Gly) | gnomAD v4 |
X | g.108578115A>T | CA413923851 | COL4A5 | c.683A>T (p.Glu228Val) c.359A>T (p.Glu120Val) c.698A>T (p.Glu233Val) | |
X | g.108578119del | CA658799835 | COL4A5 | c.687del (p.Gly230ValfsTer24) c.363del (p.Gly122ValfsTer24) c.702del (p.Gly235ValfsTer24) | ClinVar dbSNP gnomAD v4 |
X | g.108578116A>C | CA413923875 | COL4A5 | c.684A>C (p.Glu228Asp) c.360A>C (p.Glu120Asp) c.699A>C (p.Glu233Asp) | |
X | g.108578116A>G | CA517991767 | COL4A5 | c.684A>G (p.Glu228=) c.360A>G (p.Glu120=) c.699A>G (p.Glu233=) | |
X | g.108578116A>T | CA413923879 | COL4A5 | c.684A>T (p.Glu228Asp) c.360A>T (p.Glu120Asp) c.699A>T (p.Glu233Asp) | |
X | g.108578117A>C | CA413923883 | COL4A5 | c.685A>C (p.Lys229Gln) c.361A>C (p.Lys121Gln) c.700A>C (p.Lys234Gln) | |
X | g.108578117A>G | CA413923890 | COL4A5 | c.685A>G (p.Lys229Glu) c.361A>G (p.Lys121Glu) c.700A>G (p.Lys234Glu) | |
X | g.108578117A>T | CA413923892 | COL4A5 | c.685A>T (p.Lys229Ter) c.361A>T (p.Lys121Ter) c.700A>T (p.Lys234Ter) | |
X | g.108578118A>C | CA413923901 | COL4A5 | c.686A>C (p.Lys229Thr) c.362A>C (p.Lys121Thr) c.701A>C (p.Lys234Thr) | |
X | g.108578118A>G | CA413923905 | COL4A5 | c.686A>G (p.Lys229Arg) c.362A>G (p.Lys121Arg) c.701A>G (p.Lys234Arg) | |
X | g.108578118A>T | CA413923913 | COL4A5 | c.686A>T (p.Lys229Ile) c.362A>T (p.Lys121Ile) c.701A>T (p.Lys234Ile) | |
X | g.108578119A>C | CA413923917 | COL4A5 | c.687A>C (p.Lys229Asn) c.363A>C (p.Lys121Asn) c.702A>C (p.Lys234Asn) | |
X | g.108578119A>G | CA517991768 | COL4A5 | c.687A>G (p.Lys229=) c.363A>G (p.Lys121=) c.702A>G (p.Lys234=) | |
X | g.108578119A>T | CA413923919 | COL4A5 | c.687A>T (p.Lys229Asn) c.363A>T (p.Lys121Asn) c.702A>T (p.Lys234Asn) | |
X | g.108578120G>A | CA258310 | COL4A5 | c.687+1G>A (n.687+1G>A) c.363+1G>A (n.363+1G>A) c.702+1G>A (n.702+1G>A) | ClinVar dbSNP |
X | g.108578120G>C | CA413923925 | COL4A5 | c.687+1G>C (n.687+1G>C) c.363+1G>C (n.363+1G>C) c.702+1G>C (n.702+1G>C) | ClinVar dbSNP |
X | g.108578120G= | CA2450682233 | COL4A5 | c.687+1G= (n.687+1G=) c.363+1G= (n.363+1G=) c.702+1G= (n.702+1G=) | |
X | g.108578120G>T | CA413923922 | COL4A5 | c.687+1G>T (n.687+1G>T) c.363+1G>T (n.363+1G>T) c.702+1G>T (n.702+1G>T) | |
X | g.108578121T>A | CA413923926 | COL4A5 | c.687+2T>A (n.687+2T>A) c.363+2T>A (n.363+2T>A) c.702+2T>A (n.702+2T>A) | |
X | g.108578121T>C | CA413923928 | COL4A5 | c.687+2T>C (n.687+2T>C) c.363+2T>C (n.363+2T>C) c.702+2T>C (n.702+2T>C) | |
X | g.108578121T>G | CA413923927 | COL4A5 | c.687+2T>G (n.687+2T>G) c.363+2T>G (n.363+2T>G) c.702+2T>G (n.702+2T>G) | |
X | g.108578121T= | CA2450682234 | COL4A5 | c.687+2T= (n.687+2T=) c.363+2T= (n.363+2T=) c.702+2T= (n.702+2T=) | |
X | g.108578122G>A | CA10488540 | COL4A5 | c.687+3G>A (n.687+3G>A) c.363+3G>A (n.363+3G>A) c.702+3G>A (n.702+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578122G= | CA2450682235 | COL4A5 | c.687+3G= (n.687+3G=) c.363+3G= (n.363+3G=) c.702+3G= (n.702+3G=) | |
X | g.108578122G>T | CA2580650485 | COL4A5 | c.687+3G>T (n.687+3G>T) c.363+3G>T (n.363+3G>T) c.702+3G>T (n.702+3G>T) | |
X | g.108578123A>T | CA2582342928 | COL4A5 | c.687+4A>T (n.687+4A>T) c.363+4A>T (n.363+4A>T) c.702+4A>T (n.702+4A>T) | ClinVar |
X | g.108578124G>A | CA645372689 | COL4A5 | c.687+5G>A (n.687+5G>A) c.363+5G>A (n.363+5G>A) c.702+5G>A (n.702+5G>A) | ClinVar dbSNP |
X | g.108578124G= | CA2450682236 | COL4A5 | c.687+5G= (n.687+5G=) c.363+5G= (n.363+5G=) c.702+5G= (n.702+5G=) | |
X | g.108578127A= | CA2450682237 | COL4A5 | c.687+8A= (n.687+8A=) c.363+8A= (n.363+8A=) c.702+8A= (n.702+8A=) | |
X | g.108578127A>C | CA2450682238 | COL4A5 | c.687+8A>C (n.687+8A>C) c.363+8A>C (n.363+8A>C) c.702+8A>C (n.702+8A>C) | dbSNP gnomAD v4 |
X | g.108578129G>A | CA2450682239 | COL4A5 | c.687+10G>A (n.687+10G>A) c.363+10G>A (n.363+10G>A) c.702+10G>A (n.702+10G>A) | ClinVar dbSNP |
X | g.108578129G= | CA2450682240 | COL4A5 | c.687+10G= (n.687+10G=) c.363+10G= (n.363+10G=) c.702+10G= (n.702+10G=) | |
X | g.108578130A= | CA2450682241 | COL4A5 | c.687+11A= (n.687+11A=) c.363+11A= (n.363+11A=) c.702+11A= (n.702+11A=) | |
X | g.108578130A>G | CA869820406 | COL4A5 | c.687+11A>G (n.687+11A>G) c.363+11A>G (n.363+11A>G) c.702+11A>G (n.702+11A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578132A= | CA2450682242 | COL4A5 | c.687+13A= (n.687+13A=) c.363+13A= (n.363+13A=) c.702+13A= (n.702+13A=) | |
X | g.108578132A>G | CA334180235 | COL4A5 | c.687+13A>G (n.687+13A>G) c.363+13A>G (n.363+13A>G) c.702+13A>G (n.702+13A>G) | ClinVar dbSNP gnomAD v4 |
X | g.108578136_108578137del | CA2694412169 | COL4A5 | c.687+17_687+18del (n.687+17_687+18del) c.363+17_363+18del (n.363+17_363+18del) c.702+17_702+18del (n.702+17_702+18del) | gnomAD v4 |
X | g.108578134A= | CA2450682243 | COL4A5 | c.687+15A= (n.687+15A=) c.363+15A= (n.363+15A=) c.702+15A= (n.702+15A=) | |
X | g.108578134A>G | CA643749928 | COL4A5 | c.687+15A>G (n.687+15A>G) c.363+15A>G (n.363+15A>G) c.702+15A>G (n.702+15A>G) | dbSNP gnomAD v2 |
X | g.108578135G>A | CA2694412174 | COL4A5 | c.687+16G>A (n.687+16G>A) c.363+16G>A (n.363+16G>A) c.702+16G>A (n.702+16G>A) | gnomAD v4 |
X | g.108578135G>C | CA10488541 | COL4A5 | c.687+16G>C (n.687+16G>C) c.363+16G>C (n.363+16G>C) c.702+16G>C (n.702+16G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578135G= | CA2450682244 | COL4A5 | c.687+16G= (n.687+16G=) c.363+16G= (n.363+16G=) c.702+16G= (n.702+16G=) | |
X | g.108578136A>G | CA2694412178 | COL4A5 | c.687+17A>G (n.687+17A>G) c.363+17A>G (n.363+17A>G) c.702+17A>G (n.702+17A>G) | gnomAD v4 |
X | g.108578136_108578137insAA | CA2450682245 | COL4A5 | c.687+17_687+18insAA (n.687+17_687+18insAA) c.363+17_363+18insAA (n.363+17_363+18insAA) c.702+17_702+18insAA (n.702+17_702+18insAA) | dbSNP |
X | g.108578138del | CA2694412179 | COL4A5 | c.687+19del (n.687+19del) c.363+19del (n.363+19del) c.702+19del (n.702+19del) | ClinVar gnomAD v4 |
X | g.108578138C>A | CA10488542 | COL4A5 | c.687+19C>A (n.687+19C>A) c.363+19C>A (n.363+19C>A) c.702+19C>A (n.702+19C>A) | dbSNP ExAC gnomAD v2 |
X | g.108578138C= | CA2450682246 | COL4A5 | c.687+19C= (n.687+19C=) c.363+19C= (n.363+19C=) c.702+19C= (n.702+19C=) | |
X | g.108578138C>T | CA2694412180 | COL4A5 | c.687+19C>T (n.687+19C>T) c.363+19C>T (n.363+19C>T) c.702+19C>T (n.702+19C>T) | gnomAD v4 |
X | g.108578140_108578147delinsGGTTATTC | CA2450682247 | COL4A5 | c.687+21_687+28delinsGGTTATTC (n.687+21_687+28delinsGGTTATTC) c.363+21_363+28delinsGGTTATTC (n.363+21_363+28delinsGGTTATTC) c.702+21_702+28delinsGGTTATTC (n.702+21_702+28delinsGGTTATTC) | |
X | g.108578141G>A | CA2694412181 | COL4A5 | c.687+22G>A (n.687+22G>A) c.363+22G>A (n.363+22G>A) c.702+22G>A (n.702+22G>A) | gnomAD v4 |
X | g.108578141_108578147del | CA2450682248 | COL4A5 | c.687+22_687+28del (n.687+22_687+28del) c.363+22_363+28del (n.363+22_363+28del) c.702+22_702+28del (n.702+22_702+28del) | dbSNP |
X | g.108578142T>C | CA2450682250 | COL4A5 | c.687+23T>C (n.687+23T>C) c.363+23T>C (n.363+23T>C) c.702+23T>C (n.702+23T>C) | dbSNP |
X | g.108578142T= | CA2450682249 | COL4A5 | c.687+23T= (n.687+23T=) c.363+23T= (n.363+23T=) c.702+23T= (n.702+23T=) | |
X | g.108578146T>C | CA2694412182 | COL4A5 | c.687+27T>C (n.687+27T>C) c.363+27T>C (n.363+27T>C) c.702+27T>C (n.702+27T>C) | gnomAD v4 |
X | g.108578148A>T | CA2822894574 | COL4A5 | c.687+29A>T (n.687+29A>T) c.363+29A>T (n.363+29A>T) c.702+29A>T (n.702+29A>T) | |
X | g.108578149G>A | CA2694412185 | COL4A5 | c.687+30G>A (n.687+30G>A) c.363+30G>A (n.363+30G>A) c.702+30G>A (n.702+30G>A) | gnomAD v4 |
X | g.108578149G= | CA2450682251 | COL4A5 | c.687+30G= (n.687+30G=) c.363+30G= (n.363+30G=) c.702+30G= (n.702+30G=) | |
X | g.108578149G>T | CA10488543 | COL4A5 | c.687+30G>T (n.687+30G>T) c.363+30G>T (n.363+30G>T) c.702+30G>T (n.702+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578150C= | CA2450682252 | COL4A5 | c.687+31C= (n.687+31C=) c.363+31C= (n.363+31C=) c.702+31C= (n.702+31C=) | |
X | g.108578150C>G | CA2450682253 | COL4A5 | c.687+31C>G (n.687+31C>G) c.363+31C>G (n.363+31C>G) c.702+31C>G (n.702+31C>G) | dbSNP |
X | g.108578150C>T | CA1136179042 | COL4A5 | c.687+31C>T (n.687+31C>T) c.363+31C>T (n.363+31C>T) c.702+31C>T (n.702+31C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578151C= | CA2450682254 | COL4A5 | c.687+32C= (n.687+32C=) c.363+32C= (n.363+32C=) c.702+32C= (n.702+32C=) | |
X | g.108578151C>G | CA2450682255 | COL4A5 | c.687+32C>G (n.687+32C>G) c.363+32C>G (n.363+32C>G) c.702+32C>G (n.702+32C>G) | dbSNP |
X | g.108578152C>A | CA2694412186 | COL4A5 | c.687+33C>A (n.687+33C>A) c.363+33C>A (n.363+33C>A) c.702+33C>A (n.702+33C>A) | gnomAD v4 |
X | g.108578153T= | CA2450682256 | COL4A5 | c.687+34T= (n.687+34T=) c.363+34T= (n.363+34T=) c.702+34T= (n.702+34T=) | |
X | g.108578153_108578154insGAATAAC | CA2450682257 | COL4A5 | c.687+34_687+35insGAATAAC (n.687+34_687+35insGAATAAC) c.363+34_363+35insGAATAAC (n.363+34_363+35insGAATAAC) c.702+34_702+35insGAATAAC (n.702+34_702+35insGAATAAC) | dbSNP |
X | g.108578154C>A | CA2568588791 | COL4A5 | c.687+35C>A (n.687+35C>A) c.363+35C>A (n.363+35C>A) c.702+35C>A (n.702+35C>A) | |
X | g.108578154C= | CA2450682258 | COL4A5 | c.687+35C= (n.687+35C=) c.363+35C= (n.363+35C=) c.702+35C= (n.702+35C=) | |
X | g.108578154C>T | CA643749931 | COL4A5 | c.687+35C>T (n.687+35C>T) c.363+35C>T (n.363+35C>T) c.702+35C>T (n.702+35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578156G>T | CA2694412187 | COL4A5 | c.687+37G>T (n.687+37G>T) c.363+37G>T (n.363+37G>T) c.702+37G>T (n.702+37G>T) | gnomAD v4 |
X | g.108578157_108578159delinsCTT | CA2450682259 | COL4A5 | c.687+38_687+40delinsCTT (n.687+38_687+40delinsCTT) c.363+38_363+40delinsCTT (n.363+38_363+40delinsCTT) c.702+38_702+40delinsCTT (n.702+38_702+40delinsCTT) | |
X | g.108578158T>C | CA643749932 | COL4A5 | c.687+39T>C (n.687+39T>C) c.363+39T>C (n.363+39T>C) c.702+39T>C (n.702+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578158T= | CA2450682261 | COL4A5 | c.687+39T= (n.687+39T=) c.363+39T= (n.363+39T=) c.702+39T= (n.702+39T=) | |
X | g.108578159_108578160del | CA2450682260 | COL4A5 | c.687+40_687+41del (n.687+40_687+41del) c.363+40_363+41del (n.363+40_363+41del) c.702+40_702+41del (n.702+40_702+41del) | dbSNP |
X | g.108578159T>C | CA2579675939 | COL4A5 | c.687+40T>C (n.687+40T>C) c.363+40T>C (n.363+40T>C) c.702+40T>C (n.702+40T>C) | |
X | g.108578159T>G | CA334180239 | COL4A5 | c.687+40T>G (n.687+40T>G) c.363+40T>G (n.363+40T>G) c.702+40T>G (n.702+40T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578159T= | CA2450682262 | COL4A5 | c.687+40T= (n.687+40T=) c.363+40T= (n.363+40T=) c.702+40T= (n.702+40T=) | |
X | g.108578160T>C | CA2694412189 | COL4A5 | c.687+41T>C (n.687+41T>C) c.363+41T>C (n.363+41T>C) c.702+41T>C (n.702+41T>C) | gnomAD v4 |
X | g.108578161C>G | CA2694412190 | COL4A5 | c.687+42C>G (n.687+42C>G) c.363+42C>G (n.363+42C>G) c.702+42C>G (n.702+42C>G) | gnomAD v4 |
X | g.108578162T>C | CA2450682264 | COL4A5 | c.687+43T>C (n.687+43T>C) c.363+43T>C (n.363+43T>C) c.702+43T>C (n.702+43T>C) | dbSNP gnomAD v4 |
X | g.108578162T= | CA2450682263 | COL4A5 | c.687+43T= (n.687+43T=) c.363+43T= (n.363+43T=) c.702+43T= (n.702+43T=) | |
X | g.108578164T>A | CA2694412191 | COL4A5 | c.687+45T>A (n.687+45T>A) c.363+45T>A (n.363+45T>A) c.702+45T>A (n.702+45T>A) | gnomAD v4 |
X | g.108578166T>C | CA2534022964 | COL4A5 | c.687+47T>C (n.687+47T>C) c.363+47T>C (n.363+47T>C) c.702+47T>C (n.702+47T>C) | |
X | g.108578167T>C | CA2450682266 | COL4A5 | c.687+48T>C (n.687+48T>C) c.363+48T>C (n.363+48T>C) c.702+48T>C (n.702+48T>C) | dbSNP gnomAD v4 |
X | g.108578167T= | CA2450682265 | COL4A5 | c.687+48T= (n.687+48T=) c.363+48T= (n.363+48T=) c.702+48T= (n.702+48T=) | |
X | g.108578168T>A | CA2579675940 | COL4A5 | c.687+49T>A (n.687+49T>A) c.363+49T>A (n.363+49T>A) c.702+49T>A (n.702+49T>A) | |
X | g.108578168T>G | CA10488544 | COL4A5 | c.687+49T>G (n.687+49T>G) c.363+49T>G (n.363+49T>G) c.702+49T>G (n.702+49T>G) | dbSNP ExAC gnomAD v2 |
X | g.108578168T= | CA2450682267 | COL4A5 | c.687+49T= (n.687+49T=) c.363+49T= (n.363+49T=) c.702+49T= (n.702+49T=) | |
X | g.108578169G>A | CA10488545 | COL4A5 | c.687+50G>A (n.687+50G>A) c.363+50G>A (n.363+50G>A) c.702+50G>A (n.702+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578169G= | CA2450682268 | COL4A5 | c.687+50G= (n.687+50G=) c.363+50G= (n.363+50G=) c.702+50G= (n.702+50G=) | |
X | g.108578169G>T | CA2450682269 | COL4A5 | c.687+50G>T (n.687+50G>T) c.363+50G>T (n.363+50G>T) c.702+50G>T (n.702+50G>T) | dbSNP |
X | g.108578171A>G | CA2694412192 | COL4A5 | c.687+52A>G (n.687+52A>G) c.363+52A>G (n.363+52A>G) c.702+52A>G (n.702+52A>G) | gnomAD v4 |
X | g.108578172G>T | CA2599727974 | COL4A5 | c.687+53G>T (n.687+53G>T) c.363+53G>T (n.363+53G>T) c.702+53G>T (n.702+53G>T) | gnomAD v3 gnomAD v4 |
X | g.108578174C>A | CA2694412193 | COL4A5 | c.687+55C>A (n.687+55C>A) c.363+55C>A (n.363+55C>A) c.702+55C>A (n.702+55C>A) | gnomAD v4 |
X | g.108578176T>A | CA2822894576 | COL4A5 | c.687+57T>A (n.687+57T>A) c.363+57T>A (n.363+57T>A) c.702+57T>A (n.702+57T>A) | |
X | g.108578176T>C | CA2694412194 | COL4A5 | c.687+57T>C (n.687+57T>C) c.363+57T>C (n.363+57T>C) c.702+57T>C (n.702+57T>C) | gnomAD v4 |
X | g.108578178T>A | CA2579675941 | COL4A5 | c.687+59T>A (n.687+59T>A) c.363+59T>A (n.363+59T>A) c.702+59T>A (n.702+59T>A) | |
X | g.108578179G>C | CA2694412195 | COL4A5 | c.687+60G>C (n.687+60G>C) c.363+60G>C (n.363+60G>C) c.702+60G>C (n.702+60G>C) | gnomAD v4 |
X | g.108578184_108578187del | CA2694412196 | COL4A5 | c.687+65_687+68del (n.687+65_687+68del) c.363+65_363+68del (n.363+65_363+68del) c.702+65_702+68del (n.702+65_702+68del) | gnomAD v4 |
X | g.108578183T>C | CA869820407 | COL4A5 | c.687+64T>C (n.687+64T>C) c.363+64T>C (n.363+64T>C) c.702+64T>C (n.702+64T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578183T= | CA2450682270 | COL4A5 | c.687+64T= (n.687+64T=) c.363+64T= (n.363+64T=) c.702+64T= (n.702+64T=) |