Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108580551_108580552insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG | CA2822895011 | COL4A5 | c.799_800insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG c.475_476insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG c.814_815insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG | |
X | g.108580504T>A | CA2822895023 | COL4A5 | c.781-29T>A (n.781-29T>A) c.457-29T>A (n.457-29T>A) c.796-29T>A (n.796-29T>A) | |
X | g.108580504T>C | CA2450683004 | COL4A5 | c.781-29T>C (n.781-29T>C) c.457-29T>C (n.457-29T>C) c.796-29T>C (n.796-29T>C) | dbSNP gnomAD v4 |
X | g.108580504T>G | CA2579675969 | COL4A5 | c.781-29T>G (n.781-29T>G) c.457-29T>G (n.457-29T>G) c.796-29T>G (n.796-29T>G) | gnomAD v4 |
X | g.108580504T= | CA2450683003 | COL4A5 | c.781-29T= (n.781-29T=) c.457-29T= (n.457-29T=) c.796-29T= (n.796-29T=) | |
X | g.108580505T>A | CA2694412553 | COL4A5 | c.781-28T>A (n.781-28T>A) c.457-28T>A (n.457-28T>A) c.796-28T>A (n.796-28T>A) | gnomAD v4 |
X | g.108580505T>C | CA2694412555 | COL4A5 | c.781-28T>C (n.781-28T>C) c.457-28T>C (n.457-28T>C) c.796-28T>C (n.796-28T>C) | gnomAD v4 |
X | g.108580506G>A | CA2694412557 | COL4A5 | c.781-27G>A (n.781-27G>A) c.457-27G>A (n.457-27G>A) c.796-27G>A (n.796-27G>A) | gnomAD v4 |
X | g.108580507A>T | CA2694412559 | COL4A5 | c.781-26A>T (n.781-26A>T) c.457-26A>T (n.457-26A>T) c.796-26A>T (n.796-26A>T) | gnomAD v4 |
X | g.108580508T>C | CA643750284 | COL4A5 | c.781-25T>C (n.781-25T>C) c.457-25T>C (n.457-25T>C) c.796-25T>C (n.796-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108580508T= | CA2450683005 | COL4A5 | c.781-25T= (n.781-25T=) c.457-25T= (n.457-25T=) c.796-25T= (n.796-25T=) | |
X | g.108580511C>A | CA2694412561 | COL4A5 | c.781-22C>A (n.781-22C>A) c.457-22C>A (n.457-22C>A) c.796-22C>A (n.796-22C>A) | gnomAD v4 |
X | g.108580512C>A | CA2694412562 | COL4A5 | c.781-21C>A (n.781-21C>A) c.457-21C>A (n.457-21C>A) c.796-21C>A (n.796-21C>A) | gnomAD v4 |
X | g.108580513T>C | CA2694412564 | COL4A5 | c.781-20T>C (n.781-20T>C) c.457-20T>C (n.457-20T>C) c.796-20T>C (n.796-20T>C) | gnomAD v4 |
X | g.108580513T>G | CA10488570 | COL4A5 | c.781-20T>G (n.781-20T>G) c.457-20T>G (n.457-20T>G) c.796-20T>G (n.796-20T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580513T= | CA2450683006 | COL4A5 | c.781-20T= (n.781-20T=) c.457-20T= (n.457-20T=) c.796-20T= (n.796-20T=) | |
X | g.108580515del | CA2579675970 | COL4A5 | c.781-18del (n.781-18del) c.457-18del (n.457-18del) c.796-18del (n.796-18del) | gnomAD v4 |
X | g.108580515T>C | CA2694412565 | COL4A5 | c.781-18T>C (n.781-18T>C) c.457-18T>C (n.457-18T>C) c.796-18T>C (n.796-18T>C) | gnomAD v4 |
X | g.108580516C>A | CA2579675971 | COL4A5 | c.781-17C>A (n.781-17C>A) c.457-17C>A (n.457-17C>A) c.796-17C>A (n.796-17C>A) | gnomAD v4 |
X | g.108580516C>T | CA2697544683 | COL4A5 | c.781-17C>T (n.781-17C>T) c.457-17C>T (n.457-17C>T) c.796-17C>T (n.796-17C>T) | ClinVar |
X | g.108580517C>A | CA2694412566 | COL4A5 | c.781-16C>A (n.781-16C>A) c.457-16C>A (n.457-16C>A) c.796-16C>A (n.796-16C>A) | gnomAD v4 |
X | g.108580518C>T | CA2694412567 | COL4A5 | c.781-15C>T (n.781-15C>T) c.457-15C>T (n.457-15C>T) c.796-15C>T (n.796-15C>T) | gnomAD v4 |
X | g.108580519C>A | CA334180608 | COL4A5 | c.781-14C>A (n.781-14C>A) c.457-14C>A (n.457-14C>A) c.796-14C>A (n.796-14C>A) | ClinVar dbSNP |
X | g.108580519C= | CA2450683007 | COL4A5 | c.781-14C= (n.781-14C=) c.457-14C= (n.457-14C=) c.796-14C= (n.796-14C=) | |
X | g.108580522C>A | CA334180610 | COL4A5 | c.781-11C>A (n.781-11C>A) c.457-11C>A (n.457-11C>A) c.796-11C>A (n.796-11C>A) | dbSNP gnomAD v4 |
X | g.108580522C= | CA2450683008 | COL4A5 | c.781-11C= (n.781-11C=) c.457-11C= (n.457-11C=) c.796-11C= (n.796-11C=) | |
X | g.108580524A>T | CA2694412568 | COL4A5 | c.781-9A>T (n.781-9A>T) c.457-9A>T (n.457-9A>T) c.796-9A>T (n.796-9A>T) | gnomAD v4 |
X | g.108580525C>G | CA2580100188 | COL4A5 | c.781-8C>G (n.781-8C>G) c.457-8C>G (n.457-8C>G) c.796-8C>G (n.796-8C>G) | ClinVar |
X | g.108580526T>A | CA2695235190 | COL4A5 | c.781-7T>A (n.781-7T>A) c.457-7T>A (n.457-7T>A) c.796-7T>A (n.796-7T>A) | |
X | g.108580527G>A | CA2694412569 | COL4A5 | c.781-6G>A (n.781-6G>A) c.457-6G>A (n.457-6G>A) c.796-6G>A (n.796-6G>A) | ClinVar gnomAD v4 |
X | g.108580528C>A | CA2694412570 | COL4A5 | c.781-5C>A (n.781-5C>A) c.457-5C>A (n.457-5C>A) c.796-5C>A (n.796-5C>A) | gnomAD v4 |
X | g.108580529A= | CA2450683009 | COL4A5 | c.781-4A= (n.781-4A=) c.457-4A= (n.457-4A=) c.796-4A= (n.796-4A=) | |
X | g.108580529A>G | CA2697544684 | COL4A5 | c.781-4A>G (n.781-4A>G) c.457-4A>G (n.457-4A>G) c.796-4A>G (n.796-4A>G) | ClinVar |
X | g.108580529A>T | CA2450683010 | COL4A5 | c.781-4A>T (n.781-4A>T) c.457-4A>T (n.457-4A>T) c.796-4A>T (n.796-4A>T) | dbSNP |
X | g.108580530T>C | CA2694412571 | COL4A5 | c.781-3T>C (n.781-3T>C) c.457-3T>C (n.457-3T>C) c.796-3T>C (n.796-3T>C) | gnomAD v4 |
X | g.108580531A= | CA2450683012 | COL4A5 | c.781-2A= (n.781-2A=) c.457-2A= (n.457-2A=) c.796-2A= (n.796-2A=) | |
X | g.108580531A>C | CA413925466 | COL4A5 | c.781-2A>C (n.781-2A>C) c.457-2A>C (n.457-2A>C) c.796-2A>C (n.796-2A>C) | |
X | g.108580531A>G | CA413925486 | COL4A5 | c.781-2A>G (n.781-2A>G) c.457-2A>G (n.457-2A>G) c.796-2A>G (n.796-2A>G) | ClinVar dbSNP |
X | g.108580531A>T | CA413925471 | COL4A5 | c.781-2A>T (n.781-2A>T) c.457-2A>T (n.457-2A>T) c.796-2A>T (n.796-2A>T) | dbSNP gnomAD v4 |
X | g.108580531_108580532delinsAG | CA2450683013 | COL4A5 | c.781-2_781-1delinsAG (n.781-2_781-1delinsAG) c.457-2_457-1delinsAG (n.457-2_457-1delinsAG) c.796-2_796-1delinsAG (n.796-2_796-1delinsAG) | |
X | g.108580531_108580538delinsAGGGACTT | CA2450683011 | COL4A5 | c.781-2_786delinsAGGGACTT c.457-2_462delinsAGGGACTT c.796-2_801delinsAGGGACTT | |
X | g.108580532G>A | CA413925490 | COL4A5 | c.781-1G>A (n.781-1G>A) c.457-1G>A (n.457-1G>A) c.796-1G>A (n.796-1G>A) | ClinVar dbSNP |
X | g.108580532G>C | CA413925509 | COL4A5 | c.781-1G>C (n.781-1G>C) c.457-1G>C (n.457-1G>C) c.796-1G>C (n.796-1G>C) | |
X | g.108580532G= | CA2450683014 | COL4A5 | c.781-1G= (n.781-1G=) c.457-1G= (n.457-1G=) c.796-1G= (n.796-1G=) | |
X | g.108580532G>T | CA413925514 | COL4A5 | c.781-1G>T (n.781-1G>T) c.457-1G>T (n.457-1G>T) c.796-1G>T (n.796-1G>T) | |
X | g.108580534del | CA334180613 | COL4A5 | c.782del c.458del c.797del | dbSNP |
X | g.108580532_108580538del | CA258322 | COL4A5 | c.781-1_786del c.457-1_462del c.796-1_801del | dbSNP |
X | g.108580533G>A | CA413925526 | COL4A5 | c.781G>A (p.Gly261Arg) c.457G>A (p.Gly153Arg) c.796G>A (p.Gly266Arg) | |
X | g.108580533G>C | CA413925517 | COL4A5 | c.781G>C (p.Gly261Arg) c.457G>C (p.Gly153Arg) c.796G>C (p.Gly266Arg) | dbSNP |
X | g.108580533G= | CA2450683015 | COL4A5 | c.781G= (p.Gly261=) c.457G= (p.Gly153=) c.796G= (p.Gly266=) | |
X | g.108580533G>T | CA413925521 | COL4A5 | c.781G>T (p.Gly261Ter) c.457G>T (p.Gly153Ter) c.796G>T (p.Gly266Ter) | |
X | g.108580534G>A | CA413925528 | COL4A5 | c.782G>A (p.Gly261Glu) c.458G>A (p.Gly153Glu) c.797G>A (p.Gly266Glu) | ClinVar dbSNP |
X | g.108580534G>C | CA413925530 | COL4A5 | c.782G>C (p.Gly261Ala) c.458G>C (p.Gly153Ala) c.797G>C (p.Gly266Ala) | |
X | g.108580534G>T | CA413925534 | COL4A5 | c.782G>T (p.Gly261Val) c.458G>T (p.Gly153Val) c.797G>T (p.Gly266Val) | |
X | g.108580535A>C | CA517991826 | COL4A5 | c.783A>C (p.Gly261=) c.459A>C (p.Gly153=) c.798A>C (p.Gly266=) | |
X | g.108580535A>G | CA517991827 | COL4A5 | c.783A>G (p.Gly261=) c.459A>G (p.Gly153=) c.798A>G (p.Gly266=) | |
X | g.108580535A>T | CA517991828 | COL4A5 | c.783A>T (p.Gly261=) c.459A>T (p.Gly153=) c.798A>T (p.Gly266=) | |
X | g.108580536C>A | CA413925538 | COL4A5 | c.784C>A (p.Leu262Ile) c.460C>A (p.Leu154Ile) c.799C>A (p.Leu267Ile) | |
X | g.108580536C>G | CA413925549 | COL4A5 | c.784C>G (p.Leu262Val) c.460C>G (p.Leu154Val) c.799C>G (p.Leu267Val) | |
X | g.108580536C>T | CA413925554 | COL4A5 | c.784C>T (p.Leu262Phe) c.460C>T (p.Leu154Phe) c.799C>T (p.Leu267Phe) | |
X | g.108580537T>A | CA413925557 | COL4A5 | c.785T>A (p.Leu262His) c.461T>A (p.Leu154His) c.800T>A (p.Leu267His) | COSMIC COSMIC |
X | g.108580537T>C | CA413925558 | COL4A5 | c.785T>C (p.Leu262Pro) c.461T>C (p.Leu154Pro) c.800T>C (p.Leu267Pro) | |
X | g.108580537T>G | CA413925559 | COL4A5 | c.785T>G (p.Leu262Arg) c.461T>G (p.Leu154Arg) c.800T>G (p.Leu267Arg) | |
X | g.108580538T>A | CA517991829 | COL4A5 | c.786T>A (p.Leu262=) c.462T>A (p.Leu154=) c.801T>A (p.Leu267=) | |
X | g.108580538T>C | CA517991830 | COL4A5 | c.786T>C (p.Leu262=) c.462T>C (p.Leu154=) c.801T>C (p.Leu267=) | |
X | g.108580538T>G | CA517991831 | COL4A5 | c.786T>G (p.Leu262=) c.462T>G (p.Leu154=) c.801T>G (p.Leu267=) | |
X | g.108580538T= | CA2450683017 | COL4A5 | c.786T= (p.Leu262=) c.462T= (p.Leu154=) c.801T= (p.Leu267=) | |
X | g.108580538_108580539delinsTC | CA2450683016 | COL4A5 | c.786_787delinsTC (p.Leu262=) c.462_463delinsTC (p.Leu154=) c.801_802delinsTC (p.Leu267=) | |
X | g.108580538_108580539insA | CA334180615 | COL4A5 | c.786_787insA (p.Pro263ThrfsTer3) c.462_463insA (p.Pro155ThrfsTer3) c.801_802insA (p.Pro268ThrfsTer3) | dbSNP |
X | g.108580539C>A | CA413925566 | COL4A5 | c.787C>A (p.Pro263Thr) c.463C>A (p.Pro155Thr) c.802C>A (p.Pro268Thr) | |
X | g.108580539C>G | CA413925562 | COL4A5 | c.787C>G (p.Pro263Ala) c.463C>G (p.Pro155Ala) c.802C>G (p.Pro268Ala) | |
X | g.108580539C>T | CA413925565 | COL4A5 | c.787C>T (p.Pro263Ser) c.463C>T (p.Pro155Ser) c.802C>T (p.Pro268Ser) | gnomAD v3 gnomAD v4 |
X | g.108580540del | CA261050 | COL4A5 | c.788del (p.Pro263LeufsTer?) c.464del (p.Pro155LeufsTer?) c.803del (p.Pro268LeufsTer?) | dbSNP |
X | g.108580540C>A | CA413925568 | COL4A5 | c.788C>A (p.Pro263His) c.464C>A (p.Pro155His) c.803C>A (p.Pro268His) | |
X | g.108580540C>G | CA413925570 | COL4A5 | c.788C>G (p.Pro263Arg) c.464C>G (p.Pro155Arg) c.803C>G (p.Pro268Arg) | |
X | g.108580540C>T | CA413925574 | COL4A5 | c.788C>T (p.Pro263Leu) c.464C>T (p.Pro155Leu) c.803C>T (p.Pro268Leu) | |
X | g.108580541T>A | CA517991832 | COL4A5 | c.789T>A (p.Pro263=) c.465T>A (p.Pro155=) c.804T>A (p.Pro268=) | |
X | g.108580541T>C | CA517991833 | COL4A5 | c.789T>C (p.Pro263=) c.465T>C (p.Pro155=) c.804T>C (p.Pro268=) | |
X | g.108580541T>G | CA517991834 | COL4A5 | c.789T>G (p.Pro263=) c.465T>G (p.Pro155=) c.804T>G (p.Pro268=) | |
X | g.108580542G>A | CA413925582 | COL4A5 | c.790G>A (p.Gly264Ser) c.466G>A (p.Gly156Ser) c.805G>A (p.Gly269Ser) | |
X | g.108580542G>C | CA258323 | COL4A5 | c.790G>C (p.Gly264Arg) c.466G>C (p.Gly156Arg) c.805G>C (p.Gly269Arg) | dbSNP |
X | g.108580542G= | CA2450683018 | COL4A5 | c.790G= (p.Gly264=) c.466G= (p.Gly156=) c.805G= (p.Gly269=) | |
X | g.108580542G>T | CA413925597 | COL4A5 | c.790G>T (p.Gly264Cys) c.466G>T (p.Gly156Cys) c.805G>T (p.Gly269Cys) | |
X | g.108580543G>A | CA258325 | COL4A5 | c.791G>A (p.Gly264Asp) c.467G>A (p.Gly156Asp) c.806G>A (p.Gly269Asp) | dbSNP |
X | g.108580543G>C | CA413925601 | COL4A5 | c.791G>C (p.Gly264Ala) c.467G>C (p.Gly156Ala) c.806G>C (p.Gly269Ala) | |
X | g.108580543G= | CA2450683019 | COL4A5 | c.791G= (p.Gly264=) c.467G= (p.Gly156=) c.806G= (p.Gly269=) | |
X | g.108580543G>T | CA413925603 | COL4A5 | c.791G>T (p.Gly264Val) c.467G>T (p.Gly156Val) c.806G>T (p.Gly269Val) | COSMIC COSMIC |
X | g.108580544T>A | CA517991835 | COL4A5 | c.792T>A (p.Gly264=) c.468T>A (p.Gly156=) c.807T>A (p.Gly269=) | |
X | g.108580544T>C | CA517991837 | COL4A5 | c.792T>C (p.Gly264=) c.468T>C (p.Gly156=) c.807T>C (p.Gly269=) | |
X | g.108580544T>G | CA517991836 | COL4A5 | c.792T>G (p.Gly264=) c.468T>G (p.Gly156=) c.807T>G (p.Gly269=) | |
X | g.108580545G>A | CA413925611 | COL4A5 | c.793G>A (p.Asp265Asn) c.469G>A (p.Asp157Asn) c.808G>A (p.Asp270Asn) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580545G>C | CA413925609 | COL4A5 | c.793G>C (p.Asp265His) c.469G>C (p.Asp157His) c.808G>C (p.Asp270His) | |
X | g.108580545G= | CA2450683020 | COL4A5 | c.793G= (p.Asp265=) c.469G= (p.Asp157=) c.808G= (p.Asp270=) | |
X | g.108580545G>T | CA413925607 | COL4A5 | c.793G>T (p.Asp265Tyr) c.469G>T (p.Asp157Tyr) c.808G>T (p.Asp270Tyr) | gnomAD v4 |
X | g.108580546A>C | CA413925613 | COL4A5 | c.794A>C (p.Asp265Ala) c.470A>C (p.Asp157Ala) c.809A>C (p.Asp270Ala) | |
X | g.108580546A>G | CA413925615 | COL4A5 | c.794A>G (p.Asp265Gly) c.470A>G (p.Asp157Gly) c.809A>G (p.Asp270Gly) | |
X | g.108580546A>T | CA413925620 | COL4A5 | c.794A>T (p.Asp265Val) c.470A>T (p.Asp157Val) c.809A>T (p.Asp270Val) | |
X | g.108580547C>A | CA413925623 | COL4A5 | c.795C>A (p.Asp265Glu) c.471C>A (p.Asp157Glu) c.810C>A (p.Asp270Glu) | |
X | g.108580547C>G | CA413925625 | COL4A5 | c.795C>G (p.Asp265Glu) c.471C>G (p.Asp157Glu) c.810C>G (p.Asp270Glu) | |
X | g.108580547C>T | CA517991838 | COL4A5 | c.795C>T (p.Asp265=) c.471C>T (p.Asp157=) c.810C>T (p.Asp270=) | |
X | g.108580548C>A | CA517991839 | COL4A5 | c.796C>A (p.Arg266=) c.472C>A (p.Arg158=) c.811C>A (p.Arg271=) | |
X | g.108580548C= | CA2450683021 | COL4A5 | c.796C= (p.Arg266=) c.472C= (p.Arg158=) c.811C= (p.Arg271=) | |
X | g.108580548C>G | CA10488571 | COL4A5 | c.796C>G (p.Arg266Gly) c.472C>G (p.Arg158Gly) c.811C>G (p.Arg271Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580548C>T | CA258328 | COL4A5 | c.796C>T (p.Arg266Ter) c.472C>T (p.Arg158Ter) c.811C>T (p.Arg271Ter) | ClinVar dbSNP |
X | g.108580549G>A | CA10488572 | COL4A5 | c.797G>A (p.Arg266Gln) c.473G>A (p.Arg158Gln) c.812G>A (p.Arg271Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580549G>C | CA413925640 | COL4A5 | c.797G>C (p.Arg266Pro) c.473G>C (p.Arg158Pro) c.812G>C (p.Arg271Pro) | |
X | g.108580549G= | CA2450683022 | COL4A5 | c.797G= (p.Arg266=) c.473G= (p.Arg158=) c.812G= (p.Arg271=) | |
X | g.108580549G>T | CA413925642 | COL4A5 | c.797G>T (p.Arg266Leu) c.473G>T (p.Arg158Leu) c.812G>T (p.Arg271Leu) | |
X | g.108580550A= | CA2450683023 | COL4A5 | c.798A= (p.Arg266=) c.474A= (p.Arg158=) c.813A= (p.Arg271=) | |
X | g.108580550A>C | CA517991840 | COL4A5 | c.798A>C (p.Arg266=) c.474A>C (p.Arg158=) c.813A>C (p.Arg271=) | |
X | g.108580550A>G | CA517991842 | COL4A5 | c.798A>G (p.Arg266=) c.474A>G (p.Arg158=) c.813A>G (p.Arg271=) | |
X | g.108580550A>T | CA517991841 | COL4A5 | c.798A>T (p.Arg266=) c.474A>T (p.Arg158=) c.813A>T (p.Arg271=) | |
X | g.108580551G>A | CA413925644 | COL4A5 | c.799G>A (p.Gly267Arg) c.475G>A (p.Gly159Arg) c.814G>A (p.Gly272Arg) | ClinVar dbSNP |
X | g.108580551G>C | CA413925646 | COL4A5 | c.799G>C (p.Gly267Arg) c.475G>C (p.Gly159Arg) c.814G>C (p.Gly272Arg) | ClinVar dbSNP |
X | g.108580551G= | CA2450683024 | COL4A5 | c.799G= (p.Gly267=) c.475G= (p.Gly159=) c.814G= (p.Gly272=) | |
X | g.108580551G>T | CA413925650 | COL4A5 | c.799G>T (p.Gly267Trp) c.475G>T (p.Gly159Trp) c.814G>T (p.Gly272Trp) | |
X | g.108580553dup | CA891843913 | COL4A5 | c.801dup (p.Pro268AlafsTer17) c.477dup (p.Pro160AlafsTer17) c.816dup (p.Pro273AlafsTer17) | |
X | g.108580552G>A | CA413925657 | COL4A5 | c.800G>A (p.Gly267Glu) c.476G>A (p.Gly159Glu) c.815G>A (p.Gly272Glu) | |
X | g.108580552G>C | CA413925665 | COL4A5 | c.800G>C (p.Gly267Ala) c.476G>C (p.Gly159Ala) c.815G>C (p.Gly272Ala) | |
X | g.108580552G= | CA2450683025 | COL4A5 | c.800G= (p.Gly267=) c.476G= (p.Gly159=) c.815G= (p.Gly272=) | |
X | g.108580552G>T | CA413925659 | COL4A5 | c.800G>T (p.Gly267Val) c.476G>T (p.Gly159Val) c.815G>T (p.Gly272Val) | ClinVar dbSNP |
X | g.108580553G>A | CA517991843 | COL4A5 | c.801G>A (p.Gly267=) c.477G>A (p.Gly159=) c.816G>A (p.Gly272=) | gnomAD v4 |
X | g.108580553G>C | CA517991844 | COL4A5 | c.801G>C (p.Gly267=) c.477G>C (p.Gly159=) c.816G>C (p.Gly272=) | |
X | g.108580553G>T | CA517991845 | COL4A5 | c.801G>T (p.Gly267=) c.477G>T (p.Gly159=) c.816G>T (p.Gly272=) | |
X | g.108580554_108580569del | CA2825002915 | COL4A5 | c.802_817del (p.Pro268GlyfsTer?) c.478_493del (p.Pro160GlyfsTer?) c.817_832del (p.Pro273GlyfsTer?) | ClinVar |
X | g.108580554C>A | CA413925669 | COL4A5 | c.802C>A (p.Pro268Thr) c.478C>A (p.Pro160Thr) c.817C>A (p.Pro273Thr) | |
X | g.108580554C>G | CA413925671 | COL4A5 | c.802C>G (p.Pro268Ala) c.478C>G (p.Pro160Ala) c.817C>G (p.Pro273Ala) | |
X | g.108580554C>T | CA413925672 | COL4A5 | c.802C>T (p.Pro268Ser) c.478C>T (p.Pro160Ser) c.817C>T (p.Pro273Ser) | |
X | g.108580555C>A | CA413925673 | COL4A5 | c.803C>A (p.Pro268His) c.479C>A (p.Pro160His) c.818C>A (p.Pro273His) | |
X | g.108580555C>G | CA413925676 | COL4A5 | c.803C>G (p.Pro268Arg) c.479C>G (p.Pro160Arg) c.818C>G (p.Pro273Arg) | |
X | g.108580555C>T | CA413925682 | COL4A5 | c.803C>T (p.Pro268Leu) c.479C>T (p.Pro160Leu) c.818C>T (p.Pro273Leu) | |
X | g.108580556T>A | CA517991846 | COL4A5 | c.804T>A (p.Pro268=) c.480T>A (p.Pro160=) c.819T>A (p.Pro273=) | |
X | g.108580556T>C | CA517991847 | COL4A5 | c.804T>C (p.Pro268=) c.480T>C (p.Pro160=) c.819T>C (p.Pro273=) | |
X | g.108580556T>G | CA517991848 | COL4A5 | c.804T>G (p.Pro268=) c.480T>G (p.Pro160=) c.819T>G (p.Pro273=) | |
X | g.108580557C>A | CA413925689 | COL4A5 | c.805C>A (p.Pro269Thr) c.481C>A (p.Pro161Thr) c.820C>A (p.Pro274Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108580557C= | CA2450683026 | COL4A5 | c.805C= (p.Pro269=) c.481C= (p.Pro161=) c.820C= (p.Pro274=) | |
X | g.108580557C>G | CA413925693 | COL4A5 | c.805C>G (p.Pro269Ala) c.481C>G (p.Pro161Ala) c.820C>G (p.Pro274Ala) | gnomAD v4 |
X | g.108580557C>T | CA413925698 | COL4A5 | c.805C>T (p.Pro269Ser) c.481C>T (p.Pro161Ser) c.820C>T (p.Pro274Ser) | |
X | g.108580558C>A | CA413925710 | COL4A5 | c.806C>A (p.Pro269His) c.482C>A (p.Pro161His) c.821C>A (p.Pro274His) | |
X | g.108580558C>G | CA413925709 | COL4A5 | c.806C>G (p.Pro269Arg) c.482C>G (p.Pro161Arg) c.821C>G (p.Pro274Arg) | |
X | g.108580558C>T | CA413925705 | COL4A5 | c.806C>T (p.Pro269Leu) c.482C>T (p.Pro161Leu) c.821C>T (p.Pro274Leu) | |
X | g.108580559T>A | CA517991851 | COL4A5 | c.807T>A (p.Pro269=) c.483T>A (p.Pro161=) c.822T>A (p.Pro274=) | |
X | g.108580559T>C | CA517991850 | COL4A5 | c.807T>C (p.Pro269=) c.483T>C (p.Pro161=) c.822T>C (p.Pro274=) | |
X | g.108580559T>G | CA517991849 | COL4A5 | c.807T>G (p.Pro269=) c.483T>G (p.Pro161=) c.822T>G (p.Pro274=) | |
X | g.108580560G>A | CA413925713 | COL4A5 | c.808G>A (p.Gly270Arg) c.484G>A (p.Gly162Arg) c.823G>A (p.Gly275Arg) | ClinVar dbSNP |
X | g.108580560G>C | CA413925717 | COL4A5 | c.808G>C (p.Gly270Arg) c.484G>C (p.Gly162Arg) c.823G>C (p.Gly275Arg) | |
X | g.108580560G= | CA2450683027 | COL4A5 | c.808G= (p.Gly270=) c.484G= (p.Gly162=) c.823G= (p.Gly275=) | |
X | g.108580560G>T | CA413925714 | COL4A5 | c.808G>T (p.Gly270Ter) c.484G>T (p.Gly162Ter) c.823G>T (p.Gly275Ter) | |
X | g.108580561G>A | CA413925720 | COL4A5 | c.809G>A (p.Gly270Glu) c.485G>A (p.Gly162Glu) c.824G>A (p.Gly275Glu) | |
X | g.108580561G>C | CA413925724 | COL4A5 | c.809G>C (p.Gly270Ala) c.485G>C (p.Gly162Ala) c.824G>C (p.Gly275Ala) | |
X | g.108580561G>T | CA413925729 | COL4A5 | c.809G>T (p.Gly270Val) c.485G>T (p.Gly162Val) c.824G>T (p.Gly275Val) | |
X | g.108580562A>C | CA517991852 | COL4A5 | c.810A>C (p.Gly270=) c.486A>C (p.Gly162=) c.825A>C (p.Gly275=) | |
X | g.108580562A>G | CA517991853 | COL4A5 | c.810A>G (p.Gly270=) c.486A>G (p.Gly162=) c.825A>G (p.Gly275=) | |
X | g.108580562A>T | CA517991854 | COL4A5 | c.810A>T (p.Gly270=) c.486A>T (p.Gly162=) c.825A>T (p.Gly275=) | gnomAD v4 |
X | g.108580562_108580563delinsAC | CA2450683028 | COL4A5 | c.810_811delinsAC (p.Gly270=) c.486_487delinsAC (p.Gly162=) c.825_826delinsAC (p.Gly275=) | |
X | g.108580563C>A | CA413925736 | COL4A5 | c.811C>A (p.Pro271Thr) c.487C>A (p.Pro163Thr) c.826C>A (p.Pro276Thr) | |
X | g.108580563C>G | CA413925740 | COL4A5 | c.811C>G (p.Pro271Ala) c.487C>G (p.Pro163Ala) c.826C>G (p.Pro276Ala) | |
X | g.108580563C>T | CA413925745 | COL4A5 | c.811C>T (p.Pro271Ser) c.487C>T (p.Pro163Ser) c.826C>T (p.Pro276Ser) | gnomAD v4 |
X | g.108580564del | CA258331 | COL4A5 | c.812del (p.Pro271LeufsTer?) c.488del (p.Pro163LeufsTer?) c.827del (p.Pro276LeufsTer?) | dbSNP |
X | g.108580564C>A | CA413925750 | COL4A5 | c.812C>A (p.Pro271His) c.488C>A (p.Pro163His) c.827C>A (p.Pro276His) | gnomAD v4 |
X | g.108580564C>G | CA413925754 | COL4A5 | c.812C>G (p.Pro271Arg) c.488C>G (p.Pro163Arg) c.827C>G (p.Pro276Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108580564C>T | CA413925756 | COL4A5 | c.812C>T (p.Pro271Leu) c.488C>T (p.Pro163Leu) c.827C>T (p.Pro276Leu) | |
X | g.108580565T>A | CA517991855 | COL4A5 | c.813T>A (p.Pro271=) c.489T>A (p.Pro163=) c.828T>A (p.Pro276=) | |
X | g.108580565T>C | CA517991856 | COL4A5 | c.813T>C (p.Pro271=) c.489T>C (p.Pro163=) c.828T>C (p.Pro276=) | |
X | g.108580565T>G | CA517991857 | COL4A5 | c.813T>G (p.Pro271=) c.489T>G (p.Pro163=) c.828T>G (p.Pro276=) | |
X | g.108580566C>A | CA413925769 | COL4A5 | c.814C>A (p.Pro272Thr) c.490C>A (p.Pro164Thr) c.829C>A (p.Pro277Thr) | |
X | g.108580566C>G | CA413925773 | COL4A5 | c.814C>G (p.Pro272Ala) c.490C>G (p.Pro164Ala) c.829C>G (p.Pro277Ala) | |
X | g.108580566C>T | CA413925775 | COL4A5 | c.814C>T (p.Pro272Ser) c.490C>T (p.Pro164Ser) c.829C>T (p.Pro277Ser) | gnomAD v4 |
X | g.108580567C>A | CA413925788 | COL4A5 | c.815C>A (p.Pro272Gln) c.491C>A (p.Pro164Gln) c.830C>A (p.Pro277Gln) | |
X | g.108580567C>G | CA413925805 | COL4A5 | c.815C>G (p.Pro272Arg) c.491C>G (p.Pro164Arg) c.830C>G (p.Pro277Arg) | |
X | g.108580567C>T | CA413925802 | COL4A5 | c.815C>T (p.Pro272Leu) c.491C>T (p.Pro164Leu) c.830C>T (p.Pro277Leu) | |
X | g.108580568A>C | CA517991860 | COL4A5 | c.816A>C (p.Pro272=) c.492A>C (p.Pro164=) c.831A>C (p.Pro277=) | |
X | g.108580568A>G | CA517991859 | COL4A5 | c.816A>G (p.Pro272=) c.492A>G (p.Pro164=) c.831A>G (p.Pro277=) | ClinVar |
X | g.108580568A>T | CA517991858 | COL4A5 | c.816A>T (p.Pro272=) c.492A>T (p.Pro164=) c.831A>T (p.Pro277=) | |
X | g.108580569G>A | CA413925811 | COL4A5 | c.817G>A (p.Gly273Arg) c.493G>A (p.Gly165Arg) c.832G>A (p.Gly278Arg) | ClinVar |
X | g.108580569G>C | CA413925813 | COL4A5 | c.817G>C (p.Gly273Arg) c.493G>C (p.Gly165Arg) c.832G>C (p.Gly278Arg) | |
X | g.108580569G>T | CA413925816 | COL4A5 | c.817G>T (p.Gly273Trp) c.493G>T (p.Gly165Trp) c.832G>T (p.Gly278Trp) | |
X | g.108580570G>A | CA413925819 | COL4A5 | c.818G>A (p.Gly273Glu) c.494G>A (p.Gly165Glu) c.833G>A (p.Gly278Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108580570G>C | CA413925820 | COL4A5 | c.818G>C (p.Gly273Ala) c.494G>C (p.Gly165Ala) c.833G>C (p.Gly278Ala) | |
X | g.108580570G>T | CA413925825 | COL4A5 | c.818G>T (p.Gly273Val) c.494G>T (p.Gly165Val) c.833G>T (p.Gly278Val) | |
X | g.108580571G>A | CA334180624 | COL4A5 | c.819G>A (p.Gly273=) c.495G>A (p.Gly165=) c.834G>A (p.Gly278=) | dbSNP |
X | g.108580571G>C | CA517991861 | COL4A5 | c.819G>C (p.Gly273=) c.495G>C (p.Gly165=) c.834G>C (p.Gly278=) | |
X | g.108580571G= | CA2450683029 | COL4A5 | c.819G= (p.Gly273=) c.495G= (p.Gly165=) c.834G= (p.Gly278=) | |
X | g.108580571G>T | CA517991862 | COL4A5 | c.819G>T (p.Gly273=) c.495G>T (p.Gly165=) c.834G>T (p.Gly278=) | ClinVar |
X | g.108580572A>C | CA413925826 | COL4A5 | c.820A>C (p.Ile274Leu) c.496A>C (p.Ile166Leu) c.835A>C (p.Ile279Leu) | |
X | g.108580572A>G | CA413925828 | COL4A5 | c.820A>G (p.Ile274Val) c.496A>G (p.Ile166Val) c.835A>G (p.Ile279Val) | COSMIC COSMIC |
X | g.108580572A>T | CA413925831 | COL4A5 | c.820A>T (p.Ile274Leu) c.496A>T (p.Ile166Leu) c.835A>T (p.Ile279Leu) | |
X | g.108580573T>A | CA413925843 | COL4A5 | c.821T>A (p.Ile274Lys) c.497T>A (p.Ile166Lys) c.836T>A (p.Ile279Lys) | |
X | g.108580573T>C | CA413925836 | COL4A5 | c.821T>C (p.Ile274Thr) c.497T>C (p.Ile166Thr) c.836T>C (p.Ile279Thr) | |
X | g.108580573T>G | CA413925834 | COL4A5 | c.821T>G (p.Ile274Arg) c.497T>G (p.Ile166Arg) c.836T>G (p.Ile279Arg) | |
X | g.108580574A>C | CA517991863 | COL4A5 | c.822A>C (p.Ile274=) c.498A>C (p.Ile166=) c.837A>C (p.Ile279=) | |
X | g.108580574A>G | CA413925846 | COL4A5 | c.822A>G (p.Ile274Met) c.498A>G (p.Ile166Met) c.837A>G (p.Ile279Met) | |
X | g.108580574A>T | CA517991864 | COL4A5 | c.822A>T (p.Ile274=) c.498A>T (p.Ile166=) c.837A>T (p.Ile279=) | |
X | g.108580575C>A | CA413925849 | COL4A5 | c.823C>A (p.Arg275Ser) c.499C>A (p.Arg167Ser) c.838C>A (p.Arg280Ser) | |
X | g.108580575C= | CA2450683030 | COL4A5 | c.823C= (p.Arg275=) c.499C= (p.Arg167=) c.838C= (p.Arg280=) | |
X | g.108580575C>G | CA413925852 | COL4A5 | c.823C>G (p.Arg275Gly) c.499C>G (p.Arg167Gly) c.838C>G (p.Arg280Gly) | |
X | g.108580575C>T | CA10488573 | COL4A5 | c.823C>T (p.Arg275Cys) c.499C>T (p.Arg167Cys) c.838C>T (p.Arg280Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108580576G>A | CA10488574 | COL4A5 | c.824G>A (p.Arg275His) c.500G>A (p.Arg167His) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580576G>C | CA413925858 | COL4A5 | c.824G>C (p.Arg275Pro) c.500G>C (p.Arg167Pro) c.839G>C (p.Arg280Pro) | |
X | g.108580576G= | CA2450683031 | COL4A5 | c.824G= (p.Arg275=) c.500G= (p.Arg167=) c.839G= (p.Arg280=) | |
X | g.108580576G>T | CA413925860 | COL4A5 | c.824G>T (p.Arg275Leu) c.500G>T (p.Arg167Leu) c.839G>T (p.Arg280Leu) | gnomAD v4 |
X | g.108580577T>A | CA517991865 | COL4A5 | c.825T>A (p.Arg275=) c.501T>A (p.Arg167=) c.840T>A (p.Arg280=) | |
X | g.108580577T>C | CA517991866 | COL4A5 | c.825T>C (p.Arg275=) c.501T>C (p.Arg167=) c.840T>C (p.Arg280=) | |
X | g.108580577T>G | CA517991867 | COL4A5 | c.825T>G (p.Arg275=) c.501T>G (p.Arg167=) c.840T>G (p.Arg280=) | |
X | g.108580578G>A | CA413925864 | COL4A5 | c.826G>A (p.Gly276Ser) c.502G>A (p.Gly168Ser) c.841G>A (p.Gly281Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108580578G>C | CA413925865 | COL4A5 | c.826G>C (p.Gly276Arg) c.502G>C (p.Gly168Arg) c.841G>C (p.Gly281Arg) | |
X | g.108580578G= | CA2450683032 | COL4A5 | c.826G= (p.Gly276=) c.502G= (p.Gly168=) c.841G= (p.Gly281=) | |
X | g.108580578G>T | CA413925866 | COL4A5 | c.826G>T (p.Gly276Cys) c.502G>T (p.Gly168Cys) c.841G>T (p.Gly281Cys) | |
X | g.108580579del | CA2579675972 | COL4A5 | c.827del (p.Gly276ValfsTer?) c.503del (p.Gly168ValfsTer?) c.842del (p.Gly281ValfsTer?) | |
X | g.108580579G>A | CA413925867 | COL4A5 | c.827G>A (p.Gly276Asp) c.503G>A (p.Gly168Asp) c.842G>A (p.Gly281Asp) | |
X | g.108580579G>C | CA413925869 | COL4A5 | c.827G>C (p.Gly276Ala) c.503G>C (p.Gly168Ala) c.842G>C (p.Gly281Ala) | |
X | g.108580579G>T | CA413925870 | COL4A5 | c.827G>T (p.Gly276Val) c.503G>T (p.Gly168Val) c.842G>T (p.Gly281Val) | ClinVar |
X | g.108580580T>A | CA517991868 | COL4A5 | c.828T>A (p.Gly276=) c.504T>A (p.Gly168=) c.843T>A (p.Gly281=) | |
X | g.108580580T>C | CA517991869 | COL4A5 | c.828T>C (p.Gly276=) c.504T>C (p.Gly168=) c.843T>C (p.Gly281=) | |
X | g.108580580T>G | CA517991870 | COL4A5 | c.828T>G (p.Gly276=) c.504T>G (p.Gly168=) c.843T>G (p.Gly281=) | |
X | g.108580581C>A | CA413925877 | COL4A5 | c.829C>A (p.Pro277Thr) c.505C>A (p.Pro169Thr) c.844C>A (p.Pro282Thr) | |
X | g.108580581C= | CA2450683033 | COL4A5 | c.829C= (p.Pro277=) c.505C= (p.Pro169=) c.844C= (p.Pro282=) | |
X | g.108580581C>G | CA413925872 | COL4A5 | c.829C>G (p.Pro277Ala) c.505C>G (p.Pro169Ala) c.844C>G (p.Pro282Ala) | |
X | g.108580581C>T | CA10488575 | COL4A5 | c.829C>T (p.Pro277Ser) c.505C>T (p.Pro169Ser) c.844C>T (p.Pro282Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580582C>A | CA413925881 | COL4A5 | c.830C>A (p.Pro277His) c.506C>A (p.Pro169His) c.845C>A (p.Pro282His) | |
X | g.108580582C= | CA2450683034 | COL4A5 | c.830C= (p.Pro277=) c.506C= (p.Pro169=) c.845C= (p.Pro282=) | |
X | g.108580582C>G | CA413925885 | COL4A5 | c.830C>G (p.Pro277Arg) c.506C>G (p.Pro169Arg) c.845C>G (p.Pro282Arg) | |
X | g.108580582C>T | CA334180629 | COL4A5 | c.830C>T (p.Pro277Leu) c.506C>T (p.Pro169Leu) c.845C>T (p.Pro282Leu) | ClinVar dbSNP gnomAD v4 |
X | g.108580583T>A | CA517991873 | COL4A5 | c.831T>A (p.Pro277=) c.507T>A (p.Pro169=) c.846T>A (p.Pro282=) | |
X | g.108580583T>C | CA517991871 | COL4A5 | c.831T>C (p.Pro277=) c.507T>C (p.Pro169=) c.846T>C (p.Pro282=) | gnomAD v4 |
X | g.108580583T>G | CA517991872 | COL4A5 | c.831T>G (p.Pro277=) c.507T>G (p.Pro169=) c.846T>G (p.Pro282=) | |
X | g.108580584C>A | CA413925890 | COL4A5 | c.832C>A (p.Pro278Thr) c.508C>A (p.Pro170Thr) c.847C>A (p.Pro283Thr) | |
X | g.108580584C>G | CA413925891 | COL4A5 | c.832C>G (p.Pro278Ala) c.508C>G (p.Pro170Ala) c.847C>G (p.Pro283Ala) | |
X | g.108580584C>T | CA413925893 | COL4A5 | c.832C>T (p.Pro278Ser) c.508C>T (p.Pro170Ser) c.847C>T (p.Pro283Ser) | |
X | g.108580585C>A | CA413925895 | COL4A5 | c.833C>A (p.Pro278Gln) c.509C>A (p.Pro170Gln) c.848C>A (p.Pro283Gln) | |
X | g.108580585C= | CA2450683035 | COL4A5 | c.833C= (p.Pro278=) c.509C= (p.Pro170=) c.848C= (p.Pro283=) | |
X | g.108580585C>G | CA413925897 | COL4A5 | c.833C>G (p.Pro278Arg) c.509C>G (p.Pro170Arg) c.848C>G (p.Pro283Arg) | |
X | g.108580585C>T | CA10488576 | COL4A5 | c.833C>T (p.Pro278Leu) c.509C>T (p.Pro170Leu) c.848C>T (p.Pro283Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580585_108580586delinsCA | CA2450683036 | COL4A5 | c.833_834delinsCA (p.Pro278=) c.509_510delinsCA (p.Pro170=) c.848_849delinsCA (p.Pro283=) | |
X | g.108580586del | CA1139667752 | COL4A5 | c.834del (p.Gly279ValfsTer?) c.510del (p.Gly171ValfsTer?) c.849del (p.Gly284ValfsTer?) | ClinVar dbSNP |
X | g.108580586A>C | CA517991874 | COL4A5 | c.834A>C (p.Pro278=) c.510A>C (p.Pro170=) c.849A>C (p.Pro283=) | |
X | g.108580586A>G | CA517991875 | COL4A5 | c.834A>G (p.Pro278=) c.510A>G (p.Pro170=) c.849A>G (p.Pro283=) | |
X | g.108580586A>T | CA517991876 | COL4A5 | c.834A>T (p.Pro278=) c.510A>T (p.Pro170=) c.849A>T (p.Pro283=) | |
X | g.108580587G>A | CA258332 | COL4A5 | c.834+1G>A (n.834+1G>A) c.510+1G>A (n.510+1G>A) c.849+1G>A (n.849+1G>A) | ClinVar dbSNP |
X | g.108580587G>C | CA413925899 | COL4A5 | c.834+1G>C (n.834+1G>C) c.510+1G>C (n.510+1G>C) c.849+1G>C (n.849+1G>C) | ClinVar dbSNP |
X | g.108580587G= | CA2450683037 | COL4A5 | c.834+1G= (n.834+1G=) c.510+1G= (n.510+1G=) c.849+1G= (n.849+1G=) | |
X | g.108580587G>T | CA413925901 | COL4A5 | c.834+1G>T (n.834+1G>T) c.510+1G>T (n.510+1G>T) c.849+1G>T (n.849+1G>T) | ClinVar |
X | g.108580588T>A | CA413925909 | COL4A5 | c.834+2T>A (n.834+2T>A) c.510+2T>A (n.510+2T>A) c.849+2T>A (n.849+2T>A) | |
X | g.108580588T>C | CA413925911 | COL4A5 | c.834+2T>C (n.834+2T>C) c.510+2T>C (n.510+2T>C) c.849+2T>C (n.849+2T>C) | |
X | g.108580588T>G | CA413925906 | COL4A5 | c.834+2T>G (n.834+2T>G) c.510+2T>G (n.510+2T>G) c.849+2T>G (n.849+2T>G) | ClinVar dbSNP |
X | g.108580588T= | CA2450683038 | COL4A5 | c.834+2T= (n.834+2T=) c.510+2T= (n.510+2T=) c.849+2T= (n.849+2T=) | |
X | g.108580589A= | CA2450683039 | COL4A5 | c.834+3A= (n.834+3A=) c.510+3A= (n.510+3A=) c.849+3A= (n.849+3A=) | |
X | g.108580589A>G | CA869793884 | COL4A5 | c.834+3A>G (n.834+3A>G) c.510+3A>G (n.510+3A>G) c.849+3A>G (n.849+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580591G>A | CA891843914 | COL4A5 | c.834+5G>A (n.834+5G>A) c.510+5G>A (n.510+5G>A) c.849+5G>A (n.849+5G>A) | |
X | g.108580591G= | CA2450683040 | COL4A5 | c.834+5G= (n.834+5G=) c.510+5G= (n.510+5G=) c.849+5G= (n.849+5G=) | |
X | g.108580591G>T | CA258333 | COL4A5 | c.834+5G>T (n.834+5G>T) c.510+5G>T (n.510+5G>T) c.849+5G>T (n.849+5G>T) | dbSNP |
X | g.108580592T= | CA2450683041 | COL4A5 | c.834+6T= (n.834+6T=) c.510+6T= (n.510+6T=) c.849+6T= (n.849+6T=) | |
X | g.108580593dup | CA2450683042 | COL4A5 | c.834+7dup (n.834+7dup) c.510+7dup (n.510+7dup) c.849+7dup (n.849+7dup) | dbSNP |
X | g.108580594C>A | CA10488577 | COL4A5 | c.834+8C>A (n.834+8C>A) c.510+8C>A (n.510+8C>A) c.849+8C>A (n.849+8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580594C= | CA2450683043 | COL4A5 | c.834+8C= (n.834+8C=) c.510+8C= (n.510+8C=) c.849+8C= (n.849+8C=) | |
X | g.108580594C>G | CA2694412581 | COL4A5 | c.834+8C>G (n.834+8C>G) c.510+8C>G (n.510+8C>G) c.849+8C>G (n.849+8C>G) | gnomAD v4 |
X | g.108580595C>T | CA517991877 | COL4A5 | c.834+9C>T (n.834+9C>T) c.510+9C>T (n.510+9C>T) c.849+9C>T (n.849+9C>T) | COSMIC |
X | g.108580597A= | CA2450683044 | COL4A5 | c.834+11A= (n.834+11A=) c.510+11A= (n.510+11A=) c.849+11A= (n.849+11A=) | |
X | g.108580597A>G | CA10488578 | COL4A5 | c.834+11A>G (n.834+11A>G) c.510+11A>G (n.510+11A>G) c.849+11A>G (n.849+11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580599A= | CA2450683045 | COL4A5 | c.834+13A= (n.834+13A=) c.510+13A= (n.510+13A=) c.849+13A= (n.849+13A=) | |
X | g.108580599A>G | CA517991878 | COL4A5 | c.834+13A>G (n.834+13A>G) c.510+13A>G (n.510+13A>G) c.849+13A>G (n.849+13A>G) | ClinVar dbSNP gnomAD v4 |
X | g.108580600G>A | CA10488579 | COL4A5 | c.834+14G>A (n.834+14G>A) c.510+14G>A (n.510+14G>A) c.849+14G>A (n.849+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580600G= | CA2450683046 | COL4A5 | c.834+14G= (n.834+14G=) c.510+14G= (n.510+14G=) c.849+14G= (n.849+14G=) | |
X | g.108580602G>T | CA2694412591 | COL4A5 | c.834+16G>T (n.834+16G>T) c.510+16G>T (n.510+16G>T) c.849+16G>T (n.849+16G>T) | gnomAD v4 |
X | g.108580603C>A | CA2579675973 | COL4A5 | c.834+17C>A (n.834+17C>A) c.510+17C>A (n.510+17C>A) c.849+17C>A (n.849+17C>A) | |
X | g.108580604T>C | CA2694412593 | COL4A5 | c.834+18T>C (n.834+18T>C) c.510+18T>C (n.510+18T>C) c.849+18T>C (n.849+18T>C) | gnomAD v4 |
X | g.108580606del | CA2579675974 | COL4A5 | c.834+20del (n.834+20del) c.510+20del (n.510+20del) c.849+20del (n.849+20del) |