Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108580686C>A | CA413926039 | COL4A5 | c.839C>A (p.Pro280His) c.515C>A (p.Pro172His) c.854C>A (p.Pro285His) | gnomAD v4 |
X | g.108580686C>G | CA413926036 | COL4A5 | c.839C>G (p.Pro280Arg) c.515C>G (p.Pro172Arg) c.854C>G (p.Pro285Arg) | |
X | g.108580686C>T | CA413926037 | COL4A5 | c.839C>T (p.Pro280Leu) c.515C>T (p.Pro172Leu) c.854C>T (p.Pro285Leu) | |
X | g.108580687C>A | CA517991882 | COL4A5 | c.840C>A (p.Pro280=) c.516C>A (p.Pro172=) c.855C>A (p.Pro285=) | |
X | g.108580687C>G | CA517991883 | COL4A5 | c.840C>G (p.Pro280=) c.516C>G (p.Pro172=) c.855C>G (p.Pro285=) | |
X | g.108580687C>T | CA517991884 | COL4A5 | c.840C>T (p.Pro280=) c.516C>T (p.Pro172=) c.855C>T (p.Pro285=) | ClinVar |
X | g.108580688C>A | CA413926050 | COL4A5 | c.841C>A (p.Pro281Thr) c.517C>A (p.Pro173Thr) c.856C>A (p.Pro286Thr) | |
X | g.108580688C>G | CA413926059 | COL4A5 | c.841C>G (p.Pro281Ala) c.517C>G (p.Pro173Ala) c.856C>G (p.Pro286Ala) | |
X | g.108580688C>T | CA413926063 | COL4A5 | c.841C>T (p.Pro281Ser) c.517C>T (p.Pro173Ser) c.856C>T (p.Pro286Ser) | gnomAD v4 |
X | g.108580689C>A | CA413926072 | COL4A5 | c.842C>A (p.Pro281Gln) c.518C>A (p.Pro173Gln) c.857C>A (p.Pro286Gln) | |
X | g.108580689C>G | CA413926077 | COL4A5 | c.842C>G (p.Pro281Arg) c.518C>G (p.Pro173Arg) c.857C>G (p.Pro286Arg) | |
X | g.108580689C>T | CA413926081 | COL4A5 | c.842C>T (p.Pro281Leu) c.518C>T (p.Pro173Leu) c.857C>T (p.Pro286Leu) | |
X | g.108580690A>C | CA517991885 | COL4A5 | c.843A>C (p.Pro281=) c.519A>C (p.Pro173=) c.858A>C (p.Pro286=) | |
X | g.108580690A>G | CA517991886 | COL4A5 | c.843A>G (p.Pro281=) c.519A>G (p.Pro173=) c.858A>G (p.Pro286=) | |
X | g.108580690A>T | CA517991887 | COL4A5 | c.843A>T (p.Pro281=) c.519A>T (p.Pro173=) c.858A>T (p.Pro286=) | |
X | g.108580691G>A | CA413926101 | COL4A5 | c.844G>A (p.Gly282Ser) c.520G>A (p.Gly174Ser) c.859G>A (p.Gly287Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580691G>C | CA413926093 | COL4A5 | c.844G>C (p.Gly282Arg) c.520G>C (p.Gly174Arg) c.859G>C (p.Gly287Arg) | |
X | g.108580691G= | CA2450683078 | COL4A5 | c.844G= (p.Gly282=) c.520G= (p.Gly174=) c.859G= (p.Gly287=) | |
X | g.108580691G>T | CA413926083 | COL4A5 | c.844G>T (p.Gly282Cys) c.520G>T (p.Gly174Cys) c.859G>T (p.Gly287Cys) | |
X | g.108580692dup | CA2499226301 | COL4A5 | c.845dup (p.Gly283TrpfsTer2) c.521dup (p.Gly175TrpfsTer2) c.860dup (p.Gly288TrpfsTer2) | ClinVar dbSNP |
X | g.108580692G>A | CA334180653 | COL4A5 | c.845G>A (p.Gly282Asp) c.521G>A (p.Gly174Asp) c.860G>A (p.Gly287Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580692G>C | CA413926105 | COL4A5 | c.845G>C (p.Gly282Ala) c.521G>C (p.Gly174Ala) c.860G>C (p.Gly287Ala) | gnomAD v4 |
X | g.108580692G= | CA2450683079 | COL4A5 | c.845G= (p.Gly282=) c.521G= (p.Gly174=) c.860G= (p.Gly287=) | |
X | g.108580692G>T | CA413926106 | COL4A5 | c.845G>T (p.Gly282Val) c.521G>T (p.Gly174Val) c.860G>T (p.Gly287Val) | |
X | g.108580693T>A | CA517991888 | COL4A5 | c.846T>A (p.Gly282=) c.522T>A (p.Gly174=) c.861T>A (p.Gly287=) | |
X | g.108580693T>C | CA517991889 | COL4A5 | c.846T>C (p.Gly282=) c.522T>C (p.Gly174=) c.861T>C (p.Gly287=) | |
X | g.108580693T>G | CA517991890 | COL4A5 | c.846T>G (p.Gly282=) c.522T>G (p.Gly174=) c.861T>G (p.Gly287=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580693T= | CA2450683080 | COL4A5 | c.846T= (p.Gly282=) c.522T= (p.Gly174=) c.861T= (p.Gly287=) | |
X | g.108580694G>A | CA413926108 | COL4A5 | c.847G>A (p.Gly283Ser) c.523G>A (p.Gly175Ser) c.862G>A (p.Gly288Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108580694G>C | CA413926110 | COL4A5 | c.847G>C (p.Gly283Arg) c.523G>C (p.Gly175Arg) c.862G>C (p.Gly288Arg) | |
X | g.108580694G= | CA2450683081 | COL4A5 | c.847G= (p.Gly283=) c.523G= (p.Gly175=) c.862G= (p.Gly288=) | |
X | g.108580694G>T | CA413926111 | COL4A5 | c.847G>T (p.Gly283Cys) c.523G>T (p.Gly175Cys) c.862G>T (p.Gly288Cys) | |
X | g.108580695del | CA2573159076 | COL4A5 | c.848del (p.Gly283ValfsTer?) c.524del (p.Gly175ValfsTer?) c.863del (p.Gly288ValfsTer?) | ClinVar dbSNP |
X | g.108580695G>A | CA413926112 | COL4A5 | c.848G>A (p.Gly283Asp) c.524G>A (p.Gly175Asp) c.863G>A (p.Gly288Asp) | gnomAD v4 |
X | g.108580695G>C | CA413926116 | COL4A5 | c.848G>C (p.Gly283Ala) c.524G>C (p.Gly175Ala) c.863G>C (p.Gly288Ala) | |
X | g.108580695G= | CA2450683082 | COL4A5 | c.848G= (p.Gly283=) c.524G= (p.Gly175=) c.863G= (p.Gly288=) | |
X | g.108580695G>T | CA10488591 | COL4A5 | c.848G>T (p.Gly283Val) c.524G>T (p.Gly175Val) c.863G>T (p.Gly288Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580696T>A | CA517991891 | COL4A5 | c.849T>A (p.Gly283=) c.525T>A (p.Gly175=) c.864T>A (p.Gly288=) | |
X | g.108580696T>C | CA517991892 | COL4A5 | c.849T>C (p.Gly283=) c.525T>C (p.Gly175=) c.864T>C (p.Gly288=) | |
X | g.108580696T>G | CA517991893 | COL4A5 | c.849T>G (p.Gly283=) c.525T>G (p.Gly175=) c.864T>G (p.Gly288=) | gnomAD v4 |
X | g.108580697G>A | CA413926130 | COL4A5 | c.850G>A (p.Glu284Lys) c.526G>A (p.Glu176Lys) c.865G>A (p.Glu289Lys) | |
X | g.108580697G>C | CA413926133 | COL4A5 | c.850G>C (p.Glu284Gln) c.526G>C (p.Glu176Gln) c.865G>C (p.Glu289Gln) | |
X | g.108580697G>T | CA413926138 | COL4A5 | c.850G>T (p.Glu284Ter) c.526G>T (p.Glu176Ter) c.865G>T (p.Glu289Ter) | |
X | g.108580698A= | CA2450683083 | COL4A5 | c.851A= (p.Glu284=) c.527A= (p.Glu176=) c.866A= (p.Glu289=) | |
X | g.108580698A>C | CA413926141 | COL4A5 | c.851A>C (p.Glu284Ala) c.527A>C (p.Glu176Ala) c.866A>C (p.Glu289Ala) | |
X | g.108580698A>G | CA413926144 | COL4A5 | c.851A>G (p.Glu284Gly) c.527A>G (p.Glu176Gly) c.866A>G (p.Glu289Gly) | |
X | g.108580698A>T | CA413926148 | COL4A5 | c.851A>T (p.Glu284Val) c.527A>T (p.Glu176Val) c.866A>T (p.Glu289Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580699G>A | CA517991894 | COL4A5 | c.852G>A (p.Glu284=) c.528G>A (p.Glu176=) c.867G>A (p.Glu289=) | |
X | g.108580699G>C | CA413926157 | COL4A5 | c.852G>C (p.Glu284Asp) c.528G>C (p.Glu176Asp) c.867G>C (p.Glu289Asp) | |
X | g.108580699G>T | CA413926161 | COL4A5 | c.852G>T (p.Glu284Asp) c.528G>T (p.Glu176Asp) c.867G>T (p.Glu289Asp) | |
X | g.108580700A>C | CA413926163 | COL4A5 | c.853A>C (p.Lys285Gln) c.529A>C (p.Lys177Gln) c.868A>C (p.Lys290Gln) | |
X | g.108580700A>G | CA413926179 | COL4A5 | c.853A>G (p.Lys285Glu) c.529A>G (p.Lys177Glu) c.868A>G (p.Lys290Glu) | |
X | g.108580700A>T | CA413926186 | COL4A5 | c.853A>T (p.Lys285Ter) c.529A>T (p.Lys177Ter) c.868A>T (p.Lys290Ter) | |
X | g.108580701A>C | CA413926190 | COL4A5 | c.854A>C (p.Lys285Thr) c.530A>C (p.Lys177Thr) c.869A>C (p.Lys290Thr) | |
X | g.108580701A>G | CA413926211 | COL4A5 | c.854A>G (p.Lys285Arg) c.530A>G (p.Lys177Arg) c.869A>G (p.Lys290Arg) | |
X | g.108580701A>T | CA413926204 | COL4A5 | c.854A>T (p.Lys285Ile) c.530A>T (p.Lys177Ile) c.869A>T (p.Lys290Ile) | |
X | g.108580702A>C | CA413926216 | COL4A5 | c.855A>C (p.Lys285Asn) c.531A>C (p.Lys177Asn) c.870A>C (p.Lys290Asn) | |
X | g.108580702A>G | CA517991895 | COL4A5 | c.855A>G (p.Lys285=) c.531A>G (p.Lys177=) c.870A>G (p.Lys290=) | gnomAD v4 |
X | g.108580702A>T | CA413926220 | COL4A5 | c.855A>T (p.Lys285Asn) c.531A>T (p.Lys177Asn) c.870A>T (p.Lys290Asn) | |
X | g.108580703G>A | CA413926221 | COL4A5 | c.856G>A (p.Gly286Ser) c.532G>A (p.Gly178Ser) c.871G>A (p.Gly291Ser) | |
X | g.108580703G>C | CA413926222 | COL4A5 | c.856G>C (p.Gly286Arg) c.532G>C (p.Gly178Arg) c.871G>C (p.Gly291Arg) | |
X | g.108580703G= | CA2450683084 | COL4A5 | c.856G= (p.Gly286=) c.532G= (p.Gly178=) c.871G= (p.Gly291=) | |
X | g.108580703G>T | CA10488592 | COL4A5 | c.856G>T (p.Gly286Cys) c.532G>T (p.Gly178Cys) c.871G>T (p.Gly291Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108580704G>A | CA413926223 | COL4A5 | c.857G>A (p.Gly286Asp) c.533G>A (p.Gly178Asp) c.872G>A (p.Gly291Asp) | |
X | g.108580704G>C | CA413926228 | COL4A5 | c.857G>C (p.Gly286Ala) c.533G>C (p.Gly178Ala) c.872G>C (p.Gly291Ala) | ClinVar |
X | g.108580704G>T | CA413926231 | COL4A5 | c.857G>T (p.Gly286Val) c.533G>T (p.Gly178Val) c.872G>T (p.Gly291Val) | |
X | g.108580705_108580706del | CA2573159077 | COL4A5 | c.858_859del (p.Lys288GlyfsTer2) c.534_535del (p.Lys180GlyfsTer2) c.873_874del (p.Lys293GlyfsTer2) | ClinVar dbSNP |
X | g.108580705T>A | CA517991896 | COL4A5 | c.858T>A (p.Gly286=) c.534T>A (p.Gly178=) c.873T>A (p.Gly291=) | |
X | g.108580705T>C | CA10488593 | COL4A5 | c.858T>C (p.Gly286=) c.534T>C (p.Gly178=) c.873T>C (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580705T>G | CA517991897 | COL4A5 | c.858T>G (p.Gly286=) c.534T>G (p.Gly178=) c.873T>G (p.Gly291=) | ClinVar dbSNP |
X | g.108580705T= | CA2450683085 | COL4A5 | c.858T= (p.Gly286=) c.534T= (p.Gly178=) c.873T= (p.Gly291=) | |
X | g.108580706G>A | CA413926238 | COL4A5 | c.859G>A (p.Glu287Lys) c.535G>A (p.Glu179Lys) c.874G>A (p.Glu292Lys) | gnomAD v4 |
X | g.108580706G>C | CA413926239 | COL4A5 | c.859G>C (p.Glu287Gln) c.535G>C (p.Glu179Gln) c.874G>C (p.Glu292Gln) | |
X | g.108580706G= | CA2450683086 | COL4A5 | c.859G= (p.Glu287=) c.535G= (p.Glu179=) c.874G= (p.Glu292=) | |
X | g.108580706G>T | CA258334 | COL4A5 | c.859G>T (p.Glu287Ter) c.535G>T (p.Glu179Ter) c.874G>T (p.Glu292Ter) | dbSNP |
X | g.108580707A>C | CA413926241 | COL4A5 | c.860A>C (p.Glu287Ala) c.536A>C (p.Glu179Ala) c.875A>C (p.Glu292Ala) | |
X | g.108580707A>G | CA413926244 | COL4A5 | c.860A>G (p.Glu287Gly) c.536A>G (p.Glu179Gly) c.875A>G (p.Glu292Gly) | |
X | g.108580707A>T | CA413926245 | COL4A5 | c.860A>T (p.Glu287Val) c.536A>T (p.Glu179Val) c.875A>T (p.Glu292Val) | |
X | g.108580708G>A | CA10488594 | COL4A5 | c.861G>A (p.Glu287=) c.537G>A (p.Glu179=) c.876G>A (p.Glu292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580708G>C | CA413926247 | COL4A5 | c.861G>C (p.Glu287Asp) c.537G>C (p.Glu179Asp) c.876G>C (p.Glu292Asp) | dbSNP |
X | g.108580708G= | CA2450683088 | COL4A5 | c.861G= (p.Glu287=) c.537G= (p.Glu179=) c.876G= (p.Glu292=) | |
X | g.108580708G>T | CA413926252 | COL4A5 | c.861G>T (p.Glu287Asp) c.537G>T (p.Glu179Asp) c.876G>T (p.Glu292Asp) | |
X | g.108580708_108580709delinsGA | CA2450683087 | COL4A5 | c.861_862delinsGA (p.Glu287=) c.537_538delinsGA (p.Glu179=) c.876_877delinsGA (p.Glu292=) | |
X | g.108580709A= | CA2450683089 | COL4A5 | c.862A= (p.Lys288=) c.538A= (p.Lys180=) c.877A= (p.Lys293=) | |
X | g.108580709A>C | CA413926253 | COL4A5 | c.862A>C (p.Lys288Gln) c.538A>C (p.Lys180Gln) c.877A>C (p.Lys293Gln) | |
X | g.108580709A>G | CA10488595 | COL4A5 | c.862A>G (p.Lys288Glu) c.538A>G (p.Lys180Glu) c.877A>G (p.Lys293Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580709A>T | CA413926254 | COL4A5 | c.862A>T (p.Lys288Ter) c.538A>T (p.Lys180Ter) c.877A>T (p.Lys293Ter) | |
X | g.108580710del | CA891843915 | COL4A5 | c.863del (p.Lys288ArgfsTer?) c.539del (p.Lys180ArgfsTer?) c.878del (p.Lys293ArgfsTer?) | |
X | g.108580710A>C | CA413926256 | COL4A5 | c.863A>C (p.Lys288Thr) c.539A>C (p.Lys180Thr) c.878A>C (p.Lys293Thr) | |
X | g.108580710A>G | CA413926259 | COL4A5 | c.863A>G (p.Lys288Arg) c.539A>G (p.Lys180Arg) c.878A>G (p.Lys293Arg) | |
X | g.108580710A>T | CA413926262 | COL4A5 | c.863A>T (p.Lys288Met) c.539A>T (p.Lys180Met) c.878A>T (p.Lys293Met) | |
X | g.108580710_108580711delinsAG | CA2450683090 | COL4A5 | c.863_864delinsAG (p.Lys288=) c.539_540delinsAG (p.Lys180=) c.878_879delinsAG (p.Lys293=) | |
X | g.108580711G>A | CA517991898 | COL4A5 | c.864G>A (p.Lys288=) c.540G>A (p.Lys180=) c.879G>A (p.Lys293=) | ClinVar dbSNP |
X | g.108580711G>C | CA413926264 | COL4A5 | c.864G>C (p.Lys288Asn) c.540G>C (p.Lys180Asn) c.879G>C (p.Lys293Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580711G= | CA2450683091 | COL4A5 | c.864G= (p.Lys288=) c.540G= (p.Lys180=) c.879G= (p.Lys293=) | |
X | g.108580711G>T | CA413926266 | COL4A5 | c.864G>T (p.Lys288Asn) c.540G>T (p.Lys180Asn) c.879G>T (p.Lys293Asn) | |
X | g.108580713del | CA258339 | COL4A5 | c.866del (p.Gly289ValfsTer?) c.542del (p.Gly181ValfsTer?) c.881del (p.Gly294ValfsTer?) | dbSNP |
X | g.108580712G>A | CA413926272 | COL4A5 | c.865G>A (p.Gly289Ser) c.541G>A (p.Gly181Ser) c.880G>A (p.Gly294Ser) | ClinVar dbSNP |
X | g.108580712G>C | CA413926275 | COL4A5 | c.865G>C (p.Gly289Arg) c.541G>C (p.Gly181Arg) c.880G>C (p.Gly294Arg) | |
X | g.108580712G= | CA2450683092 | COL4A5 | c.865G= (p.Gly289=) c.541G= (p.Gly181=) c.880G= (p.Gly294=) | |
X | g.108580712G>T | CA413926285 | COL4A5 | c.865G>T (p.Gly289Cys) c.541G>T (p.Gly181Cys) c.880G>T (p.Gly294Cys) | |
X | g.108580713G>A | CA413926301 | COL4A5 | c.866G>A (p.Gly289Asp) c.542G>A (p.Gly181Asp) c.881G>A (p.Gly294Asp) | ClinVar dbSNP |
X | g.108580713G>C | CA413926297 | COL4A5 | c.866G>C (p.Gly289Ala) c.542G>C (p.Gly181Ala) c.881G>C (p.Gly294Ala) | |
X | g.108580713G= | CA2450683093 | COL4A5 | c.866G= (p.Gly289=) c.542G= (p.Gly181=) c.881G= (p.Gly294=) | |
X | g.108580713G>T | CA258337 | COL4A5 | c.866G>T (p.Gly289Val) c.542G>T (p.Gly181Val) c.881G>T (p.Gly294Val) | ClinVar dbSNP |
X | g.[108580713G>T;108686096C>T] | CA033428 | COL4A5 | c.[866G>T;4282C>T] (p.[Gly289Val;Arg1428Cys]) c.[866G>T;4264C>T] (p.[Gly289Val;Arg1422Cys]) c.[866G>T;4273C>T] (p.[Gly289Val;Arg1425Cys]) c.[542G>T;3958C>T] (p.[Gly181Val;Arg1320Cys]) c.[881G>T;4297C>T] (p.[Gly294Val;Arg1433Cys]) c.[881G>T;4288C>T] (p.[Gly294Val;Arg1430Cys]) c.[881G>T;4279C>T] (p.[Gly294Val;Arg1427Cys]) | |
X | g.108580714T>A | CA517991899 | COL4A5 | c.867T>A (p.Gly289=) c.543T>A (p.Gly181=) c.882T>A (p.Gly294=) | ClinVar |
X | g.108580714T>C | CA517991900 | COL4A5 | c.867T>C (p.Gly289=) c.543T>C (p.Gly181=) c.882T>C (p.Gly294=) | COSMIC |
X | g.108580714T>G | CA517991901 | COL4A5 | c.867T>G (p.Gly289=) c.543T>G (p.Gly181=) c.882T>G (p.Gly294=) | |
X | g.108580715del | CA2695235191 | COL4A5 | c.868del (p.Glu290SerfsTer?) c.544del (p.Glu182SerfsTer?) c.883del (p.Glu295SerfsTer?) | |
X | g.108580715G>A | CA413926306 | COL4A5 | c.868G>A (p.Glu290Lys) c.544G>A (p.Glu182Lys) c.883G>A (p.Glu295Lys) | |
X | g.108580715G>C | CA413926308 | COL4A5 | c.868G>C (p.Glu290Gln) c.544G>C (p.Glu182Gln) c.883G>C (p.Glu295Gln) | |
X | g.108580715G>T | CA413926310 | COL4A5 | c.868G>T (p.Glu290Ter) c.544G>T (p.Glu182Ter) c.883G>T (p.Glu295Ter) | ClinVar |
X | g.108580716A>C | CA413926315 | COL4A5 | c.869A>C (p.Glu290Ala) c.545A>C (p.Glu182Ala) c.884A>C (p.Glu295Ala) | |
X | g.108580716A>G | CA413926322 | COL4A5 | c.869A>G (p.Glu290Gly) c.545A>G (p.Glu182Gly) c.884A>G (p.Glu295Gly) | |
X | g.108580716A>T | CA413926326 | COL4A5 | c.869A>T (p.Glu290Val) c.545A>T (p.Glu182Val) c.884A>T (p.Glu295Val) | |
X | g.108580717G>A | CA517991902 | COL4A5 | c.870G>A (p.Glu290=) c.546G>A (p.Glu182=) c.885G>A (p.Glu295=) | |
X | g.108580717G>C | CA413926328 | COL4A5 | c.870G>C (p.Glu290Asp) c.546G>C (p.Glu182Asp) c.885G>C (p.Glu295Asp) | |
X | g.108580717G>T | CA413926329 | COL4A5 | c.870G>T (p.Glu290Asp) c.546G>T (p.Glu182Asp) c.885G>T (p.Glu295Asp) | |
X | g.108580718C>A | CA413926330 | COL4A5 | c.871C>A (p.Gln291Lys) c.547C>A (p.Gln183Lys) c.886C>A (p.Gln296Lys) | |
X | g.108580718C= | CA2450683094 | COL4A5 | c.871C= (p.Gln291=) c.547C= (p.Gln183=) c.886C= (p.Gln296=) | |
X | g.108580718C>G | CA413926331 | COL4A5 | c.871C>G (p.Gln291Glu) c.547C>G (p.Gln183Glu) c.886C>G (p.Gln296Glu) | dbSNP |
X | g.108580718C>T | CA413926335 | COL4A5 | c.871C>T (p.Gln291Ter) c.547C>T (p.Gln183Ter) c.886C>T (p.Gln296Ter) | |
X | g.108580718_108580719delinsCA | CA2450683095 | COL4A5 | c.871_872delinsCA (p.Gln291=) c.547_548delinsCA (p.Gln183=) c.886_887delinsCA (p.Gln296=) | |
X | g.108580719A= | CA2450683096 | COL4A5 | c.872A= (p.Gln291=) c.548A= (p.Gln183=) c.887A= (p.Gln296=) | |
X | g.108580719A>C | CA10488596 | COL4A5 | c.872A>C (p.Gln291Pro) c.548A>C (p.Gln183Pro) c.887A>C (p.Gln296Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580719A>G | CA413926350 | COL4A5 | c.872A>G (p.Gln291Arg) c.548A>G (p.Gln183Arg) c.887A>G (p.Gln296Arg) | |
X | g.108580719A>T | CA413926345 | COL4A5 | c.872A>T (p.Gln291Leu) c.548A>T (p.Gln183Leu) c.887A>T (p.Gln296Leu) | |
X | g.108580720del | CA258340 | COL4A5 | c.873del (p.Gly292GlufsTer?) c.549del (p.Gly184GlufsTer?) c.888del (p.Gly297GlufsTer?) | dbSNP |
X | g.108580720A>C | CA413926377 | COL4A5 | c.873A>C (p.Gln291His) c.549A>C (p.Gln183His) c.888A>C (p.Gln296His) | |
X | g.108580720A>G | CA517991903 | COL4A5 | c.873A>G (p.Gln291=) c.549A>G (p.Gln183=) c.888A>G (p.Gln296=) | gnomAD v4 |
X | g.108580720A>T | CA413926381 | COL4A5 | c.873A>T (p.Gln291His) c.549A>T (p.Gln183His) c.888A>T (p.Gln296His) | |
X | g.108580720_108580721delinsAG | CA2450683097 | COL4A5 | c.873_874delinsAG (p.Gln291=) c.549_550delinsAG (p.Gln183=) c.888_889delinsAG (p.Gln296=) | |
X | g.108580721G>A | CA413926389 | COL4A5 | c.874G>A (p.Gly292Arg) c.550G>A (p.Gly184Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
X | g.108580721G>C | CA258341 | COL4A5 | c.874G>C (p.Gly292Arg) c.550G>C (p.Gly184Arg) c.889G>C (p.Gly297Arg) | ClinVar dbSNP |
X | g.108580721G= | CA2450683098 | COL4A5 | c.874G= (p.Gly292=) c.550G= (p.Gly184=) c.889G= (p.Gly297=) | |
X | g.108580721G>T | CA413926398 | COL4A5 | c.874G>T (p.Gly292Ter) c.550G>T (p.Gly184Ter) c.889G>T (p.Gly297Ter) | |
X | g.108580722del | CA258345 | COL4A5 | c.875del (p.Gly292GlufsTer?) c.551del (p.Gly184GlufsTer?) c.890del (p.Gly297GlufsTer?) | ClinVar dbSNP |
X | g.108580722G>A | CA413926404 | COL4A5 | c.875G>A (p.Gly292Glu) c.551G>A (p.Gly184Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
X | g.108580722G>C | CA413926408 | COL4A5 | c.875G>C (p.Gly292Ala) c.551G>C (p.Gly184Ala) c.890G>C (p.Gly297Ala) | |
X | g.108580722G= | CA2450683099 | COL4A5 | c.875G= (p.Gly292=) c.551G= (p.Gly184=) c.890G= (p.Gly297=) | |
X | g.108580722G>T | CA258343 | COL4A5 | c.875G>T (p.Gly292Val) c.551G>T (p.Gly184Val) c.890G>T (p.Gly297Val) | dbSNP |
X | g.108580723A= | CA2450683100 | COL4A5 | c.876A= (p.Gly292=) c.552A= (p.Gly184=) c.891A= (p.Gly297=) | |
X | g.108580723A>C | CA517991904 | COL4A5 | c.876A>C (p.Gly292=) c.552A>C (p.Gly184=) c.891A>C (p.Gly297=) | |
X | g.108580723A>G | CA517991905 | COL4A5 | c.876A>G (p.Gly292=) c.552A>G (p.Gly184=) c.891A>G (p.Gly297=) | |
X | g.108580723A>T | CA517991906 | COL4A5 | c.876A>T (p.Gly292=) c.552A>T (p.Gly184=) c.891A>T (p.Gly297=) | |
X | g.108580724G>A | CA413926415 | COL4A5 | c.877G>A (p.Glu293Lys) c.553G>A (p.Glu185Lys) c.892G>A (p.Glu298Lys) | gnomAD v4 |
X | g.108580724G>C | CA413926419 | COL4A5 | c.877G>C (p.Glu293Gln) c.553G>C (p.Glu185Gln) c.892G>C (p.Glu298Gln) | dbSNP gnomAD v4 |
X | g.108580724G= | CA2450683101 | COL4A5 | c.877G= (p.Glu293=) c.553G= (p.Glu185=) c.892G= (p.Glu298=) | |
X | g.108580724G>T | CA413926427 | COL4A5 | c.877G>T (p.Glu293Ter) c.553G>T (p.Glu185Ter) c.892G>T (p.Glu298Ter) | |
X | g.108580725A>C | CA413926432 | COL4A5 | c.878A>C (p.Glu293Ala) c.554A>C (p.Glu185Ala) c.893A>C (p.Glu298Ala) | |
X | g.108580725A>G | CA413926438 | COL4A5 | c.878A>G (p.Glu293Gly) c.554A>G (p.Glu185Gly) c.893A>G (p.Glu298Gly) | |
X | g.108580725A>T | CA413926430 | COL4A5 | c.878A>T (p.Glu293Val) c.554A>T (p.Glu185Val) c.893A>T (p.Glu298Val) | |
X | g.108580727_108580743del | CA2837995045 | COL4A5 | c.880_891+5del c.556_567+5del c.895_906+5del | |
X | g.108580726G>A | CA517991907 | COL4A5 | c.879G>A (p.Glu293=) c.555G>A (p.Glu185=) c.894G>A (p.Glu298=) | |
X | g.108580726G>C | CA413926445 | COL4A5 | c.879G>C (p.Glu293Asp) c.555G>C (p.Glu185Asp) c.894G>C (p.Glu298Asp) | |
X | g.108580726G>T | CA413926442 | COL4A5 | c.879G>T (p.Glu293Asp) c.555G>T (p.Glu185Asp) c.894G>T (p.Glu298Asp) | |
X | g.108580727C>A | CA413926466 | COL4A5 | c.880C>A (p.Pro294Thr) c.556C>A (p.Pro186Thr) c.895C>A (p.Pro299Thr) | |
X | g.108580727C= | CA2450683102 | COL4A5 | c.880C= (p.Pro294=) c.556C= (p.Pro186=) c.895C= (p.Pro299=) | |
X | g.108580727C>G | CA413926463 | COL4A5 | c.880C>G (p.Pro294Ala) c.556C>G (p.Pro186Ala) c.895C>G (p.Pro299Ala) | |
X | g.108580727C>T | CA10488597 | COL4A5 | c.880C>T (p.Pro294Ser) c.556C>T (p.Pro186Ser) c.895C>T (p.Pro299Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580728C>A | CA413926468 | COL4A5 | c.881C>A (p.Pro294Gln) c.557C>A (p.Pro186Gln) c.896C>A (p.Pro299Gln) | |
X | g.108580728C>G | CA413926471 | COL4A5 | c.881C>G (p.Pro294Arg) c.557C>G (p.Pro186Arg) c.896C>G (p.Pro299Arg) | |
X | g.108580728C>T | CA413926469 | COL4A5 | c.881C>T (p.Pro294Leu) c.557C>T (p.Pro186Leu) c.896C>T (p.Pro299Leu) | |
X | g.108580729A>C | CA517991908 | COL4A5 | c.882A>C (p.Pro294=) c.558A>C (p.Pro186=) c.897A>C (p.Pro299=) | |
X | g.108580729A>G | CA517991909 | COL4A5 | c.882A>G (p.Pro294=) c.558A>G (p.Pro186=) c.897A>G (p.Pro299=) | ClinVar |
X | g.108580729A>T | CA517991910 | COL4A5 | c.882A>T (p.Pro294=) c.558A>T (p.Pro186=) c.897A>T (p.Pro299=) | |
X | g.108580730G>A | CA413926474 | COL4A5 | c.883G>A (p.Gly295Ser) c.559G>A (p.Gly187Ser) c.898G>A (p.Gly300Ser) | ClinVar dbSNP |
X | g.108580730G>C | CA413926477 | COL4A5 | c.883G>C (p.Gly295Arg) c.559G>C (p.Gly187Arg) c.898G>C (p.Gly300Arg) | |
X | g.108580730G>T | CA413926480 | COL4A5 | c.883G>T (p.Gly295Cys) c.559G>T (p.Gly187Cys) c.898G>T (p.Gly300Cys) | |
X | g.108580731G>A | CA258346 | COL4A5 | c.884G>A (p.Gly295Asp) c.560G>A (p.Gly187Asp) c.899G>A (p.Gly300Asp) | ClinVar dbSNP |
X | g.108580731G>C | CA413926488 | COL4A5 | c.884G>C (p.Gly295Ala) c.560G>C (p.Gly187Ala) c.899G>C (p.Gly300Ala) | |
X | g.108580731G= | CA2450683103 | COL4A5 | c.884G= (p.Gly295=) c.560G= (p.Gly187=) c.899G= (p.Gly300=) | |
X | g.108580731G>T | CA413926493 | COL4A5 | c.884G>T (p.Gly295Val) c.560G>T (p.Gly187Val) c.899G>T (p.Gly300Val) | |
X | g.108580732del | CA2695235192 | COL4A5 | c.885del (p.Arg297GlufsTer?) c.561del (p.Arg189GlufsTer?) c.900del (p.Arg302GlufsTer?) | |
X | g.108580732C>A | CA517991911 | COL4A5 | c.885C>A (p.Gly295=) c.561C>A (p.Gly187=) c.900C>A (p.Gly300=) | COSMIC COSMIC |
X | g.108580732C>G | CA517991912 | COL4A5 | c.885C>G (p.Gly295=) c.561C>G (p.Gly187=) c.900C>G (p.Gly300=) | |
X | g.108580732C>T | CA517991913 | COL4A5 | c.885C>T (p.Gly295=) c.561C>T (p.Gly187=) c.900C>T (p.Gly300=) | |
X | g.108580733A>C | CA413926496 | COL4A5 | c.886A>C (p.Lys296Gln) c.562A>C (p.Lys188Gln) c.901A>C (p.Lys301Gln) | |
X | g.108580733A>G | CA413926498 | COL4A5 | c.886A>G (p.Lys296Glu) c.562A>G (p.Lys188Glu) c.901A>G (p.Lys301Glu) | |
X | g.108580733A>T | CA413926504 | COL4A5 | c.886A>T (p.Lys296Ter) c.562A>T (p.Lys188Ter) c.901A>T (p.Lys301Ter) | |
X | g.108580735_108580736del | CA2695235193 | COL4A5 | c.888_889del (p.Gly298Ter) c.564_565del (p.Gly190Ter) c.903_904del (p.Gly303Ter) | |
X | g.108580734A>C | CA413926509 | COL4A5 | c.887A>C (p.Lys296Thr) c.563A>C (p.Lys188Thr) c.902A>C (p.Lys301Thr) | |
X | g.108580734A>G | CA413926518 | COL4A5 | c.887A>G (p.Lys296Arg) c.563A>G (p.Lys188Arg) c.902A>G (p.Lys301Arg) | gnomAD v4 |
X | g.108580734A>T | CA413926522 | COL4A5 | c.887A>T (p.Lys296Ile) c.563A>T (p.Lys188Ile) c.902A>T (p.Lys301Ile) | |
X | g.108580735A>C | CA413926524 | COL4A5 | c.888A>C (p.Lys296Asn) c.564A>C (p.Lys188Asn) c.903A>C (p.Lys301Asn) | |
X | g.108580735A>G | CA517991914 | COL4A5 | c.888A>G (p.Lys296=) c.564A>G (p.Lys188=) c.903A>G (p.Lys301=) | |
X | g.108580735A>T | CA413926527 | COL4A5 | c.888A>T (p.Lys296Asn) c.564A>T (p.Lys188Asn) c.903A>T (p.Lys301Asn) | |
X | g.108580735_108580736insGATAGGAGGA | CA2822895071 | COL4A5 | c.888_889insGATAGGAGGA (p.Arg297AspfsTer6) c.564_565insGATAGGAGGA (p.Arg189AspfsTer6) c.903_904insGATAGGAGGA (p.Arg302AspfsTer6) | |
X | g.108580736A>C | CA517991915 | COL4A5 | c.889A>C (p.Arg297=) c.565A>C (p.Arg189=) c.904A>C (p.Arg302=) | gnomAD v4 |
X | g.108580736A>G | CA413926554 | COL4A5 | c.889A>G (p.Arg297Gly) c.565A>G (p.Arg189Gly) c.904A>G (p.Arg302Gly) | |
X | g.108580736A>T | CA413926557 | COL4A5 | c.889A>T (p.Arg297Ter) c.565A>T (p.Arg189Ter) c.904A>T (p.Arg302Ter) | |
X | g.108580738_108580739del | CA2580612293 | COL4A5 | c.891_891+1del c.567_567+1del c.906_906+1del | ClinVar |
X | g.108580737G>A | CA413926559 | COL4A5 | c.890G>A (p.Arg297Lys) c.566G>A (p.Arg189Lys) c.905G>A (p.Arg302Lys) | |
X | g.108580737G>C | CA413926561 | COL4A5 | c.890G>C (p.Arg297Thr) c.566G>C (p.Arg189Thr) c.905G>C (p.Arg302Thr) | |
X | g.108580737G>T | CA413926564 | COL4A5 | c.890G>T (p.Arg297Ile) c.566G>T (p.Arg189Ile) c.905G>T (p.Arg302Ile) | |
X | g.108580738A= | CA2450683104 | COL4A5 | c.891A= (p.Arg297=) c.567A= (p.Arg189=) c.906A= (p.Arg302=) | |
X | g.108580738A>C | CA413926573 | COL4A5 | c.891A>C (p.Arg297Ser) c.567A>C (p.Arg189Ser) c.906A>C (p.Arg302Ser) | |
X | g.108580738A>G | CA517991916 | COL4A5 | c.891A>G (p.Arg297=) c.567A>G (p.Arg189=) c.906A>G (p.Arg302=) | |
X | g.108580738A>T | CA413926575 | COL4A5 | c.891A>T (p.Arg297Ser) c.567A>T (p.Arg189Ser) c.906A>T (p.Arg302Ser) | dbSNP gnomAD v4 |
X | g.108580739G>A | CA258348 | COL4A5 | c.891+1G>A (n.891+1G>A) c.567+1G>A (n.567+1G>A) c.906+1G>A (n.906+1G>A) | ClinVar dbSNP |
X | g.108580739G>C | CA413926592 | COL4A5 | c.891+1G>C (n.891+1G>C) c.567+1G>C (n.567+1G>C) c.906+1G>C (n.906+1G>C) | |
X | g.108580739G= | CA2450683105 | COL4A5 | c.891+1G= (n.891+1G=) c.567+1G= (n.567+1G=) c.906+1G= (n.906+1G=) | |
X | g.108580739G>T | CA413926601 | COL4A5 | c.891+1G>T (n.891+1G>T) c.567+1G>T (n.567+1G>T) c.906+1G>T (n.906+1G>T) | ClinVar dbSNP |
X | g.108580740del | CA2739273686 | COL4A5 | c.891+2del (n.891+2del) c.567+2del (n.567+2del) c.906+2del (n.906+2del) | ClinVar |
X | g.108580740T>A | CA413926608 | COL4A5 | c.891+2T>A (n.891+2T>A) c.567+2T>A (n.567+2T>A) c.906+2T>A (n.906+2T>A) | ClinVar dbSNP |
X | g.108580740T>C | CA413926606 | COL4A5 | c.891+2T>C (n.891+2T>C) c.567+2T>C (n.567+2T>C) c.906+2T>C (n.906+2T>C) | |
X | g.108580740T>G | CA413926604 | COL4A5 | c.891+2T>G (n.891+2T>G) c.567+2T>G (n.567+2T>G) c.906+2T>G (n.906+2T>G) | |
X | g.108580741A>G | CA2579675981 | COL4A5 | c.891+3A>G (n.891+3A>G) c.567+3A>G (n.567+3A>G) c.906+3A>G (n.906+3A>G) | |
X | g.108580741_108580742insTTAGGCAA | CA2822895079 | COL4A5 | c.891+3_891+4insTTAGGCAA (n.891+3_891+4insTTAGGCAA) c.567+3_567+4insTTAGGCAA (n.567+3_567+4insTTAGGCAA) c.906+3_906+4insTTAGGCAA (n.906+3_906+4insTTAGGCAA) | |
X | g.108580742A= | CA2450683106 | COL4A5 | c.891+4A= (n.891+4A=) c.567+4A= (n.567+4A=) c.906+4A= (n.906+4A=) | |
X | g.108580742A>C | CA2450683107 | COL4A5 | c.891+4A>C (n.891+4A>C) c.567+4A>C (n.567+4A>C) c.906+4A>C (n.906+4A>C) | dbSNP |
X | g.108580742A>G | CA645608363 | COL4A5 | c.891+4A>G (n.891+4A>G) c.567+4A>G (n.567+4A>G) c.906+4A>G (n.906+4A>G) | dbSNP COSMIC COSMIC |
X | g.108580743G>A | CA2499226302 | COL4A5 | c.891+5G>A (n.891+5G>A) c.567+5G>A (n.567+5G>A) c.906+5G>A (n.906+5G>A) | ClinVar dbSNP |
X | g.108580744T>C | CA2579675982 | COL4A5 | c.891+6T>C (n.891+6T>C) c.567+6T>C (n.567+6T>C) c.906+6T>C (n.906+6T>C) | |
X | g.108580746_108580754del | CA2499226303 | COL4A5 | c.891+8_891+16del (n.891+8_891+16del) c.567+8_567+16del (n.567+8_567+16del) c.906+8_906+16del (n.906+8_906+16del) | ClinVar dbSNP |
X | g.108580745G>A | CA10488598 | COL4A5 | c.891+7G>A (n.891+7G>A) c.567+7G>A (n.567+7G>A) c.906+7G>A (n.906+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580745G>C | CA2573159078 | COL4A5 | c.891+7G>C (n.891+7G>C) c.567+7G>C (n.567+7G>C) c.906+7G>C (n.906+7G>C) | ClinVar dbSNP |
X | g.108580745G= | CA2450683108 | COL4A5 | c.891+7G= (n.891+7G=) c.567+7G= (n.567+7G=) c.906+7G= (n.906+7G=) | |
X | g.108580747T>A | CA2837500199 | COL4A5 | c.891+9T>A (n.891+9T>A) c.567+9T>A (n.567+9T>A) c.906+9T>A (n.906+9T>A) | |
X | g.108580747T>C | CA10488599 | COL4A5 | c.891+9T>C (n.891+9T>C) c.567+9T>C (n.567+9T>C) c.906+9T>C (n.906+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580747T>G | CA891843916 | COL4A5 | c.891+9T>G (n.891+9T>G) c.567+9T>G (n.567+9T>G) c.906+9T>G (n.906+9T>G) | ClinVar dbSNP |
X | g.108580747T= | CA2450683109 | COL4A5 | c.891+9T= (n.891+9T=) c.567+9T= (n.567+9T=) c.906+9T= (n.906+9T=) | |
X | g.108580750A>G | CA2694412738 | COL4A5 | c.891+12A>G (n.891+12A>G) c.567+12A>G (n.567+12A>G) c.906+12A>G (n.906+12A>G) | gnomAD v4 |
X | g.108580751A= | CA2450683110 | COL4A5 | c.891+13A= (n.891+13A=) c.567+13A= (n.567+13A=) c.906+13A= (n.906+13A=) | |
X | g.108580751A>G | CA10488600 | COL4A5 | c.891+13A>G (n.891+13A>G) c.567+13A>G (n.567+13A>G) c.906+13A>G (n.906+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580752C>A | CA2694412742 | COL4A5 | c.891+14C>A (n.891+14C>A) c.567+14C>A (n.567+14C>A) c.906+14C>A (n.906+14C>A) | gnomAD v4 |
X | g.108580753T>C | CA2694412743 | COL4A5 | c.891+15T>C (n.891+15T>C) c.567+15T>C (n.567+15T>C) c.906+15T>C (n.906+15T>C) | gnomAD v4 |
X | g.108580754G>T | CA2694412746 | COL4A5 | c.891+16G>T (n.891+16G>T) c.567+16G>T (n.567+16G>T) c.906+16G>T (n.906+16G>T) | gnomAD v4 |
X | g.108580755C>A | CA2579675983 | COL4A5 | c.891+17C>A (n.891+17C>A) c.567+17C>A (n.567+17C>A) c.906+17C>A (n.906+17C>A) | |
X | g.108580758A= | CA2450683111 | COL4A5 | c.891+20A= (n.891+20A=) c.567+20A= (n.567+20A=) c.906+20A= (n.906+20A=) | |
X | g.108580758A>C | CA2694412750 | COL4A5 | c.891+20A>C (n.891+20A>C) c.567+20A>C (n.567+20A>C) c.906+20A>C (n.906+20A>C) | gnomAD v4 |
X | g.108580758A>G | CA643750290 | COL4A5 | c.891+20A>G (n.891+20A>G) c.567+20A>G (n.567+20A>G) c.906+20A>G (n.906+20A>G) | ClinVar dbSNP gnomAD v2 |
X | g.108580759T>C | CA2515620985 | COL4A5 | c.891+21T>C (n.891+21T>C) c.567+21T>C (n.567+21T>C) c.906+21T>C (n.906+21T>C) | |
X | g.108580761T>C | CA2694412752 | COL4A5 | c.891+23T>C (n.891+23T>C) c.567+23T>C (n.567+23T>C) c.906+23T>C (n.906+23T>C) | gnomAD v4 |
X | g.108580763C>A | CA2694412753 | COL4A5 | c.891+25C>A (n.891+25C>A) c.567+25C>A (n.567+25C>A) c.906+25C>A (n.906+25C>A) | gnomAD v4 |
X | g.108580764T>C | CA2694412756 | COL4A5 | c.891+26T>C (n.891+26T>C) c.567+26T>C (n.567+26T>C) c.906+26T>C (n.906+26T>C) | gnomAD v4 |
X | g.108580766T>C | CA2579675984 | COL4A5 | c.891+28T>C (n.891+28T>C) c.567+28T>C (n.567+28T>C) c.906+28T>C (n.906+28T>C) | gnomAD v4 |
X | g.108580767G>A | CA2694412761 | COL4A5 | c.891+29G>A (n.891+29G>A) c.567+29G>A (n.567+29G>A) c.906+29G>A (n.906+29G>A) | gnomAD v4 |
X | g.108580767G>T | CA2522834211 | COL4A5 | c.891+29G>T (n.891+29G>T) c.567+29G>T (n.567+29G>T) c.906+29G>T (n.906+29G>T) | |
X | g.108580768C>A | CA2694412763 | COL4A5 | c.891+30C>A (n.891+30C>A) c.567+30C>A (n.567+30C>A) c.906+30C>A (n.906+30C>A) | gnomAD v4 |
X | g.108580775dup | CA2694412766 | COL4A5 | c.891+37dup (n.891+37dup) c.567+37dup (n.567+37dup) c.906+37dup (n.906+37dup) | gnomAD v4 |
X | g.108580775del | CA2694412768 | COL4A5 | c.891+37del (n.891+37del) c.567+37del (n.567+37del) c.906+37del (n.906+37del) | gnomAD v4 |
X | g.108580770A>G | CA2694412769 | COL4A5 | c.891+32A>G (n.891+32A>G) c.567+32A>G (n.567+32A>G) c.906+32A>G (n.906+32A>G) | gnomAD v4 |
X | g.108580771A>G | CA2694412770 | COL4A5 | c.891+33A>G (n.891+33A>G) c.567+33A>G (n.567+33A>G) c.906+33A>G (n.906+33A>G) | gnomAD v4 |
X | g.108580772A= | CA2450683112 | COL4A5 | c.891+34A= (n.891+34A=) c.567+34A= (n.567+34A=) c.906+34A= (n.906+34A=) | |
X | g.108580772A>G | CA2450683113 | COL4A5 | c.891+34A>G (n.891+34A>G) c.567+34A>G (n.567+34A>G) c.906+34A>G (n.906+34A>G) | dbSNP |
X | g.108580773A= | CA2450683114 | COL4A5 | c.891+35A= (n.891+35A=) c.567+35A= (n.567+35A=) c.906+35A= (n.906+35A=) | |
X | g.108580773A>G | CA10488601 | COL4A5 | c.891+35A>G (n.891+35A>G) c.567+35A>G (n.567+35A>G) c.906+35A>G (n.906+35A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580773_108580774insCCAAACACACCCAACAC | CA2822895082 | COL4A5 | c.891+35_891+36insCCAAACACACCCAACAC (n.891+35_891+36insCCAAACACACCCAACAC) c.567+35_567+36insCCAAACACACCCAACAC (n.567+35_567+36insCCAAACACACCCAACAC) c.906+35_906+36insCCAAACACACCCAACAC (n.906+35_906+36insCCAAACACACCCAACAC) | |
X | g.108580775A= | CA2450683115 | COL4A5 | c.891+37A= (n.891+37A=) c.567+37A= (n.567+37A=) c.906+37A= (n.906+37A=) | |
X | g.108580775A>G | CA10488602 | COL4A5 | c.891+37A>G (n.891+37A>G) c.567+37A>G (n.567+37A>G) c.906+37A>G (n.906+37A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108580775A>T | CA10488603 | COL4A5 | c.891+37A>T (n.891+37A>T) c.567+37A>T (n.567+37A>T) c.906+37A>T (n.906+37A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580776T>C | CA2694412788 | COL4A5 | c.891+38T>C (n.891+38T>C) c.567+38T>C (n.567+38T>C) c.906+38T>C (n.906+38T>C) | gnomAD v4 |
X | g.108580778C>A | CA334180681 | COL4A5 | c.891+40C>A (n.891+40C>A) c.567+40C>A (n.567+40C>A) c.906+40C>A (n.906+40C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580778C= | CA2450683116 | COL4A5 | c.891+40C= (n.891+40C=) c.567+40C= (n.567+40C=) c.906+40C= (n.906+40C=) | |
X | g.108580778C>G | CA2450683117 | COL4A5 | c.891+40C>G (n.891+40C>G) c.567+40C>G (n.567+40C>G) c.906+40C>G (n.906+40C>G) | dbSNP |
X | g.108580778C>T | CA2694412792 | COL4A5 | c.891+40C>T (n.891+40C>T) c.567+40C>T (n.567+40C>T) c.906+40C>T (n.906+40C>T) | gnomAD v4 |
X | g.108580779T>C | CA2822895086 | COL4A5 | c.891+41T>C (n.891+41T>C) c.567+41T>C (n.567+41T>C) c.906+41T>C (n.906+41T>C) | |
X | g.108580782del | CA2579675985 | COL4A5 | c.891+44del (n.891+44del) c.567+44del (n.567+44del) c.906+44del (n.906+44del) | |
X | g.108580781A= | CA2450683118 | COL4A5 | c.891+43A= (n.891+43A=) c.567+43A= (n.567+43A=) c.906+43A= (n.906+43A=) | |
X | g.108580781A>T | CA10488604 | COL4A5 | c.891+43A>T (n.891+43A>T) c.567+43A>T (n.567+43A>T) c.906+43A>T (n.906+43A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580782A>G | CA2579675986 | COL4A5 | c.891+44A>G (n.891+44A>G) c.567+44A>G (n.567+44A>G) c.906+44A>G (n.906+44A>G) | |
X | g.108580782_108580786delinsATGTG | CA2450683119 | COL4A5 | c.891+44_891+48delinsATGTG (n.891+44_891+48delinsATGTG) c.567+44_567+48delinsATGTG (n.567+44_567+48delinsATGTG) c.906+44_906+48delinsATGTG (n.906+44_906+48delinsATGTG) | |
X | g.108580795_108580796dup | CA334180685 | COL4A5 | c.891+57_891+58dup (n.891+57_891+58dup) c.567+57_567+58dup (n.567+57_567+58dup) c.906+57_906+58dup (n.906+57_906+58dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580795_108580796del | CA10488605 | COL4A5 | c.891+57_891+58del (n.891+57_891+58del) c.567+57_567+58del (n.567+57_567+58del) c.906+57_906+58del (n.906+57_906+58del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580793_108580796del | CA2450683120 | COL4A5 | c.891+55_891+58del (n.891+55_891+58del) c.567+55_567+58del (n.567+55_567+58del) c.906+55_906+58del (n.906+55_906+58del) | dbSNP gnomAD v4 |
X | g.108580784G>A | CA10488606 | COL4A5 | c.891+46G>A (n.891+46G>A) c.567+46G>A (n.567+46G>A) c.906+46G>A (n.906+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580784G= | CA2450683121 | COL4A5 | c.891+46G= (n.891+46G=) c.567+46G= (n.567+46G=) c.906+46G= (n.906+46G=) | |
X | g.108580786G>A | CA2450683123 | COL4A5 | c.891+48G>A (n.891+48G>A) c.567+48G>A (n.567+48G>A) c.906+48G>A (n.906+48G>A) | dbSNP gnomAD v4 |
X | g.108580786G= | CA2450683122 | COL4A5 | c.891+48G= (n.891+48G=) c.567+48G= (n.567+48G=) c.906+48G= (n.906+48G=) |