Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108580621T>A | CA2694412608 | COL4A5 | c.834+35T>A (n.834+35T>A) c.510+35T>A (n.510+35T>A) c.849+35T>A (n.849+35T>A) | gnomAD v4 |
X | g.108580626T>C | CA643750285 | COL4A5 | c.834+40T>C (n.834+40T>C) c.510+40T>C (n.510+40T>C) c.849+40T>C (n.849+40T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580626T= | CA2450683051 | COL4A5 | c.834+40T= (n.834+40T=) c.510+40T= (n.510+40T=) c.849+40T= (n.849+40T=) | |
X | g.108580627G>T | CA2579675977 | COL4A5 | c.834+41G>T (n.834+41G>T) c.510+41G>T (n.510+41G>T) c.849+41G>T (n.849+41G>T) | |
X | g.108580628G>A | CA10488582 | COL4A5 | c.834+42G>A (n.834+42G>A) c.510+42G>A (n.510+42G>A) c.849+42G>A (n.849+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580628G= | CA2450683052 | COL4A5 | c.834+42G= (n.834+42G=) c.510+42G= (n.510+42G=) c.849+42G= (n.849+42G=) | |
X | g.108580628G>T | CA2822895053 | COL4A5 | c.834+42G>T (n.834+42G>T) c.510+42G>T (n.510+42G>T) c.849+42G>T (n.849+42G>T) | |
X | g.108580629T>C | CA643750286 | COL4A5 | c.834+43T>C (n.834+43T>C) c.510+43T>C (n.510+43T>C) c.849+43T>C (n.849+43T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580629T= | CA2450683053 | COL4A5 | c.834+43T= (n.834+43T=) c.510+43T= (n.510+43T=) c.849+43T= (n.849+43T=) | |
X | g.108580630A= | CA2450683054 | COL4A5 | c.834+44A= (n.834+44A=) c.510+44A= (n.510+44A=) c.849+44A= (n.849+44A=) | |
X | g.108580630A>G | CA1136179764 | COL4A5 | c.834+44A>G (n.834+44A>G) c.510+44A>G (n.510+44A>G) c.849+44A>G (n.849+44A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580632T>C | CA2694412610 | COL4A5 | c.834+46T>C (n.834+46T>C) c.510+46T>C (n.510+46T>C) c.849+46T>C (n.849+46T>C) | gnomAD v4 |
X | g.108580632T>G | CA2822895055 | COL4A5 | c.834+46T>G (n.834+46T>G) c.510+46T>G (n.510+46T>G) c.849+46T>G (n.849+46T>G) | |
X | g.108580633G= | CA2450683055 | COL4A5 | c.834+47G= (n.834+47G=) c.510+47G= (n.510+47G=) c.849+47G= (n.849+47G=) | |
X | g.108580633G>T | CA334180640 | COL4A5 | c.834+47G>T (n.834+47G>T) c.510+47G>T (n.510+47G>T) c.849+47G>T (n.849+47G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580634G>T | CA2694412611 | COL4A5 | c.835-48G>T (n.835-48G>T) c.511-48G>T (n.511-48G>T) c.850-48G>T (n.850-48G>T) | gnomAD v4 |
X | g.108580635T>C | CA10488583 | COL4A5 | c.835-47T>C (n.835-47T>C) c.511-47T>C (n.511-47T>C) c.850-47T>C (n.850-47T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580635T= | CA2450683056 | COL4A5 | c.835-47T= (n.835-47T=) c.511-47T= (n.511-47T=) c.850-47T= (n.850-47T=) | |
X | g.108580636A= | CA2450683057 | COL4A5 | c.835-46A= (n.835-46A=) c.511-46A= (n.511-46A=) c.850-46A= (n.850-46A=) | |
X | g.108580636A>G | CA10488584 | COL4A5 | c.835-46A>G (n.835-46A>G) c.511-46A>G (n.511-46A>G) c.850-46A>G (n.850-46A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580637C>T | CA2694412616 | COL4A5 | c.835-45C>T (n.835-45C>T) c.511-45C>T (n.511-45C>T) c.850-45C>T (n.850-45C>T) | gnomAD v4 |
X | g.108580638A>T | CA2694412618 | COL4A5 | c.835-44A>T (n.835-44A>T) c.511-44A>T (n.511-44A>T) c.850-44A>T (n.850-44A>T) | gnomAD v4 |
X | g.108580639C>A | CA2694412619 | COL4A5 | c.835-43C>A (n.835-43C>A) c.511-43C>A (n.511-43C>A) c.850-43C>A (n.850-43C>A) | gnomAD v4 |
X | g.108580640A>G | CA2579675978 | COL4A5 | c.835-42A>G (n.835-42A>G) c.511-42A>G (n.511-42A>G) c.850-42A>G (n.850-42A>G) | |
X | g.108580641G>A | CA2579675979 | COL4A5 | c.835-41G>A (n.835-41G>A) c.511-41G>A (n.511-41G>A) c.850-41G>A (n.850-41G>A) | |
X | g.108580646C= | CA2450683058 | COL4A5 | c.835-36C= (n.835-36C=) c.511-36C= (n.511-36C=) c.850-36C= (n.850-36C=) | |
X | g.108580646C>T | CA334180644 | COL4A5 | c.835-36C>T (n.835-36C>T) c.511-36C>T (n.511-36C>T) c.850-36C>T (n.850-36C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580648A>G | CA2579675980 | COL4A5 | c.835-34A>G (n.835-34A>G) c.511-34A>G (n.511-34A>G) c.850-34A>G (n.850-34A>G) | gnomAD v4 |
X | g.108580650G>C | CA2450683060 | COL4A5 | c.835-32G>C (n.835-32G>C) c.511-32G>C (n.511-32G>C) c.850-32G>C (n.850-32G>C) | dbSNP |
X | g.108580650G= | CA2450683059 | COL4A5 | c.835-32G= (n.835-32G=) c.511-32G= (n.511-32G=) c.850-32G= (n.850-32G=) | |
X | g.108580651A>T | CA2822895057 | COL4A5 | c.835-31A>T (n.835-31A>T) c.511-31A>T (n.511-31A>T) c.850-31A>T (n.850-31A>T) | |
X | g.108580652A>G | CA2694412624 | COL4A5 | c.835-30A>G (n.835-30A>G) c.511-30A>G (n.511-30A>G) c.850-30A>G (n.850-30A>G) | gnomAD v4 |
X | g.108580653C= | CA2450683061 | COL4A5 | c.835-29C= (n.835-29C=) c.511-29C= (n.511-29C=) c.850-29C= (n.850-29C=) | |
X | g.108580653C>T | CA2450683062 | COL4A5 | c.835-29C>T (n.835-29C>T) c.511-29C>T (n.511-29C>T) c.850-29C>T (n.850-29C>T) | dbSNP |
X | g.108580654C= | CA2450683063 | COL4A5 | c.835-28C= (n.835-28C=) c.511-28C= (n.511-28C=) c.850-28C= (n.850-28C=) | |
X | g.108580654C>G | CA10488585 | COL4A5 | c.835-28C>G (n.835-28C>G) c.511-28C>G (n.511-28C>G) c.850-28C>G (n.850-28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580655A= | CA2450683064 | COL4A5 | c.835-27A= (n.835-27A=) c.511-27A= (n.511-27A=) c.850-27A= (n.850-27A=) | |
X | g.108580655A>G | CA10488586 | COL4A5 | c.835-27A>G (n.835-27A>G) c.511-27A>G (n.511-27A>G) c.850-27A>G (n.850-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580656T>C | CA643750287 | COL4A5 | c.835-26T>C (n.835-26T>C) c.511-26T>C (n.511-26T>C) c.850-26T>C (n.850-26T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580656T= | CA2450683065 | COL4A5 | c.835-26T= (n.835-26T=) c.511-26T= (n.511-26T=) c.850-26T= (n.850-26T=) | |
X | g.108580658G>A | CA643750288 | COL4A5 | c.835-24G>A (n.835-24G>A) c.511-24G>A (n.511-24G>A) c.850-24G>A (n.850-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580658G= | CA2450683066 | COL4A5 | c.835-24G= (n.835-24G=) c.511-24G= (n.511-24G=) c.850-24G= (n.850-24G=) | |
X | g.108580660G>A | CA2694412633 | COL4A5 | c.835-22G>A (n.835-22G>A) c.511-22G>A (n.511-22G>A) c.850-22G>A (n.850-22G>A) | gnomAD v4 |
X | g.108580663A>C | CA2694412634 | COL4A5 | c.835-19A>C (n.835-19A>C) c.511-19A>C (n.511-19A>C) c.850-19A>C (n.850-19A>C) | gnomAD v4 |
X | g.108580664C>A | CA2450683068 | COL4A5 | c.835-18C>A (n.835-18C>A) c.511-18C>A (n.511-18C>A) c.850-18C>A (n.850-18C>A) | dbSNP |
X | g.108580664C= | CA2450683067 | COL4A5 | c.835-18C= (n.835-18C=) c.511-18C= (n.511-18C=) c.850-18C= (n.850-18C=) | |
X | g.108580664C>T | CA10488587 | COL4A5 | c.835-18C>T (n.835-18C>T) c.511-18C>T (n.511-18C>T) c.850-18C>T (n.850-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580668T>C | CA10488588 | COL4A5 | c.835-14T>C (n.835-14T>C) c.511-14T>C (n.511-14T>C) c.850-14T>C (n.850-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580668T= | CA2450683069 | COL4A5 | c.835-14T= (n.835-14T=) c.511-14T= (n.511-14T=) c.850-14T= (n.850-14T=) | |
X | g.108580671T>C | CA643750289 | COL4A5 | c.835-11T>C (n.835-11T>C) c.511-11T>C (n.511-11T>C) c.850-11T>C (n.850-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108580671T= | CA2450683070 | COL4A5 | c.835-11T= (n.835-11T=) c.511-11T= (n.511-11T=) c.850-11T= (n.850-11T=) | |
X | g.108580673T>A | CA2580100193 | COL4A5 | c.835-9T>A (n.835-9T>A) c.511-9T>A (n.511-9T>A) c.850-9T>A (n.850-9T>A) | ClinVar |
X | g.108580673T>C | CA869793948 | COL4A5 | c.835-9T>C (n.835-9T>C) c.511-9T>C (n.511-9T>C) c.850-9T>C (n.850-9T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108580673T= | CA2450683071 | COL4A5 | c.835-9T= (n.835-9T=) c.511-9T= (n.511-9T=) c.850-9T= (n.850-9T=) | |
X | g.108580674G>A | CA2572274155 | COL4A5 | c.835-8G>A (n.835-8G>A) c.511-8G>A (n.511-8G>A) c.850-8G>A (n.850-8G>A) | |
X | g.108580674G>T | CA2580100194 | COL4A5 | c.835-8G>T (n.835-8G>T) c.511-8G>T (n.511-8G>T) c.850-8G>T (n.850-8G>T) | ClinVar |
X | g.108580675T>C | CA2450683073 | COL4A5 | c.835-7T>C (n.835-7T>C) c.511-7T>C (n.511-7T>C) c.850-7T>C (n.850-7T>C) | dbSNP |
X | g.108580675T>G | CA2694412640 | COL4A5 | c.835-7T>G (n.835-7T>G) c.511-7T>G (n.511-7T>G) c.850-7T>G (n.850-7T>G) | gnomAD v4 |
X | g.108580675T= | CA2450683072 | COL4A5 | c.835-7T= (n.835-7T=) c.511-7T= (n.511-7T=) c.850-7T= (n.850-7T=) | |
X | g.108580676G>T | CA2694412642 | COL4A5 | c.835-6G>T (n.835-6G>T) c.511-6G>T (n.511-6G>T) c.850-6G>T (n.850-6G>T) | gnomAD v4 |
X | g.108580677T>G | CA2739273685 | COL4A5 | c.835-5T>G (n.835-5T>G) c.511-5T>G (n.511-5T>G) c.850-5T>G (n.850-5T>G) | ClinVar |
X | g.108580678A= | CA2450683074 | COL4A5 | c.835-4A= (n.835-4A=) c.511-4A= (n.511-4A=) c.850-4A= (n.850-4A=) | |
X | g.108580678A>G | CA869793951 | COL4A5 | c.835-4A>G (n.835-4A>G) c.511-4A>G (n.511-4A>G) c.850-4A>G (n.850-4A>G) | dbSNP gnomAD v4 |
X | g.108580679C>T | CA2694412645 | COL4A5 | c.835-3C>T (n.835-3C>T) c.511-3C>T (n.511-3C>T) c.850-3C>T (n.850-3C>T) | gnomAD v4 |
X | g.108580680A= | CA2450683075 | COL4A5 | c.835-2A= (n.835-2A=) c.511-2A= (n.511-2A=) c.850-2A= (n.850-2A=) | |
X | g.108580680A>C | CA413925972 | COL4A5 | c.835-2A>C (n.835-2A>C) c.511-2A>C (n.511-2A>C) c.850-2A>C (n.850-2A>C) | |
X | g.108580680A>G | CA413925978 | COL4A5 | c.835-2A>G (n.835-2A>G) c.511-2A>G (n.511-2A>G) c.850-2A>G (n.850-2A>G) | ClinVar dbSNP |
X | g.108580680A>T | CA413925975 | COL4A5 | c.835-2A>T (n.835-2A>T) c.511-2A>T (n.511-2A>T) c.850-2A>T (n.850-2A>T) | |
X | g.108580681G>A | CA413925981 | COL4A5 | c.835-1G>A (n.835-1G>A) c.511-1G>A (n.511-1G>A) c.850-1G>A (n.850-1G>A) | |
X | g.108580681G>C | CA413925985 | COL4A5 | c.835-1G>C (n.835-1G>C) c.511-1G>C (n.511-1G>C) c.850-1G>C (n.850-1G>C) | ClinVar |
X | g.108580681G>T | CA413925995 | COL4A5 | c.835-1G>T (n.835-1G>T) c.511-1G>T (n.511-1G>T) c.850-1G>T (n.850-1G>T) | |
X | g.108580682G>A | CA413925999 | COL4A5 | c.835G>A (p.Gly279Ser) c.511G>A (p.Gly171Ser) c.850G>A (p.Gly284Ser) | gnomAD v4 |
X | g.108580682G>C | CA10488589 | COL4A5 | c.835G>C (p.Gly279Arg) c.511G>C (p.Gly171Arg) c.850G>C (p.Gly284Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.108580682G= | CA2450683076 | COL4A5 | c.835G= (p.Gly279=) c.511G= (p.Gly171=) c.850G= (p.Gly284=) | |
X | g.108580682G>T | CA413926010 | COL4A5 | c.835G>T (p.Gly279Cys) c.511G>T (p.Gly171Cys) c.850G>T (p.Gly284Cys) | COSMIC COSMIC |
X | g.108580683G>A | CA413926014 | COL4A5 | c.836G>A (p.Gly279Asp) c.512G>A (p.Gly171Asp) c.851G>A (p.Gly284Asp) | |
X | g.108580683G>C | CA10488590 | COL4A5 | c.836G>C (p.Gly279Ala) c.512G>C (p.Gly171Ala) c.851G>C (p.Gly284Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108580683G= | CA2450683077 | COL4A5 | c.836G= (p.Gly279=) c.512G= (p.Gly171=) c.851G= (p.Gly284=) | |
X | g.108580683G>T | CA413926020 | COL4A5 | c.836G>T (p.Gly279Val) c.512G>T (p.Gly171Val) c.851G>T (p.Gly284Val) | dbSNP |
X | g.108580684T>A | CA517991881 | COL4A5 | c.837T>A (p.Gly279=) c.513T>A (p.Gly171=) c.852T>A (p.Gly284=) | |
X | g.108580684T>C | CA517991880 | COL4A5 | c.837T>C (p.Gly279=) c.513T>C (p.Gly171=) c.852T>C (p.Gly284=) | |
X | g.108580684T>G | CA517991879 | COL4A5 | c.837T>G (p.Gly279=) c.513T>G (p.Gly171=) c.852T>G (p.Gly284=) | |
X | g.108580685C>A | CA413926023 | COL4A5 | c.838C>A (p.Pro280Thr) c.514C>A (p.Pro172Thr) c.853C>A (p.Pro285Thr) | |
X | g.108580685C>G | CA413926032 | COL4A5 | c.838C>G (p.Pro280Ala) c.514C>G (p.Pro172Ala) c.853C>G (p.Pro285Ala) | gnomAD v4 |
X | g.108580685C>T | CA413926034 | COL4A5 | c.838C>T (p.Pro280Ser) c.514C>T (p.Pro172Ser) c.853C>T (p.Pro285Ser) | |
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 |