Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108575850dup | CA643749767 | COL4A5 | c.547-60dup (n.547-60dup) c.223-60dup (n.223-60dup) c.562-60dup (n.562-60dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575850del | CA2694411392 | COL4A5 | c.547-60del (n.547-60del) c.223-60del (n.223-60del) c.562-60del (n.562-60del) | gnomAD v4 |
X | g.108575846_108575853delinsAAAAATAC | CA2450681431 | COL4A5 | c.547-64_547-57delinsAAAAATAC (n.547-64_547-57delinsAAAAATAC) c.223-64_223-57delinsAAAAATAC (n.223-64_223-57delinsAAAAATAC) c.562-64_562-57delinsAAAAATAC (n.562-64_562-57delinsAAAAATAC) | |
X | g.108575849_108575855del | CA869820271 | COL4A5 | c.547-61_547-55del (n.547-61_547-55del) c.223-61_223-55del (n.223-61_223-55del) c.562-61_562-55del (n.562-61_562-55del) | dbSNP |
X | g.108575850_108575852del | CA2694411394 | COL4A5 | c.547-60_547-58del (n.547-60_547-58del) c.223-60_223-58del (n.223-60_223-58del) c.562-60_562-58del (n.562-60_562-58del) | gnomAD v4 |
X | g.108575851T>C | CA869820272 | COL4A5 | c.547-59T>C (n.547-59T>C) c.223-59T>C (n.223-59T>C) c.562-59T>C (n.562-59T>C) | dbSNP |
X | g.108575851T= | CA2450681432 | COL4A5 | c.547-59T= (n.547-59T=) c.223-59T= (n.223-59T=) c.562-59T= (n.562-59T=) | |
X | g.108575853C>T | CA2694411395 | COL4A5 | c.547-57C>T (n.547-57C>T) c.223-57C>T (n.223-57C>T) c.562-57C>T (n.562-57C>T) | gnomAD v4 |
X | g.108575854A= | CA2450681433 | COL4A5 | c.547-56A= (n.547-56A=) c.223-56A= (n.223-56A=) c.562-56A= (n.562-56A=) | |
X | g.108575854A>C | CA2450681434 | COL4A5 | c.547-56A>C (n.547-56A>C) c.223-56A>C (n.223-56A>C) c.562-56A>C (n.562-56A>C) | dbSNP gnomAD v4 |
X | g.108575855A= | CA2450681435 | COL4A5 | c.547-55A= (n.547-55A=) c.223-55A= (n.223-55A=) c.562-55A= (n.562-55A=) | |
X | g.108575855A>G | CA869820273 | COL4A5 | c.547-55A>G (n.547-55A>G) c.223-55A>G (n.223-55A>G) c.562-55A>G (n.562-55A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575856T>C | CA2694411397 | COL4A5 | c.547-54T>C (n.547-54T>C) c.223-54T>C (n.223-54T>C) c.562-54T>C (n.562-54T>C) | gnomAD v4 |
X | g.108575856_108575861del | CA2694411396 | COL4A5 | c.547-54_547-49del (n.547-54_547-49del) c.223-54_223-49del (n.223-54_223-49del) c.562-54_562-49del (n.562-54_562-49del) | gnomAD v4 |
X | g.108575857A>G | CA2694411398 | COL4A5 | c.547-53A>G (n.547-53A>G) c.223-53A>G (n.223-53A>G) c.562-53A>G (n.562-53A>G) | dbSNP gnomAD v4 |
X | g.108575858A>G | CA2579675896 | COL4A5 | c.547-52A>G (n.547-52A>G) c.223-52A>G (n.223-52A>G) c.562-52A>G (n.562-52A>G) | |
X | g.108575858_108575859delinsAG | CA2450681436 | COL4A5 | c.547-52_547-51delinsAG (n.547-52_547-51delinsAG) c.223-52_223-51delinsAG (n.223-52_223-51delinsAG) c.562-52_562-51delinsAG (n.562-52_562-51delinsAG) | |
X | g.108575859G>A | CA2450681438 | COL4A5 | c.547-51G>A (n.547-51G>A) c.223-51G>A (n.223-51G>A) c.562-51G>A (n.562-51G>A) | dbSNP gnomAD v4 |
X | g.108575859G= | CA2450681437 | COL4A5 | c.547-51G= (n.547-51G=) c.223-51G= (n.223-51G=) c.562-51G= (n.562-51G=) | |
X | g.108575862del | CA869820274 | COL4A5 | c.547-48del (n.547-48del) c.223-48del (n.223-48del) c.562-48del (n.562-48del) | dbSNP |
X | g.108575860G>A | CA2694411400 | COL4A5 | c.547-50G>A (n.547-50G>A) c.223-50G>A (n.223-50G>A) c.562-50G>A (n.562-50G>A) | gnomAD v4 |
X | g.108575860G= | CA2450681439 | COL4A5 | c.547-50G= (n.547-50G=) c.223-50G= (n.223-50G=) c.562-50G= (n.562-50G=) | |
X | g.108575860G>T | CA2450681440 | COL4A5 | c.547-50G>T (n.547-50G>T) c.223-50G>T (n.223-50G>T) c.562-50G>T (n.562-50G>T) | dbSNP gnomAD v4 |
X | g.108575861G>A | CA10488491 | COL4A5 | c.547-49G>A (n.547-49G>A) c.223-49G>A (n.223-49G>A) c.562-49G>A (n.562-49G>A) | dbSNP ExAC |
X | g.108575861G= | CA2450681441 | COL4A5 | c.547-49G= (n.547-49G=) c.223-49G= (n.223-49G=) c.562-49G= (n.562-49G=) | |
X | g.108575861G>T | CA2579675897 | COL4A5 | c.547-49G>T (n.547-49G>T) c.223-49G>T (n.223-49G>T) c.562-49G>T (n.562-49G>T) | |
X | g.108575862G>C | CA10488492 | COL4A5 | c.547-48G>C (n.547-48G>C) c.223-48G>C (n.223-48G>C) c.562-48G>C (n.562-48G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575862G= | CA2450681442 | COL4A5 | c.547-48G= (n.547-48G=) c.223-48G= (n.223-48G=) c.562-48G= (n.562-48G=) | |
X | g.108575862G>T | CA643749768 | COL4A5 | c.547-48G>T (n.547-48G>T) c.223-48G>T (n.223-48G>T) c.562-48G>T (n.562-48G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575863C= | CA2450681443 | COL4A5 | c.547-47C= (n.547-47C=) c.223-47C= (n.223-47C=) c.562-47C= (n.562-47C=) | |
X | g.108575863C>G | CA2694411401 | COL4A5 | c.547-47C>G (n.547-47C>G) c.223-47C>G (n.223-47C>G) c.562-47C>G (n.562-47C>G) | gnomAD v4 |
X | g.108575863C>T | CA334179874 | COL4A5 | c.547-47C>T (n.547-47C>T) c.223-47C>T (n.223-47C>T) c.562-47C>T (n.562-47C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575863_108575867delinsCTTGT | CA2450681444 | COL4A5 | c.547-47_547-43delinsCTTGT (n.547-47_547-43delinsCTTGT) c.223-47_223-43delinsCTTGT (n.223-47_223-43delinsCTTGT) c.562-47_562-43delinsCTTGT (n.562-47_562-43delinsCTTGT) | |
X | g.108575863_108575864insCCCTTA | CA2694411402 | COL4A5 | c.547-47_547-46insCCCTTA (n.547-47_547-46insCCCTTA) c.223-47_223-46insCCCTTA (n.223-47_223-46insCCCTTA) c.562-47_562-46insCCCTTA (n.562-47_562-46insCCCTTA) | gnomAD v4 |
X | g.108575866_108575869del | CA643749769 | COL4A5 | c.547-44_547-41del (n.547-44_547-41del) c.223-44_223-41del (n.223-44_223-41del) c.562-44_562-41del (n.562-44_562-41del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575865T>C | CA2694411403 | COL4A5 | c.547-45T>C (n.547-45T>C) c.223-45T>C (n.223-45T>C) c.562-45T>C (n.562-45T>C) | gnomAD v4 |
X | g.108575865T>G | CA2694411404 | COL4A5 | c.547-45T>G (n.547-45T>G) c.223-45T>G (n.223-45T>G) c.562-45T>G (n.562-45T>G) | gnomAD v4 |
X | g.108575865T= | CA2450681445 | COL4A5 | c.547-45T= (n.547-45T=) c.223-45T= (n.223-45T=) c.562-45T= (n.562-45T=) | |
X | g.108575866G= | CA2450681446 | COL4A5 | c.547-44G= (n.547-44G=) c.223-44G= (n.223-44G=) c.562-44G= (n.562-44G=) | |
X | g.108575866G>T | CA2579675898 | COL4A5 | c.547-44G>T (n.547-44G>T) c.223-44G>T (n.223-44G>T) c.562-44G>T (n.562-44G>T) | |
X | g.108575866dup | CA10488493 | COL4A5 | c.547-44dup (n.547-44dup) c.223-44dup (n.223-44dup) c.562-44dup (n.562-44dup) | dbSNP ExAC gnomAD v2 |
X | g.108575866_108575867insGT | CA10488495 | COL4A5 | c.547-44_547-43insGT (n.547-44_547-43insGT) c.223-44_223-43insGT (n.223-44_223-43insGT) c.562-44_562-43insGT (n.562-44_562-43insGT) | dbSNP ExAC |
X | g.108575866_108575867insGTT | CA10488494 | COL4A5 | c.547-44_547-43insGTT (n.547-44_547-43insGTT) c.223-44_223-43insGTT (n.223-44_223-43insGTT) c.562-44_562-43insGTT (n.562-44_562-43insGTT) | dbSNP ExAC gnomAD v2 |
X | g.108575867T>C | CA2694411406 | COL4A5 | c.547-43T>C (n.547-43T>C) c.223-43T>C (n.223-43T>C) c.562-43T>C (n.562-43T>C) | gnomAD v4 |
X | g.108575867T>G | CA10488496 | COL4A5 | c.547-43T>G (n.547-43T>G) c.223-43T>G (n.223-43T>G) c.562-43T>G (n.562-43T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575867T= | CA2450681447 | COL4A5 | c.547-43T= (n.547-43T=) c.223-43T= (n.223-43T=) c.562-43T= (n.562-43T=) | |
X | g.108575867_108575868insATT | CA2694411405 | COL4A5 | c.547-43_547-42insATT (n.547-43_547-42insATT) c.223-43_223-42insATT (n.223-43_223-42insATT) c.562-43_562-42insATT (n.562-43_562-42insATT) | gnomAD v4 |
X | g.108575868T>C | CA2599728459 | COL4A5 | c.547-42T>C (n.547-42T>C) c.223-42T>C (n.223-42T>C) c.562-42T>C (n.562-42T>C) | gnomAD v3 gnomAD v4 |
X | g.108575868T>G | CA2694411407 | COL4A5 | c.547-42T>G (n.547-42T>G) c.223-42T>G (n.223-42T>G) c.562-42T>G (n.562-42T>G) | gnomAD v4 |
X | g.108575869T>C | CA2694411408 | COL4A5 | c.547-41T>C (n.547-41T>C) c.223-41T>C (n.223-41T>C) c.562-41T>C (n.562-41T>C) | gnomAD v4 |
X | g.108575871T>C | CA10488497 | COL4A5 | c.547-39T>C (n.547-39T>C) c.223-39T>C (n.223-39T>C) c.562-39T>C (n.562-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575871T= | CA2450681448 | COL4A5 | c.547-39T= (n.547-39T=) c.223-39T= (n.223-39T=) c.562-39T= (n.562-39T=) | |
X | g.108575871_108575872delinsTC | CA2450681449 | COL4A5 | c.547-39_547-38delinsTC (n.547-39_547-38delinsTC) c.223-39_223-38delinsTC (n.223-39_223-38delinsTC) c.562-39_562-38delinsTC (n.562-39_562-38delinsTC) | |
X | g.108575872del | CA643749770 | COL4A5 | c.547-38del (n.547-38del) c.223-38del (n.223-38del) c.562-38del (n.562-38del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575872C>A | CA2694411409 | COL4A5 | c.547-38C>A (n.547-38C>A) c.223-38C>A (n.223-38C>A) c.562-38C>A (n.562-38C>A) | gnomAD v4 |
X | g.108575872C= | CA2450681450 | COL4A5 | c.547-38C= (n.547-38C=) c.223-38C= (n.223-38C=) c.562-38C= (n.562-38C=) | |
X | g.108575872C>T | CA10488498 | COL4A5 | c.547-38C>T (n.547-38C>T) c.223-38C>T (n.223-38C>T) c.562-38C>T (n.562-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575872_108575873delinsCT | CA2450681451 | COL4A5 | c.547-38_547-37delinsCT (n.547-38_547-37delinsCT) c.223-38_223-37delinsCT (n.223-38_223-37delinsCT) c.562-38_562-37delinsCT (n.562-38_562-37delinsCT) | |
X | g.108575873T>A | CA2694411411 | COL4A5 | c.547-37T>A (n.547-37T>A) c.223-37T>A (n.223-37T>A) c.562-37T>A (n.562-37T>A) | gnomAD v4 |
X | g.108575873T>C | CA2694411412 | COL4A5 | c.547-37T>C (n.547-37T>C) c.223-37T>C (n.223-37T>C) c.562-37T>C (n.562-37T>C) | gnomAD v4 |
X | g.108575880dup | CA10488500 | COL4A5 | c.547-30dup (n.547-30dup) c.223-30dup (n.223-30dup) c.562-30dup (n.562-30dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575879_108575880dup | CA2694411410 | COL4A5 | c.547-31_547-30dup (n.547-31_547-30dup) c.223-31_223-30dup (n.223-31_223-30dup) c.562-31_562-30dup (n.562-31_562-30dup) | gnomAD v4 |
X | g.108575880del | CA10488499 | COL4A5 | c.547-30del (n.547-30del) c.223-30del (n.223-30del) c.562-30del (n.562-30del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108575874T>C | CA2579675899 | COL4A5 | c.547-36T>C (n.547-36T>C) c.223-36T>C (n.223-36T>C) c.562-36T>C (n.562-36T>C) | gnomAD v4 |
X | g.108575876T>C | CA2694411413 | COL4A5 | c.547-34T>C (n.547-34T>C) c.223-34T>C (n.223-34T>C) c.562-34T>C (n.562-34T>C) | gnomAD v4 |
X | g.108575877T>G | CA2450681452 | COL4A5 | c.547-33T>G (n.547-33T>G) c.223-33T>G (n.223-33T>G) c.562-33T>G (n.562-33T>G) | dbSNP |
X | g.108575877T= | CA2450681453 | COL4A5 | c.547-33T= (n.547-33T=) c.223-33T= (n.223-33T=) c.562-33T= (n.562-33T=) | |
X | g.108575878T>C | CA10488501 | COL4A5 | c.547-32T>C (n.547-32T>C) c.223-32T>C (n.223-32T>C) c.562-32T>C (n.562-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575878T= | CA2450681454 | COL4A5 | c.547-32T= (n.547-32T=) c.223-32T= (n.223-32T=) c.562-32T= (n.562-32T=) | |
X | g.108575879T>G | CA2694411414 | COL4A5 | c.547-31T>G (n.547-31T>G) c.223-31T>G (n.223-31T>G) c.562-31T>G (n.562-31T>G) | gnomAD v4 |
X | g.108575880T>A | CA2694411416 | COL4A5 | c.547-30T>A (n.547-30T>A) c.223-30T>A (n.223-30T>A) c.562-30T>A (n.562-30T>A) | gnomAD v4 |
X | g.108575880T>C | CA2694411417 | COL4A5 | c.547-30T>C (n.547-30T>C) c.223-30T>C (n.223-30T>C) c.562-30T>C (n.562-30T>C) | gnomAD v4 |
X | g.108575880_108575882delinsTCA | CA2450681455 | COL4A5 | c.547-30_547-28delinsTCA (n.547-30_547-28delinsTCA) c.223-30_223-28delinsTCA (n.223-30_223-28delinsTCA) c.562-30_562-28delinsTCA (n.562-30_562-28delinsTCA) | |
X | g.108575880_108575885delinsTCATCA | CA2450681456 | COL4A5 | c.547-30_547-25delinsTCATCA (n.547-30_547-25delinsTCATCA) c.223-30_223-25delinsTCATCA (n.223-30_223-25delinsTCATCA) c.562-30_562-25delinsTCATCA (n.562-30_562-25delinsTCATCA) | |
X | g.108575881del | CA2694411420 | COL4A5 | c.547-29del (n.547-29del) c.223-29del (n.223-29del) c.562-29del (n.562-29del) | gnomAD v4 |
X | g.108575881C>A | CA2579675900 | COL4A5 | c.547-29C>A (n.547-29C>A) c.223-29C>A (n.223-29C>A) c.562-29C>A (n.562-29C>A) | gnomAD v4 |
X | g.108575881C= | CA2450681457 | COL4A5 | c.547-29C= (n.547-29C=) c.223-29C= (n.223-29C=) c.562-29C= (n.562-29C=) | |
X | g.108575881C>T | CA10488504 | COL4A5 | c.547-29C>T (n.547-29C>T) c.223-29C>T (n.223-29C>T) c.562-29C>T (n.562-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575881_108575882del | CA10488503 | COL4A5 | c.547-29_547-28del (n.547-29_547-28del) c.223-29_223-28del (n.223-29_223-28del) c.562-29_562-28del (n.562-29_562-28del) | dbSNP ExAC |
X | g.108575881_108575885del | CA10488502 | COL4A5 | c.547-29_547-25del (n.547-29_547-25del) c.223-29_223-25del (n.223-29_223-25del) c.562-29_562-25del (n.562-29_562-25del) | dbSNP ExAC gnomAD v2 |
X | g.108575882A= | CA2450681458 | COL4A5 | c.547-28A= (n.547-28A=) c.223-28A= (n.223-28A=) c.562-28A= (n.562-28A=) | |
X | g.108575882A>G | CA2694411423 | COL4A5 | c.547-28A>G (n.547-28A>G) c.223-28A>G (n.223-28A>G) c.562-28A>G (n.562-28A>G) | gnomAD v4 |
X | g.108575882A>T | CA10488505 | COL4A5 | c.547-28A>T (n.547-28A>T) c.223-28A>T (n.223-28A>T) c.562-28A>T (n.562-28A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575882_108575885del | CA2538526686 | COL4A5 | c.547-28_547-25del (n.547-28_547-25del) c.223-28_223-25del (n.223-28_223-25del) c.562-28_562-25del (n.562-28_562-25del) | |
X | g.108575883T>C | CA2579675901 | COL4A5 | c.547-27T>C (n.547-27T>C) c.223-27T>C (n.223-27T>C) c.562-27T>C (n.562-27T>C) | gnomAD v4 |
X | g.108575883_108575885delinsTCA | CA2450681459 | COL4A5 | c.547-27_547-25delinsTCA (n.547-27_547-25delinsTCA) c.223-27_223-25delinsTCA (n.223-27_223-25delinsTCA) c.562-27_562-25delinsTCA (n.562-27_562-25delinsTCA) | |
X | g.108575884C>A | CA2694411429 | COL4A5 | c.547-26C>A (n.547-26C>A) c.223-26C>A (n.223-26C>A) c.562-26C>A (n.562-26C>A) | gnomAD v4 |
X | g.108575884C= | CA2450681460 | COL4A5 | c.547-26C= (n.547-26C=) c.223-26C= (n.223-26C=) c.562-26C= (n.562-26C=) | |
X | g.108575884C>T | CA10488507 | COL4A5 | c.547-26C>T (n.547-26C>T) c.223-26C>T (n.223-26C>T) c.562-26C>T (n.562-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575884_108575885del | CA10488506 | COL4A5 | c.547-26_547-25del (n.547-26_547-25del) c.223-26_223-25del (n.223-26_223-25del) c.562-26_562-25del (n.562-26_562-25del) | dbSNP ExAC |
X | g.108575885A= | CA2450681461 | COL4A5 | c.547-25A= (n.547-25A=) c.223-25A= (n.223-25A=) c.562-25A= (n.562-25A=) | |
X | g.108575885A>G | CA2694411432 | COL4A5 | c.547-25A>G (n.547-25A>G) c.223-25A>G (n.223-25A>G) c.562-25A>G (n.562-25A>G) | gnomAD v4 |
X | g.108575885A>T | CA10488508 | COL4A5 | c.547-25A>T (n.547-25A>T) c.223-25A>T (n.223-25A>T) c.562-25A>T (n.562-25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575889dup | CA2694411435 | COL4A5 | c.547-21dup (n.547-21dup) c.223-21dup (n.223-21dup) c.562-21dup (n.562-21dup) | gnomAD v4 |
X | g.108575889del | CA2694411436 | COL4A5 | c.547-21del (n.547-21del) c.223-21del (n.223-21del) c.562-21del (n.562-21del) | gnomAD v4 |
X | g.108575887T>C | CA1136177981 | COL4A5 | c.547-23T>C (n.547-23T>C) c.223-23T>C (n.223-23T>C) c.562-23T>C (n.562-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575887T= | CA2450681462 | COL4A5 | c.547-23T= (n.547-23T=) c.223-23T= (n.223-23T=) c.562-23T= (n.562-23T=) | |
X | g.108575888T>C | CA2694411437 | COL4A5 | c.547-22T>C (n.547-22T>C) c.223-22T>C (n.223-22T>C) c.562-22T>C (n.562-22T>C) | gnomAD v4 |
X | g.108575888T>G | CA2450681464 | COL4A5 | c.547-22T>G (n.547-22T>G) c.223-22T>G (n.223-22T>G) c.562-22T>G (n.562-22T>G) | dbSNP |
X | g.108575888T= | CA2450681463 | COL4A5 | c.547-22T= (n.547-22T=) c.223-22T= (n.223-22T=) c.562-22T= (n.562-22T=) | |
X | g.108575889_108575890delinsTC | CA2450681465 | COL4A5 | c.547-21_547-20delinsTC (n.547-21_547-20delinsTC) c.223-21_223-20delinsTC (n.223-21_223-20delinsTC) c.562-21_562-20delinsTC (n.562-21_562-20delinsTC) | |
X | g.108575890del | CA2450681466 | COL4A5 | c.547-20del (n.547-20del) c.223-20del (n.223-20del) c.562-20del (n.562-20del) | dbSNP |
X | g.108575890C>A | CA2694411438 | COL4A5 | c.547-20C>A (n.547-20C>A) c.223-20C>A (n.223-20C>A) c.562-20C>A (n.562-20C>A) | gnomAD v4 |
X | g.108575890C= | CA2450681467 | COL4A5 | c.547-20C= (n.547-20C=) c.223-20C= (n.223-20C=) c.562-20C= (n.562-20C=) | |
X | g.108575890C>G | CA2450681468 | COL4A5 | c.547-20C>G (n.547-20C>G) c.223-20C>G (n.223-20C>G) c.562-20C>G (n.562-20C>G) | dbSNP |
X | g.108575890C>T | CA10488509 | COL4A5 | c.547-20C>T (n.547-20C>T) c.223-20C>T (n.223-20C>T) c.562-20C>T (n.562-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575891T>C | CA2694411439 | COL4A5 | c.547-19T>C (n.547-19T>C) c.223-19T>C (n.223-19T>C) c.562-19T>C (n.562-19T>C) | gnomAD v4 |
X | g.108575892T>C | CA2694411441 | COL4A5 | c.547-18T>C (n.547-18T>C) c.223-18T>C (n.223-18T>C) c.562-18T>C (n.562-18T>C) | gnomAD v4 |
X | g.108575892T>G | CA2694411442 | COL4A5 | c.547-18T>G (n.547-18T>G) c.223-18T>G (n.223-18T>G) c.562-18T>G (n.562-18T>G) | gnomAD v4 |
X | g.108575893T>C | CA2694411443 | COL4A5 | c.547-17T>C (n.547-17T>C) c.223-17T>C (n.223-17T>C) c.562-17T>C (n.562-17T>C) | gnomAD v4 |
X | g.108575894A>G | CA2694411444 | COL4A5 | c.547-16A>G (n.547-16A>G) c.223-16A>G (n.223-16A>G) c.562-16A>G (n.562-16A>G) | gnomAD v4 |
X | g.108575894A>T | CA2579675902 | COL4A5 | c.547-16A>T (n.547-16A>T) c.223-16A>T (n.223-16A>T) c.562-16A>T (n.562-16A>T) | gnomAD v4 |
X | g.108575895C>A | CA2694411446 | COL4A5 | c.547-15C>A (n.547-15C>A) c.223-15C>A (n.223-15C>A) c.562-15C>A (n.562-15C>A) | gnomAD v4 |
X | g.108575895C= | CA2450681469 | COL4A5 | c.547-15C= (n.547-15C=) c.223-15C= (n.223-15C=) c.562-15C= (n.562-15C=) | |
X | g.108575895C>T | CA643749771 | COL4A5 | c.547-15C>T (n.547-15C>T) c.223-15C>T (n.223-15C>T) c.562-15C>T (n.562-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575896T>C | CA2694411449 | COL4A5 | c.547-14T>C (n.547-14T>C) c.223-14T>C (n.223-14T>C) c.562-14T>C (n.562-14T>C) | gnomAD v4 |
X | g.108575897C>A | CA2694411450 | COL4A5 | c.547-13C>A (n.547-13C>A) c.223-13C>A (n.223-13C>A) c.562-13C>A (n.562-13C>A) | gnomAD v4 |
X | g.108575897C>T | CA2504827004 | COL4A5 | c.547-13C>T (n.547-13C>T) c.223-13C>T (n.223-13C>T) c.562-13C>T (n.562-13C>T) | gnomAD v4 |
X | g.108575898A>G | CA2694411451 | COL4A5 | c.547-12A>G (n.547-12A>G) c.223-12A>G (n.223-12A>G) c.562-12A>G (n.562-12A>G) | gnomAD v4 |
X | g.108575898A>T | CA2553197837 | COL4A5 | c.547-12A>T (n.547-12A>T) c.223-12A>T (n.223-12A>T) c.562-12A>T (n.562-12A>T) | |
X | g.108575899C>A | CA643749772 | COL4A5 | c.547-11C>A (n.547-11C>A) c.223-11C>A (n.223-11C>A) c.562-11C>A (n.562-11C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575899C= | CA2450681470 | COL4A5 | c.547-11C= (n.547-11C=) c.223-11C= (n.223-11C=) c.562-11C= (n.562-11C=) | |
X | g.108575899C>G | CA2573055061 | COL4A5 | c.547-11C>G (n.547-11C>G) c.223-11C>G (n.223-11C>G) c.562-11C>G (n.562-11C>G) | ClinVar dbSNP |
X | g.108575899C>T | CA2694411456 | COL4A5 | c.547-11C>T (n.547-11C>T) c.223-11C>T (n.223-11C>T) c.562-11C>T (n.562-11C>T) | gnomAD v4 |
X | g.108575900T>C | CA2694411462 | COL4A5 | c.547-10T>C (n.547-10T>C) c.223-10T>C (n.223-10T>C) c.562-10T>C (n.562-10T>C) | gnomAD v4 |
X | g.108575900T>G | CA2579675903 | COL4A5 | c.547-10T>G (n.547-10T>G) c.223-10T>G (n.223-10T>G) c.562-10T>G (n.562-10T>G) | |
X | g.108575902del | CA2694411461 | COL4A5 | c.547-8del (n.547-8del) c.223-8del (n.223-8del) c.562-8del (n.562-8del) | gnomAD v4 |
X | g.108575901T>A | CA2694411463 | COL4A5 | c.547-9T>A (n.547-9T>A) c.223-9T>A (n.223-9T>A) c.562-9T>A (n.562-9T>A) | gnomAD v4 |
X | g.108575901T>C | CA2694411464 | COL4A5 | c.547-9T>C (n.547-9T>C) c.223-9T>C (n.223-9T>C) c.562-9T>C (n.562-9T>C) | gnomAD v4 |
X | g.108575903A>T | CA2694411465 | COL4A5 | c.547-7A>T (n.547-7A>T) c.223-7A>T (n.223-7A>T) c.562-7A>T (n.562-7A>T) | gnomAD v4 |
X | g.108575906del | CA2694411466 | COL4A5 | c.547-4del (n.547-4del) c.223-4del (n.223-4del) c.562-4del (n.562-4del) | gnomAD v4 |
X | g.108575906A>G | CA2694411468 | COL4A5 | c.547-4A>G (n.547-4A>G) c.223-4A>G (n.223-4A>G) c.562-4A>G (n.562-4A>G) | gnomAD v4 |
X | g.108575907C>A | CA891843909 | COL4A5 | c.547-3C>A (n.547-3C>A) c.223-3C>A (n.223-3C>A) c.562-3C>A (n.562-3C>A) | gnomAD v4 |
X | g.108575907C= | CA2450681471 | COL4A5 | c.547-3C= (n.547-3C=) c.223-3C= (n.223-3C=) c.562-3C= (n.562-3C=) | |
X | g.108575907C>G | CA2695235181 | COL4A5 | c.547-3C>G (n.547-3C>G) c.223-3C>G (n.223-3C>G) c.562-3C>G (n.562-3C>G) | |
X | g.108575907C>T | CA2450681472 | COL4A5 | c.547-3C>T (n.547-3C>T) c.223-3C>T (n.223-3C>T) c.562-3C>T (n.562-3C>T) | dbSNP gnomAD v4 |
X | g.108575908A= | CA2450681473 | COL4A5 | c.547-2A= (n.547-2A=) c.223-2A= (n.223-2A=) c.562-2A= (n.562-2A=) | |
X | g.108575908A>C | CA413921822 | COL4A5 | c.547-2A>C (n.547-2A>C) c.223-2A>C (n.223-2A>C) c.562-2A>C (n.562-2A>C) | |
X | g.108575908A>G | CA258267 | COL4A5 | c.547-2A>G (n.547-2A>G) c.223-2A>G (n.223-2A>G) c.562-2A>G (n.562-2A>G) | dbSNP gnomAD v4 |
X | g.108575908A>T | CA413921861 | COL4A5 | c.547-2A>T (n.547-2A>T) c.223-2A>T (n.223-2A>T) c.562-2A>T (n.562-2A>T) | |
X | g.108575909G>A | CA258268 | COL4A5 | c.547-1G>A (n.547-1G>A) c.223-1G>A (n.223-1G>A) c.562-1G>A (n.562-1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108575909G>C | CA413921869 | COL4A5 | c.547-1G>C (n.547-1G>C) c.223-1G>C (n.223-1G>C) c.562-1G>C (n.562-1G>C) | |
X | g.108575909G= | CA2450681474 | COL4A5 | c.547-1G= (n.547-1G=) c.223-1G= (n.223-1G=) c.562-1G= (n.562-1G=) | |
X | g.108575909G>T | CA413921868 | COL4A5 | c.547-1G>T (n.547-1G>T) c.223-1G>T (n.223-1G>T) c.562-1G>T (n.562-1G>T) | gnomAD v4 |
X | g.108575911dup | CA258269 | COL4A5 | c.548dup c.224dup c.563dup | dbSNP |
X | g.108575911del | CA2694411477 | COL4A5 | c.548del c.224del c.563del | gnomAD v4 |
X | g.108575910G>A | CA413921871 | COL4A5 | c.547G>A (p.Gly183Ser) c.223G>A (p.Gly75Ser) c.562G>A (p.Gly188Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108575910G>C | CA413921872 | COL4A5 | c.547G>C (p.Gly183Arg) c.223G>C (p.Gly75Arg) c.562G>C (p.Gly188Arg) | |
X | g.108575910G= | CA2450681475 | COL4A5 | c.547G= (p.Gly183=) c.223G= (p.Gly75=) c.562G= (p.Gly188=) | |
X | g.108575910G>T | CA413921876 | COL4A5 | c.547G>T (p.Gly183Cys) c.223G>T (p.Gly75Cys) c.562G>T (p.Gly188Cys) | gnomAD v4 |
X | g.108575910_108575911insC | CA334179897 | COL4A5 | c.547_548insC (p.Gly183AlafsTer?) c.223_224insC (p.Gly75AlafsTer?) c.562_563insC (p.Gly188AlafsTer?) | dbSNP |
X | g.108575911G>A | CA413921892 | COL4A5 | c.548G>A (p.Gly183Asp) c.224G>A (p.Gly75Asp) c.563G>A (p.Gly188Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108575911G>C | CA413921893 | COL4A5 | c.548G>C (p.Gly183Ala) c.224G>C (p.Gly75Ala) c.563G>C (p.Gly188Ala) | |
X | g.108575911G= | CA2450681476 | COL4A5 | c.548G= (p.Gly183=) c.224G= (p.Gly75=) c.563G= (p.Gly188=) | |
X | g.108575911G>T | CA258270 | COL4A5 | c.548G>T (p.Gly183Val) c.224G>T (p.Gly75Val) c.563G>T (p.Gly188Val) | dbSNP gnomAD v4 |
X | g.108575912C>A | CA517991655 | COL4A5 | c.549C>A (p.Gly183=) c.225C>A (p.Gly75=) c.564C>A (p.Gly188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575912C= | CA2450681477 | COL4A5 | c.549C= (p.Gly183=) c.225C= (p.Gly75=) c.564C= (p.Gly188=) | |
X | g.108575912C>G | CA517991656 | COL4A5 | c.549C>G (p.Gly183=) c.225C>G (p.Gly75=) c.564C>G (p.Gly188=) | |
X | g.108575912C>T | CA517991657 | COL4A5 | c.549C>T (p.Gly183=) c.225C>T (p.Gly75=) c.564C>T (p.Gly188=) | gnomAD v4 COSMIC COSMIC |
X | g.108575913dup | CA258273 | COL4A5 | c.550dup (p.Leu184ProfsTer?) c.226dup (p.Leu76ProfsTer?) c.565dup (p.Leu189ProfsTer?) | dbSNP |
X | g.108575913C>A | CA413921901 | COL4A5 | c.550C>A (p.Leu184Ile) c.226C>A (p.Leu76Ile) c.565C>A (p.Leu189Ile) | gnomAD v4 |
X | g.108575913C>G | CA413921903 | COL4A5 | c.550C>G (p.Leu184Val) c.226C>G (p.Leu76Val) c.565C>G (p.Leu189Val) | |
X | g.108575913C>T | CA517991658 | COL4A5 | c.550C>T (p.Leu184=) c.226C>T (p.Leu76=) c.565C>T (p.Leu189=) | ClinVar gnomAD v4 |
X | g.108575914T>A | CA413921910 | COL4A5 | c.551T>A (p.Leu184Gln) c.227T>A (p.Leu76Gln) c.566T>A (p.Leu189Gln) | gnomAD v4 |
X | g.108575914T>C | CA413921918 | COL4A5 | c.551T>C (p.Leu184Pro) c.227T>C (p.Leu76Pro) c.566T>C (p.Leu189Pro) | gnomAD v4 |
X | g.108575914T>G | CA413921922 | COL4A5 | c.551T>G (p.Leu184Arg) c.227T>G (p.Leu76Arg) c.566T>G (p.Leu189Arg) | gnomAD v4 |
X | g.108575915del | CA2579675904 | COL4A5 | c.552del (p.Pro185LeufsTer18) c.228del (p.Pro77LeufsTer18) c.567del (p.Pro190LeufsTer18) | |
X | g.108575915A>C | CA517991659 | COL4A5 | c.552A>C (p.Leu184=) c.228A>C (p.Leu76=) c.567A>C (p.Leu189=) | |
X | g.108575915A>G | CA517991660 | COL4A5 | c.552A>G (p.Leu184=) c.228A>G (p.Leu76=) c.567A>G (p.Leu189=) | gnomAD v4 |
X | g.108575915A>T | CA517991661 | COL4A5 | c.552A>T (p.Leu184=) c.228A>T (p.Leu76=) c.567A>T (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
X | g.108575916C>A | CA413921925 | COL4A5 | c.553C>A (p.Pro185Thr) c.229C>A (p.Pro77Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
X | g.108575916C>G | CA413921923 | COL4A5 | c.553C>G (p.Pro185Ala) c.229C>G (p.Pro77Ala) c.568C>G (p.Pro190Ala) | |
X | g.108575916C>T | CA413921924 | COL4A5 | c.553C>T (p.Pro185Ser) c.229C>T (p.Pro77Ser) c.568C>T (p.Pro190Ser) | gnomAD v4 |
X | g.108575917C>A | CA413921930 | COL4A5 | c.554C>A (p.Pro185His) c.230C>A (p.Pro77His) c.569C>A (p.Pro190His) | gnomAD v4 |
X | g.108575917C= | CA2450681478 | COL4A5 | c.554C= (p.Pro185=) c.230C= (p.Pro77=) c.569C= (p.Pro190=) | |
X | g.108575917C>G | CA413921937 | COL4A5 | c.554C>G (p.Pro185Arg) c.230C>G (p.Pro77Arg) c.569C>G (p.Pro190Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108575917C>T | CA413921942 | COL4A5 | c.554C>T (p.Pro185Leu) c.230C>T (p.Pro77Leu) c.569C>T (p.Pro190Leu) | gnomAD v4 |
X | g.108575918T>A | CA517991662 | COL4A5 | c.555T>A (p.Pro185=) c.231T>A (p.Pro77=) c.570T>A (p.Pro190=) | |
X | g.108575918T>C | CA517991663 | COL4A5 | c.555T>C (p.Pro185=) c.231T>C (p.Pro77=) c.570T>C (p.Pro190=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108575918T>G | CA517991664 | COL4A5 | c.555T>G (p.Pro185=) c.231T>G (p.Pro77=) c.570T>G (p.Pro190=) | |
X | g.108575918T= | CA2450681479 | COL4A5 | c.555T= (p.Pro185=) c.231T= (p.Pro77=) c.570T= (p.Pro190=) | |
X | g.108575919G>A | CA413921949 | COL4A5 | c.556G>A (p.Gly186Ser) c.232G>A (p.Gly78Ser) c.571G>A (p.Gly191Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108575919G>C | CA413921951 | COL4A5 | c.556G>C (p.Gly186Arg) c.232G>C (p.Gly78Arg) c.571G>C (p.Gly191Arg) | |
X | g.108575919G= | CA2450681480 | COL4A5 | c.556G= (p.Gly186=) c.232G= (p.Gly78=) c.571G= (p.Gly191=) | |
X | g.108575919G>T | CA413921953 | COL4A5 | c.556G>T (p.Gly186Cys) c.232G>T (p.Gly78Cys) c.571G>T (p.Gly191Cys) | |
X | g.108575920del | CA2579675905 | COL4A5 | c.557del (p.Gly186ValfsTer17) c.233del (p.Gly78ValfsTer17) c.572del (p.Gly191ValfsTer17) | gnomAD v4 |
X | g.108575920G>A | CA413921954 | COL4A5 | c.557G>A (p.Gly186Asp) c.233G>A (p.Gly78Asp) c.572G>A (p.Gly191Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108575920G>C | CA413921956 | COL4A5 | c.557G>C (p.Gly186Ala) c.233G>C (p.Gly78Ala) c.572G>C (p.Gly191Ala) | |
X | g.108575920G>T | CA413921960 | COL4A5 | c.557G>T (p.Gly186Val) c.233G>T (p.Gly78Val) c.572G>T (p.Gly191Val) | gnomAD v4 |
X | g.108575921T>A | CA517991665 | COL4A5 | c.558T>A (p.Gly186=) c.234T>A (p.Gly78=) c.573T>A (p.Gly191=) | |
X | g.108575921T>C | CA517991666 | COL4A5 | c.558T>C (p.Gly186=) c.234T>C (p.Gly78=) c.573T>C (p.Gly191=) | gnomAD v4 |
X | g.108575921T>G | CA517991667 | COL4A5 | c.558T>G (p.Gly186=) c.234T>G (p.Gly78=) c.573T>G (p.Gly191=) | gnomAD v4 |
X | g.108575921T= | CA2450681481 | COL4A5 | c.558T= (p.Gly186=) c.234T= (p.Gly78=) c.573T= (p.Gly191=) | |
X | g.108575922C>A | CA413921964 | COL4A5 | c.559C>A (p.Pro187Thr) c.235C>A (p.Pro79Thr) c.574C>A (p.Pro192Thr) | gnomAD v3 gnomAD v4 |
X | g.108575922C>G | CA413921966 | COL4A5 | c.559C>G (p.Pro187Ala) c.235C>G (p.Pro79Ala) c.574C>G (p.Pro192Ala) | |
X | g.108575922C>T | CA413921968 | COL4A5 | c.559C>T (p.Pro187Ser) c.235C>T (p.Pro79Ser) c.574C>T (p.Pro192Ser) | |
X | g.108575923_108575924dup | CA891843910 | COL4A5 | c.560_561dup (p.Thr188ProfsTer16) c.236_237dup (p.Thr80ProfsTer16) c.575_576dup (p.Thr193ProfsTer16) | |
X | g.108575924del | CA2694411544 | COL4A5 | c.561del (p.Thr188LeufsTer15) c.237del (p.Thr80LeufsTer15) c.576del (p.Thr193LeufsTer15) | gnomAD v4 |
X | g.108575923C>A | CA413921995 | COL4A5 | c.560C>A (p.Pro187His) c.236C>A (p.Pro79His) c.575C>A (p.Pro192His) | gnomAD v4 |
X | g.108575923C>G | CA413921988 | COL4A5 | c.560C>G (p.Pro187Arg) c.236C>G (p.Pro79Arg) c.575C>G (p.Pro192Arg) | |
X | g.108575923C>T | CA413921970 | COL4A5 | c.560C>T (p.Pro187Leu) c.236C>T (p.Pro79Leu) c.575C>T (p.Pro192Leu) | gnomAD v4 |
X | g.108575927_108575961del | CA2580100156 | COL4A5 | c.564_598del (p.Gly189ArgfsTer15) c.240_274del (p.Gly81ArgfsTer15) c.579_613del (p.Gly194ArgfsTer15) | ClinVar |
X | g.108575924C>A | CA517991670 | COL4A5 | c.561C>A (p.Pro187=) c.237C>A (p.Pro79=) c.576C>A (p.Pro192=) | gnomAD v4 |
X | g.108575924C>G | CA517991668 | COL4A5 | c.561C>G (p.Pro187=) c.237C>G (p.Pro79=) c.576C>G (p.Pro192=) | |
X | g.108575924C>T | CA517991669 | COL4A5 | c.561C>T (p.Pro187=) c.237C>T (p.Pro79=) c.576C>T (p.Pro192=) | |
X | g.108575925A>C | CA413922000 | COL4A5 | c.562A>C (p.Thr188Pro) c.238A>C (p.Thr80Pro) c.577A>C (p.Thr193Pro) | |
X | g.108575925A>G | CA413922005 | COL4A5 | c.562A>G (p.Thr188Ala) c.238A>G (p.Thr80Ala) c.577A>G (p.Thr193Ala) | |
X | g.108575925A>T | CA413922002 | COL4A5 | c.562A>T (p.Thr188Ser) c.238A>T (p.Thr80Ser) c.577A>T (p.Thr193Ser) | gnomAD v4 |
X | g.108575926C>A | CA413922008 | COL4A5 | c.563C>A (p.Thr188Asn) c.239C>A (p.Thr80Asn) c.578C>A (p.Thr193Asn) | gnomAD v4 |
X | g.108575926C>G | CA413922015 | COL4A5 | c.563C>G (p.Thr188Ser) c.239C>G (p.Thr80Ser) c.578C>G (p.Thr193Ser) | |
X | g.108575926C>T | CA413922025 | COL4A5 | c.563C>T (p.Thr188Ile) c.239C>T (p.Thr80Ile) c.578C>T (p.Thr193Ile) | gnomAD v4 |
X | g.108575927T>A | CA517991671 | COL4A5 | c.564T>A (p.Thr188=) c.240T>A (p.Thr80=) c.579T>A (p.Thr193=) | gnomAD v4 |
X | g.108575927T>C | CA517991672 | COL4A5 | c.564T>C (p.Thr188=) c.240T>C (p.Thr80=) c.579T>C (p.Thr193=) | gnomAD v4 |
X | g.108575927T>G | CA517991673 | COL4A5 | c.564T>G (p.Thr188=) c.240T>G (p.Thr80=) c.579T>G (p.Thr193=) | |
X | g.108575928G>A | CA413922029 | COL4A5 | c.565G>A (p.Gly189Ser) c.241G>A (p.Gly81Ser) c.580G>A (p.Gly194Ser) | |
X | g.108575928G>C | CA413922050 | COL4A5 | c.565G>C (p.Gly189Arg) c.241G>C (p.Gly81Arg) c.580G>C (p.Gly194Arg) | |
X | g.108575928G>T | CA413922051 | COL4A5 | c.565G>T (p.Gly189Cys) c.241G>T (p.Gly81Cys) c.580G>T (p.Gly194Cys) | gnomAD v4 |
X | g.108575929del | CA2694411558 | COL4A5 | c.566del (p.Gly189ValfsTer14) c.242del (p.Gly81ValfsTer14) c.581del (p.Gly194ValfsTer14) | gnomAD v4 |
X | g.108575929G>A | CA413922053 | COL4A5 | c.566G>A (p.Gly189Asp) c.242G>A (p.Gly81Asp) c.581G>A (p.Gly194Asp) | gnomAD v4 |
X | g.108575929G>C | CA413922055 | COL4A5 | c.566G>C (p.Gly189Ala) c.242G>C (p.Gly81Ala) c.581G>C (p.Gly194Ala) | |
X | g.108575929G>T | CA413922057 | COL4A5 | c.566G>T (p.Gly189Val) c.242G>T (p.Gly81Val) c.581G>T (p.Gly194Val) | gnomAD v4 |
X | g.108575929_108575931delinsGTA | CA2450681482 | COL4A5 | c.566_568delinsGTA (p.Gly189=) c.242_244delinsGTA (p.Gly81=) c.581_583delinsGTA (p.Gly194=) | |
X | g.108575930T>A | CA517991676 | COL4A5 | c.567T>A (p.Gly189=) c.243T>A (p.Gly81=) c.582T>A (p.Gly194=) | |
X | g.108575930T>C | CA517991674 | COL4A5 | c.567T>C (p.Gly189=) c.243T>C (p.Gly81=) c.582T>C (p.Gly194=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575930T>G | CA517991675 | COL4A5 | c.567T>G (p.Gly189=) c.243T>G (p.Gly81=) c.582T>G (p.Gly194=) | |
X | g.108575930T= | CA2450681483 | COL4A5 | c.567T= (p.Gly189=) c.243T= (p.Gly81=) c.582T= (p.Gly194=) | |
X | g.108575930dup | CA2695235182 | COL4A5 | c.567dup (p.Ile190TyrfsTer26) c.243dup (p.Ile82TyrfsTer26) c.582dup (p.Ile195TyrfsTer26) | |
X | g.108575932_108575933del | CA658799834 | COL4A5 | c.569_570del (p.Ile190ThrfsTer25) c.245_246del (p.Ile82ThrfsTer25) c.584_585del (p.Ile195ThrfsTer25) | ClinVar dbSNP |
X | g.108575931A= | CA2450681484 | COL4A5 | c.568A= (p.Ile190=) c.244A= (p.Ile82=) c.583A= (p.Ile195=) | |
X | g.108575931A>C | CA413922061 | COL4A5 | c.568A>C (p.Ile190Leu) c.244A>C (p.Ile82Leu) c.583A>C (p.Ile195Leu) | |
X | g.108575931A>G | CA10488510 | COL4A5 | c.568A>G (p.Ile190Val) c.244A>G (p.Ile82Val) c.583A>G (p.Ile195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575931A>T | CA413922074 | COL4A5 | c.568A>T (p.Ile190Leu) c.244A>T (p.Ile82Leu) c.583A>T (p.Ile195Leu) | |
X | g.108575932T>A | CA413922107 | COL4A5 | c.569T>A (p.Ile190Lys) c.245T>A (p.Ile82Lys) c.584T>A (p.Ile195Lys) | |
X | g.108575932T>C | CA413922090 | COL4A5 | c.569T>C (p.Ile190Thr) c.245T>C (p.Ile82Thr) c.584T>C (p.Ile195Thr) | |
X | g.108575932T>G | CA413922102 | COL4A5 | c.569T>G (p.Ile190Arg) c.245T>G (p.Ile82Arg) c.584T>G (p.Ile195Arg) | |
X | g.108575933A>C | CA517991677 | COL4A5 | c.570A>C (p.Ile190=) c.246A>C (p.Ile82=) c.585A>C (p.Ile195=) | |
X | g.108575933A>G | CA413922121 | COL4A5 | c.570A>G (p.Ile190Met) c.246A>G (p.Ile82Met) c.585A>G (p.Ile195Met) | gnomAD v4 |
X | g.108575933A>T | CA517991678 | COL4A5 | c.570A>T (p.Ile190=) c.246A>T (p.Ile82=) c.585A>T (p.Ile195=) | ClinVar dbSNP |
X | g.108575934C>A | CA413922133 | COL4A5 | c.571C>A (p.Pro191Thr) c.247C>A (p.Pro83Thr) c.586C>A (p.Pro196Thr) | |
X | g.108575934C>G | CA413922139 | COL4A5 | c.571C>G (p.Pro191Ala) c.247C>G (p.Pro83Ala) c.586C>G (p.Pro196Ala) | |
X | g.108575934C>T | CA413922143 | COL4A5 | c.571C>T (p.Pro191Ser) c.247C>T (p.Pro83Ser) c.586C>T (p.Pro196Ser) | gnomAD v4 |
X | g.108575934_108575946delinsCCAGGGCCAATTG | CA2450681485 | COL4A5 | c.571_583delinsCCAGGGCCAATTG (p.Pro191=) c.247_259delinsCCAGGGCCAATTG (p.Pro83=) c.586_598delinsCCAGGGCCAATTG (p.Pro196=) | |
X | g.108575935C>A | CA334179902 | COL4A5 | c.572C>A (p.Pro191Gln) c.248C>A (p.Pro83Gln) c.587C>A (p.Pro196Gln) | dbSNP gnomAD v4 |
X | g.108575935C= | CA2450681486 | COL4A5 | c.572C= (p.Pro191=) c.248C= (p.Pro83=) c.587C= (p.Pro196=) | |
X | g.108575935C>G | CA413922155 | COL4A5 | c.572C>G (p.Pro191Arg) c.248C>G (p.Pro83Arg) c.587C>G (p.Pro196Arg) | |
X | g.108575935C>T | CA413922160 | COL4A5 | c.572C>T (p.Pro191Leu) c.248C>T (p.Pro83Leu) c.587C>T (p.Pro196Leu) | gnomAD v4 |
X | g.108575935_108575946del | CA891863003 | COL4A5 | c.572_583del (p.Pro191_Gly195delinsArg) c.248_259del (p.Pro83_Gly87delinsArg) c.587_598del (p.Pro196_Gly200delinsArg) | ClinVar dbSNP |
X | g.108575936A>C | CA517991679 | COL4A5 | c.573A>C (p.Pro191=) c.249A>C (p.Pro83=) c.588A>C (p.Pro196=) | |
X | g.108575936A>G | CA517991680 | COL4A5 | c.573A>G (p.Pro191=) c.249A>G (p.Pro83=) c.588A>G (p.Pro196=) | |
X | g.108575936A>T | CA517991681 | COL4A5 | c.573A>T (p.Pro191=) c.249A>T (p.Pro83=) c.588A>T (p.Pro196=) | |
X | g.108575936_108575937dup | CA261043 | COL4A5 | c.573_574dup (p.Gly192GlufsTer12) c.249_250dup (p.Gly84GlufsTer12) c.588_589dup (p.Gly197GlufsTer12) | dbSNP |
X | g.108575937G>A | CA258274 | COL4A5 | c.574G>A (p.Gly192Arg) c.250G>A (p.Gly84Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108575937G>C | CA413922168 | COL4A5 | c.574G>C (p.Gly192Arg) c.250G>C (p.Gly84Arg) c.589G>C (p.Gly197Arg) | |
X | g.108575937G= | CA2450681487 | COL4A5 | c.574G= (p.Gly192=) c.250G= (p.Gly84=) c.589G= (p.Gly197=) | |
X | g.108575937G>T | CA413922187 | COL4A5 | c.574G>T (p.Gly192Trp) c.250G>T (p.Gly84Trp) c.589G>T (p.Gly197Trp) | ClinVar dbSNP gnomAD v4 |
X | g.108575939dup | CA2695235183 | COL4A5 | c.576dup (p.Pro193AlafsTer23) c.252dup (p.Pro85AlafsTer23) c.591dup (p.Pro198AlafsTer23) | |
X | g.108575938G>A | CA413922225 | COL4A5 | c.575G>A (p.Gly192Glu) c.251G>A (p.Gly84Glu) c.590G>A (p.Gly197Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108575938G>C | CA413922195 | COL4A5 | c.575G>C (p.Gly192Ala) c.251G>C (p.Gly84Ala) c.590G>C (p.Gly197Ala) | |
X | g.108575938G>T | CA413922192 | COL4A5 | c.575G>T (p.Gly192Val) c.251G>T (p.Gly84Val) c.590G>T (p.Gly197Val) | gnomAD v4 |
X | g.108575939G>A | CA517991682 | COL4A5 | c.576G>A (p.Gly192=) c.252G>A (p.Gly84=) c.591G>A (p.Gly197=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575939G>C | CA517991683 | COL4A5 | c.576G>C (p.Gly192=) c.252G>C (p.Gly84=) c.591G>C (p.Gly197=) | |
X | g.108575939G= | CA2450681488 | COL4A5 | c.576G= (p.Gly192=) c.252G= (p.Gly84=) c.591G= (p.Gly197=) | |
X | g.108575939G>T | CA517991684 | COL4A5 | c.576G>T (p.Gly192=) c.252G>T (p.Gly84=) c.591G>T (p.Gly197=) | |
X | g.108575940C>A | CA413922230 | COL4A5 | c.577C>A (p.Pro193Thr) c.253C>A (p.Pro85Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
X | g.108575940C>G | CA413922235 | COL4A5 | c.577C>G (p.Pro193Ala) c.253C>G (p.Pro85Ala) c.592C>G (p.Pro198Ala) | |
X | g.108575940C>T | CA413922238 | COL4A5 | c.577C>T (p.Pro193Ser) c.253C>T (p.Pro85Ser) c.592C>T (p.Pro198Ser) | gnomAD v4 |
X | g.108575941del | CA2694411575 | COL4A5 | c.578del (p.Pro193GlnfsTer10) c.254del (p.Pro85GlnfsTer10) c.593del (p.Pro198GlnfsTer10) | gnomAD v4 |
X | g.108575941C>A | CA413922249 | COL4A5 | c.578C>A (p.Pro193Gln) c.254C>A (p.Pro85Gln) c.593C>A (p.Pro198Gln) | gnomAD v4 |
X | g.108575941C= | CA2450681489 | COL4A5 | c.578C= (p.Pro193=) c.254C= (p.Pro85=) c.593C= (p.Pro198=) | |
X | g.108575941C>G | CA413922250 | COL4A5 | c.578C>G (p.Pro193Arg) c.254C>G (p.Pro85Arg) c.593C>G (p.Pro198Arg) | |
X | g.108575941C>T | CA334179907 | COL4A5 | c.578C>T (p.Pro193Leu) c.254C>T (p.Pro85Leu) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575942A= | CA2450681490 | COL4A5 | c.579A= (p.Pro193=) c.255A= (p.Pro85=) c.594A= (p.Pro198=) | |
X | g.108575942A>C | CA517991685 | COL4A5 | c.579A>C (p.Pro193=) c.255A>C (p.Pro85=) c.594A>C (p.Pro198=) | gnomAD v4 |
X | g.108575942A>G | CA517991686 | COL4A5 | c.579A>G (p.Pro193=) c.255A>G (p.Pro85=) c.594A>G (p.Pro198=) | dbSNP |
X | g.108575942A>T | CA517991687 | COL4A5 | c.579A>T (p.Pro193=) c.255A>T (p.Pro85=) c.594A>T (p.Pro198=) | |
X | g.108575943A= | CA2450681491 | COL4A5 | c.580A= (p.Ile194=) c.256A= (p.Ile86=) c.595A= (p.Ile199=) | |
X | g.108575943A>C | CA413922256 | COL4A5 | c.580A>C (p.Ile194Leu) c.256A>C (p.Ile86Leu) c.595A>C (p.Ile199Leu) | |
X | g.108575943A>G | CA10488511 | COL4A5 | c.580A>G (p.Ile194Val) c.256A>G (p.Ile86Val) c.595A>G (p.Ile199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575943A>T | CA413922265 | COL4A5 | c.580A>T (p.Ile194Phe) c.256A>T (p.Ile86Phe) c.595A>T (p.Ile199Phe) | |
X | g.108575944T>A | CA413922270 | COL4A5 | c.581T>A (p.Ile194Asn) c.257T>A (p.Ile86Asn) c.596T>A (p.Ile199Asn) | gnomAD v4 |
X | g.108575944T>C | CA334179910 | COL4A5 | c.581T>C (p.Ile194Thr) c.257T>C (p.Ile86Thr) c.596T>C (p.Ile199Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575944T>G | CA413922279 | COL4A5 | c.581T>G (p.Ile194Ser) c.257T>G (p.Ile86Ser) c.596T>G (p.Ile199Ser) | |
X | g.108575944T= | CA2450681492 | COL4A5 | c.581T= (p.Ile194=) c.257T= (p.Ile86=) c.596T= (p.Ile199=) | |
X | g.108575945T>A | CA517991689 | COL4A5 | c.582T>A (p.Ile194=) c.258T>A (p.Ile86=) c.597T>A (p.Ile199=) | |
X | g.108575945T>C | CA517991688 | COL4A5 | c.582T>C (p.Ile194=) c.258T>C (p.Ile86=) c.597T>C (p.Ile199=) | gnomAD v4 |
X | g.108575945T>G | CA413922281 | COL4A5 | c.582T>G (p.Ile194Met) c.258T>G (p.Ile86Met) c.597T>G (p.Ile199Met) | |
X | g.108575946G>A | CA413922284 | COL4A5 | c.583G>A (p.Gly195Ser) c.259G>A (p.Gly87Ser) c.598G>A (p.Gly200Ser) | gnomAD v4 |
X | g.108575946G>C | CA413922282 | COL4A5 | c.583G>C (p.Gly195Arg) c.259G>C (p.Gly87Arg) c.598G>C (p.Gly200Arg) | |
X | g.108575946G>T | CA413922283 | COL4A5 | c.583G>T (p.Gly195Cys) c.259G>T (p.Gly87Cys) c.598G>T (p.Gly200Cys) | gnomAD v4 COSMIC COSMIC |
X | g.108575947G>A | CA258276 | COL4A5 | c.584G>A (p.Gly195Asp) c.260G>A (p.Gly87Asp) c.599G>A (p.Gly200Asp) | ClinVar dbSNP |
X | g.108575947G>C | CA413922298 | COL4A5 | c.584G>C (p.Gly195Ala) c.260G>C (p.Gly87Ala) c.599G>C (p.Gly200Ala) | gnomAD v4 |
X | g.108575947G= | CA2450681493 | COL4A5 | c.584G= (p.Gly195=) c.260G= (p.Gly87=) c.599G= (p.Gly200=) | |
X | g.108575947G>T | CA413922299 | COL4A5 | c.584G>T (p.Gly195Val) c.260G>T (p.Gly87Val) c.599G>T (p.Gly200Val) | ClinVar dbSNP COSMIC COSMIC |