Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45476378_45476395dupCA10065944COL18A1c.1366_1383dup (p.Thr461_Thr462insAlaProProProValThr)
c.826_843dup (p.Thr281_Thr282insAlaProProProValThr)
c.2071_2088dup (p.Thr696_Thr697insAlaProProProValThr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476380_45476391dupCA2392171575COL18A1c.1368_1379dup (p.Val460_Thr461insProProProVal)
c.828_839dup (p.Val280_Thr281insProProProVal)
c.2073_2084dup (p.Val695_Thr696insProProProVal)
 dbSNP
21g.45476389dupCA10065952COL18A1c.1377dup (p.Val460ArgfsTer18)
c.837dup (p.Val280ArgfsTer18)
c.2082dup (p.Val695ArgfsTer18)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476389delCA645602036COL18A1c.1377del (p.Val460SerfsTer29)
c.837del (p.Val280SerfsTer29)
c.2082del (p.Val695SerfsTer29)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476388C>ACA410514365COL18A1c.1376C>A (p.Pro459His)
c.836C>A (p.Pro279His)
c.2081C>A (p.Pro694His)
21g.45476388C=CA2392171582COL18A1c.1376C= (p.Pro459=)
c.836C= (p.Pro279=)
c.2081C= (p.Pro694=)
21g.45476388C>GCA10065955COL18A1c.1376C>G (p.Pro459Arg)
c.836C>G (p.Pro279Arg)
c.2081C>G (p.Pro694Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476388C>TCA10065954COL18A1c.1376C>T (p.Pro459Leu)
c.836C>T (p.Pro279Leu)
c.2081C>T (p.Pro694Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476388_45476389delinsTGCA2580098868COL18A1c.1376_1377delinsTG (p.Pro459Leu)
c.836_837delinsTG (p.Pro279Leu)
c.2081_2082delinsTG (p.Pro694Leu)
 ClinVar
21g.45476389C>ACA10065957COL18A1c.1377C>A (p.Pro459=)
c.837C>A (p.Pro279=)
c.2082C>A (p.Pro694=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476389C=CA2392171583COL18A1c.1377C= (p.Pro459=)
c.837C= (p.Pro279=)
c.2082C= (p.Pro694=)
21g.45476389C>GCA10065956COL18A1c.1377C>G (p.Pro459=)
c.837C>G (p.Pro279=)
c.2082C>G (p.Pro694=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476389C>TCA10065958COL18A1c.1377C>T (p.Pro459=)
c.837C>T (p.Pro279=)
c.2082C>T (p.Pro694=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476390_45476392delCA2654909368COL18A1c.1378_1380del (p.Val460del)
c.838_840del (p.Val280del)
c.2083_2085del (p.Val695del)
 gnomAD v4
21g.45476390G>ACA10065959COL18A1c.1378G>A (p.Val460Ile)
c.838G>A (p.Val280Ile)
c.2083G>A (p.Val695Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476390G>CCA410514369COL18A1c.1378G>C (p.Val460Leu)
c.838G>C (p.Val280Leu)
c.2083G>C (p.Val695Leu)
21g.45476390G=CA2392171584COL18A1c.1378G= (p.Val460=)
c.838G= (p.Val280=)
c.2083G= (p.Val695=)
21g.45476390G>TCA410514371COL18A1c.1378G>T (p.Val460Phe)
c.838G>T (p.Val280Phe)
c.2083G>T (p.Val695Phe)
21g.45476390dupCA638496979COL18A1c.1378dup (p.Val460GlyfsTer18)
c.838dup (p.Val280GlyfsTer18)
c.2083dup (p.Val695GlyfsTer18)
 dbSNP gnomAD v2 gnomAD v4
21g.45476391T>ACA10065960COL18A1c.1379T>A (p.Val460Asp)
c.839T>A (p.Val280Asp)
c.2084T>A (p.Val695Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476391T>CCA410514374COL18A1c.1379T>C (p.Val460Ala)
c.839T>C (p.Val280Ala)
c.2084T>C (p.Val695Ala)
 COSMIC
21g.45476391T>GCA410514373COL18A1c.1379T>G (p.Val460Gly)
c.839T>G (p.Val280Gly)
c.2084T>G (p.Val695Gly)
21g.45476391T=CA2392171585COL18A1c.1379T= (p.Val460=)
c.839T= (p.Val280=)
c.2084T= (p.Val695=)
21g.45476392C>ACA512709565COL18A1c.1380C>A (p.Val460=)
c.840C>A (p.Val280=)
c.2085C>A (p.Val695=)
21g.45476392C>GCA512709563COL18A1c.1380C>G (p.Val460=)
c.840C>G (p.Val280=)
c.2085C>G (p.Val695=)
21g.45476392C>TCA512709561COL18A1c.1380C>T (p.Val460=)
c.840C>T (p.Val280=)
c.2085C>T (p.Val695=)
21g.45476396_45476403dupCA2392171586COL18A1c.1384_1391dup (p.Leu465ArgfsTer27)
c.844_851dup (p.Leu285ArgfsTer27)
c.2089_2096dup (p.Leu700ArgfsTer27)
 dbSNP
21g.45476393A=CA2392171587COL18A1c.1381A= (p.Thr461=)
c.841A= (p.Thr281=)
c.2086A= (p.Thr696=)
21g.45476393A>CCA321913641COL18A1c.1381A>C (p.Thr461Pro)
c.841A>C (p.Thr281Pro)
c.2086A>C (p.Thr696Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.45476393A>GCA410514378COL18A1c.1381A>G (p.Thr461Ala)
c.841A>G (p.Thr281Ala)
c.2086A>G (p.Thr696Ala)
 dbSNP
21g.45476393A>TCA410514377COL18A1c.1381A>T (p.Thr461Ser)
c.841A>T (p.Thr281Ser)
c.2086A>T (p.Thr696Ser)
21g.45476394C>ACA410514380COL18A1c.1382C>A (p.Thr461Asn)
c.842C>A (p.Thr281Asn)
c.2087C>A (p.Thr696Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476394C=CA2392171588COL18A1c.1382C= (p.Thr461=)
c.842C= (p.Thr281=)
c.2087C= (p.Thr696=)
21g.45476394C>GCA10065961COL18A1c.1382C>G (p.Thr461Ser)
c.842C>G (p.Thr281Ser)
c.2087C>G (p.Thr696Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476394C>TCA410514381COL18A1c.1382C>T (p.Thr461Ile)
c.842C>T (p.Thr281Ile)
c.2087C>T (p.Thr696Ile)
 dbSNP
21g.45476395_45476396insGCGCCACCCCCCGTCTCCCA2573157572COL18A1c.1383_1384insGCGCCACCCCCCGTCTCC (p.Thr461_Thr462insAlaProProProValSer)
c.843_844insGCGCCACCCCCCGTCTCC (p.Thr281_Thr282insAlaProProProValSer)
c.2088_2089insGCGCCACCCCCCGTCTCC (p.Thr696_Thr697insAlaProProProValSer)
 ClinVar dbSNP
21g.45476395C>ACA512709579COL18A1c.1383C>A (p.Thr461=)
c.843C>A (p.Thr281=)
c.2088C>A (p.Thr696=)
21g.45476395C>GCA512709581COL18A1c.1383C>G (p.Thr461=)
c.843C>G (p.Thr281=)
c.2088C>G (p.Thr696=)
21g.45476395C>TCA512709577COL18A1c.1383C>T (p.Thr461=)
c.843C>T (p.Thr281=)
c.2088C>T (p.Thr696=)
21g.45476396_45476402delCA2654909370COL18A1c.1384_1390del (p.Thr462ProfsTer25)
c.844_850del (p.Thr282ProfsTer25)
c.2089_2095del (p.Thr697ProfsTer25)
 gnomAD v4
21g.45476396A=CA2392171589COL18A1c.1384A= (p.Thr462=)
c.844A= (p.Thr282=)
c.2089A= (p.Thr697=)
21g.45476396A>CCA410514382COL18A1c.1384A>C (p.Thr462Pro)
c.844A>C (p.Thr282Pro)
c.2089A>C (p.Thr697Pro)
21g.45476396A>GCA410514383COL18A1c.1384A>G (p.Thr462Ala)
c.844A>G (p.Thr282Ala)
c.2089A>G (p.Thr697Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45476396A>TCA410514384COL18A1c.1384A>T (p.Thr462Ser)
c.844A>T (p.Thr282Ser)
c.2089A>T (p.Thr697Ser)
21g.45476397C>ACA410514385COL18A1c.1385C>A (p.Thr462Lys)
c.845C>A (p.Thr282Lys)
c.2090C>A (p.Thr697Lys)
21g.45476397C=CA2392171590COL18A1c.1385C= (p.Thr462=)
c.845C= (p.Thr282=)
c.2090C= (p.Thr697=)
21g.45476397C>GCA410514386COL18A1c.1385C>G (p.Thr462Arg)
c.845C>G (p.Thr282Arg)
c.2090C>G (p.Thr697Arg)
21g.45476397C>TCA10065962COL18A1c.1385C>T (p.Thr462Met)
c.845C>T (p.Thr282Met)
c.2090C>T (p.Thr697Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476398G>ACA10065964COL18A1c.1386G>A (p.Thr462=)
c.846G>A (p.Thr282=)
c.2091G>A (p.Thr697=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476398G>CCA321913652COL18A1c.1386G>C (p.Thr462=)
c.846G>C (p.Thr282=)
c.2091G>C (p.Thr697=)
 dbSNP
21g.45476398G=CA2392171591COL18A1c.1386G= (p.Thr462=)
c.846G= (p.Thr282=)
c.2091G= (p.Thr697=)
21g.45476398G>TCA10065963COL18A1c.1386G>T (p.Thr462=)
c.846G>T (p.Thr282=)
c.2091G>T (p.Thr697=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476399C>ACA410514391COL18A1c.1387C>A (p.Pro463Thr)
c.847C>A (p.Pro283Thr)
c.2092C>A (p.Pro698Thr)
 gnomAD v4
21g.45476399C=CA2392171592COL18A1c.1387C= (p.Pro463=)
c.847C= (p.Pro283=)
c.2092C= (p.Pro698=)
21g.45476399C>GCA10065965COL18A1c.1387C>G (p.Pro463Ala)
c.847C>G (p.Pro283Ala)
c.2092C>G (p.Pro698Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476399C>TCA410514393COL18A1c.1387C>T (p.Pro463Ser)
c.847C>T (p.Pro283Ser)
c.2092C>T (p.Pro698Ser)
21g.45476400C>ACA410514394COL18A1c.1388C>A (p.Pro463Gln)
c.848C>A (p.Pro283Gln)
c.2093C>A (p.Pro698Gln)
21g.45476400C>GCA410514397COL18A1c.1388C>G (p.Pro463Arg)
c.848C>G (p.Pro283Arg)
c.2093C>G (p.Pro698Arg)
21g.45476400C>TCA410514395COL18A1c.1388C>T (p.Pro463Leu)
c.848C>T (p.Pro283Leu)
c.2093C>T (p.Pro698Leu)
21g.45476401A=CA2392171593COL18A1c.1389A= (p.Pro463=)
c.849A= (p.Pro283=)
c.2094A= (p.Pro698=)
21g.45476401A>CCA10065966COL18A1c.1389A>C (p.Pro463=)
c.849A>C (p.Pro283=)
c.2094A>C (p.Pro698=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476401A>GCA512709612COL18A1c.1389A>G (p.Pro463=)
c.849A>G (p.Pro283=)
c.2094A>G (p.Pro698=)
21g.45476401A>TCA512709610COL18A1c.1389A>T (p.Pro463=)
c.849A>T (p.Pro283=)
c.2094A>T (p.Pro698=)
21g.45476402C>ACA410514399COL18A1c.1390C>A (p.Pro464Thr)
c.850C>A (p.Pro284Thr)
c.2095C>A (p.Pro699Thr)
21g.45476402C=CA2392171594COL18A1c.1390C= (p.Pro464=)
c.850C= (p.Pro284=)
c.2095C= (p.Pro699=)
21g.45476402C>GCA410514401COL18A1c.1390C>G (p.Pro464Ala)
c.850C>G (p.Pro284Ala)
c.2095C>G (p.Pro699Ala)
21g.45476402C>TCA10065967COL18A1c.1390C>T (p.Pro464Ser)
c.850C>T (p.Pro284Ser)
c.2095C>T (p.Pro699Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476403C>ACA410514403COL18A1c.1391C>A (p.Pro464His)
c.851C>A (p.Pro284His)
c.2096C>A (p.Pro699His)
21g.45476403C=CA2392171595COL18A1c.1391C= (p.Pro464=)
c.851C= (p.Pro284=)
c.2096C= (p.Pro699=)
21g.45476403C>GCA410514404COL18A1c.1391C>G (p.Pro464Arg)
c.851C>G (p.Pro284Arg)
c.2096C>G (p.Pro699Arg)
21g.45476403C>TCA410514406COL18A1c.1391C>T (p.Pro464Leu)
c.851C>T (p.Pro284Leu)
c.2096C>T (p.Pro699Leu)
 dbSNP gnomAD v2
21g.45476404C>ACA512709626COL18A1c.1392C>A (p.Pro464=)
c.852C>A (p.Pro284=)
c.2097C>A (p.Pro699=)
 gnomAD v4
21g.45476404C=CA2392171596COL18A1c.1392C= (p.Pro464=)
c.852C= (p.Pro284=)
c.2097C= (p.Pro699=)
21g.45476404C>GCA512709630COL18A1c.1392C>G (p.Pro464=)
c.852C>G (p.Pro284=)
c.2097C>G (p.Pro699=)
21g.45476404C>TCA512709628COL18A1c.1392C>T (p.Pro464=)
c.852C>T (p.Pro284=)
c.2097C>T (p.Pro699=)
 dbSNP gnomAD v2 COSMIC COSMIC
21g.45476405T>ACA410514407COL18A1c.1393T>A (p.Leu465Met)
c.853T>A (p.Leu285Met)
c.2098T>A (p.Leu700Met)
21g.45476405T>CCA512709635COL18A1c.1393T>C (p.Leu465=)
c.853T>C (p.Leu285=)
c.2098T>C (p.Leu700=)
21g.45476405T>GCA410514409COL18A1c.1393T>G (p.Leu465Val)
c.853T>G (p.Leu285Val)
c.2098T>G (p.Leu700Val)
21g.45476406T>ACA410514414COL18A1c.1394T>A (p.Leu465Ter)
c.854T>A (p.Leu285Ter)
c.2099T>A (p.Leu700Ter)
21g.45476406T>CCA410514412COL18A1c.1394T>C (p.Leu465Ser)
c.854T>C (p.Leu285Ser)
c.2099T>C (p.Leu700Ser)
21g.45476406T>GCA410514410COL18A1c.1394T>G (p.Leu465Trp)
c.854T>G (p.Leu285Trp)
c.2099T>G (p.Leu700Trp)
21g.45476407G>ACA10065968COL18A1c.1395G>A (p.Leu465=)
c.855G>A (p.Leu285=)
c.2100G>A (p.Leu700=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476407G>CCA10065969COL18A1c.1395G>C (p.Leu465Phe)
c.855G>C (p.Leu285Phe)
c.2100G>C (p.Leu700Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476407G=CA2392171597COL18A1c.1395G= (p.Leu465=)
c.855G= (p.Leu285=)
c.2100G= (p.Leu700=)
21g.45476407G>TCA410514416COL18A1c.1395G>T (p.Leu465Phe)
c.855G>T (p.Leu285Phe)
c.2100G>T (p.Leu700Phe)
21g.45476408G>ACA410514418COL18A1c.1396G>A (p.Ala466Thr)
c.856G>A (p.Ala286Thr)
c.2101G>A (p.Ala701Thr)
21g.45476408G>CCA410514419COL18A1c.1396G>C (p.Ala466Pro)
c.856G>C (p.Ala286Pro)
c.2101G>C (p.Ala701Pro)
21g.45476408G>TCA410514420COL18A1c.1396G>T (p.Ala466Ser)
c.856G>T (p.Ala286Ser)
c.2101G>T (p.Ala701Ser)
 gnomAD v4
21g.45476409C>ACA410514421COL18A1c.1397C>A (p.Ala466Asp)
c.857C>A (p.Ala286Asp)
c.2102C>A (p.Ala701Asp)
21g.45476409C=CA2392171598COL18A1c.1397C= (p.Ala466=)
c.857C= (p.Ala286=)
c.2102C= (p.Ala701=)
21g.45476409C>GCA10065970COL18A1c.1397C>G (p.Ala466Gly)
c.857C>G (p.Ala286Gly)
c.2102C>G (p.Ala701Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476409C>TCA410514422COL18A1c.1397C>T (p.Ala466Val)
c.857C>T (p.Ala286Val)
c.2102C>T (p.Ala701Val)
21g.45476410T>ACA512709655COL18A1c.1398T>A (p.Ala466=)
c.858T>A (p.Ala286=)
c.2103T>A (p.Ala701=)
21g.45476410T>CCA512709657COL18A1c.1398T>C (p.Ala466=)
c.858T>C (p.Ala286=)
c.2103T>C (p.Ala701=)
 dbSNP gnomAD v4
21g.45476410T>GCA512709659COL18A1c.1398T>G (p.Ala466=)
c.858T>G (p.Ala286=)
c.2103T>G (p.Ala701=)
21g.45476411G>ACA410514424COL18A1c.1399G>A (p.Gly467Arg)
c.859G>A (p.Gly287Arg)
c.2104G>A (p.Gly702Arg)
21g.45476411G>CCA410514425COL18A1c.1399G>C (p.Gly467Arg)
c.859G>C (p.Gly287Arg)
c.2104G>C (p.Gly702Arg)
21g.45476411G>TCA410514426COL18A1c.1399G>T (p.Gly467Ter)
c.859G>T (p.Gly287Ter)
c.2104G>T (p.Gly702Ter)
21g.45476412G>ACA410514431COL18A1c.1400G>A (p.Gly467Glu)
c.860G>A (p.Gly287Glu)
c.2105G>A (p.Gly702Glu)
 ClinVar
21g.45476412G>CCA410514428COL18A1c.1400G>C (p.Gly467Ala)
c.860G>C (p.Gly287Ala)
c.2105G>C (p.Gly702Ala)
21g.45476412G=CA2392171599COL18A1c.1400G= (p.Gly467=)
c.860G= (p.Gly287=)
c.2105G= (p.Gly702=)
21g.45476412G>TCA410514429COL18A1c.1400G>T (p.Gly467Val)
c.860G>T (p.Gly287Val)
c.2105G>T (p.Gly702Val)
 dbSNP gnomAD v3 gnomAD v4
21g.45476413A=CA2392171600COL18A1c.1401A= (p.Gly467=)
c.861A= (p.Gly287=)
c.2106A= (p.Gly702=)
21g.45476413A>CCA512709669COL18A1c.1401A>C (p.Gly467=)
c.861A>C (p.Gly287=)
c.2106A>C (p.Gly702=)
 gnomAD v4
21g.45476413A>GCA512709670COL18A1c.1401A>G (p.Gly467=)
c.861A>G (p.Gly287=)
c.2106A>G (p.Gly702=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45476413A>TCA512709673COL18A1c.1401A>T (p.Gly467=)
c.861A>T (p.Gly287=)
c.2106A>T (p.Gly702=)
21g.45476414G>ACA410514433COL18A1c.1402G>A (p.Gly468Ser)
c.862G>A (p.Gly288Ser)
c.2107G>A (p.Gly703Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.45476414G>CCA410514434COL18A1c.1402G>C (p.Gly468Arg)
c.862G>C (p.Gly288Arg)
c.2107G>C (p.Gly703Arg)
21g.45476414G=CA2392171601COL18A1c.1402G= (p.Gly468=)
c.862G= (p.Gly288=)
c.2107G= (p.Gly703=)
21g.45476414G>TCA410514436COL18A1c.1402G>T (p.Gly468Cys)
c.862G>T (p.Gly288Cys)
c.2107G>T (p.Gly703Cys)
21g.45476415G>ACA410514437COL18A1c.1403G>A (p.Gly468Asp)
c.863G>A (p.Gly288Asp)
c.2108G>A (p.Gly703Asp)
 gnomAD v4
21g.45476415G>CCA410514439COL18A1c.1403G>C (p.Gly468Ala)
c.863G>C (p.Gly288Ala)
c.2108G>C (p.Gly703Ala)
21g.45476415G>TCA410514440COL18A1c.1403G>T (p.Gly468Val)
c.863G>T (p.Gly288Val)
c.2108G>T (p.Gly703Val)
21g.45476416C>ACA512709685COL18A1c.1404C>A (p.Gly468=)
c.864C>A (p.Gly288=)
c.2109C>A (p.Gly703=)
21g.45476416C>GCA512709689COL18A1c.1404C>G (p.Gly468=)
c.864C>G (p.Gly288=)
c.2109C>G (p.Gly703=)
21g.45476416C>TCA512709687COL18A1c.1404C>T (p.Gly468=)
c.864C>T (p.Gly288=)
c.2109C>T (p.Gly703=)
 COSMIC COSMIC
21g.45476417A>CCA410514442COL18A1c.1405A>C (p.Ser469Arg)
c.865A>C (p.Ser289Arg)
c.2110A>C (p.Ser704Arg)
21g.45476417A>GCA410514443COL18A1c.1405A>G (p.Ser469Gly)
c.865A>G (p.Ser289Gly)
c.2110A>G (p.Ser704Gly)
21g.45476417A>TCA410514445COL18A1c.1405A>T (p.Ser469Cys)
c.865A>T (p.Ser289Cys)
c.2110A>T (p.Ser704Cys)
21g.45476418G>ACA410514446COL18A1c.1406G>A (p.Ser469Asn)
c.866G>A (p.Ser289Asn)
c.2111G>A (p.Ser704Asn)
21g.45476418G>CCA410514447COL18A1c.1406G>C (p.Ser469Thr)
c.866G>C (p.Ser289Thr)
c.2111G>C (p.Ser704Thr)
21g.45476418G>TCA410514448COL18A1c.1406G>T (p.Ser469Ile)
c.866G>T (p.Ser289Ile)
c.2111G>T (p.Ser704Ile)
21g.45476419C>ACA410514451COL18A1c.1407C>A (p.Ser469Arg)
c.867C>A (p.Ser289Arg)
c.2112C>A (p.Ser704Arg)
21g.45476419C=CA2392171602COL18A1c.1407C= (p.Ser469=)
c.867C= (p.Ser289=)
c.2112C= (p.Ser704=)
21g.45476419C>GCA410514450COL18A1c.1407C>G (p.Ser469Arg)
c.867C>G (p.Ser289Arg)
c.2112C>G (p.Ser704Arg)
21g.45476419C>TCA512709702COL18A1c.1407C>T (p.Ser469=)
c.867C>T (p.Ser289=)
c.2112C>T (p.Ser704=)
 dbSNP gnomAD v2
21g.45476420A>CCA410514453COL18A1c.1408A>C (p.Ser470Arg)
c.868A>C (p.Ser290Arg)
c.2113A>C (p.Ser705Arg)
21g.45476420A>GCA410514456COL18A1c.1408A>G (p.Ser470Gly)
c.868A>G (p.Ser290Gly)
c.2113A>G (p.Ser705Gly)
21g.45476420A>TCA410514455COL18A1c.1408A>T (p.Ser470Cys)
c.868A>T (p.Ser290Cys)
c.2113A>T (p.Ser705Cys)
 gnomAD v4
21g.45476421G>ACA410514458COL18A1c.1409G>A (p.Ser470Asn)
c.869G>A (p.Ser290Asn)
c.2114G>A (p.Ser705Asn)
21g.45476421G>CCA410514459COL18A1c.1409G>C (p.Ser470Thr)
c.869G>C (p.Ser290Thr)
c.2114G>C (p.Ser705Thr)
21g.45476421G=CA2392171603COL18A1c.1409G= (p.Ser470=)
c.869G= (p.Ser290=)
c.2114G= (p.Ser705=)
21g.45476421G>TCA410514460COL18A1c.1409G>T (p.Ser470Ile)
c.869G>T (p.Ser290Ile)
c.2114G>T (p.Ser705Ile)
 dbSNP gnomAD v2 gnomAD v4
21g.45476422C>ACA410514463COL18A1c.1410C>A (p.Ser470Arg)
c.870C>A (p.Ser290Arg)
c.2115C>A (p.Ser705Arg)
21g.45476422C>GCA410514464COL18A1c.1410C>G (p.Ser470Arg)
c.870C>G (p.Ser290Arg)
c.2115C>G (p.Ser705Arg)
21g.45476422C>TCA512709716COL18A1c.1410C>T (p.Ser470=)
c.870C>T (p.Ser290=)
c.2115C>T (p.Ser705=)
21g.45476423A=CA2392171604COL18A1c.1411A= (p.Thr471=)
c.871A= (p.Thr291=)
c.2116A= (p.Thr706=)
21g.45476423A>CCA410514466COL18A1c.1411A>C (p.Thr471Pro)
c.871A>C (p.Thr291Pro)
c.2116A>C (p.Thr706Pro)
 ClinVar gnomAD v4
21g.45476423A>GCA10065971COL18A1c.1411A>G (p.Thr471Ala)
c.871A>G (p.Thr291Ala)
c.2116A>G (p.Thr706Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476423A>TCA410514468COL18A1c.1411A>T (p.Thr471Ser)
c.871A>T (p.Thr291Ser)
c.2116A>T (p.Thr706Ser)
21g.45476424C>ACA410514469COL18A1c.1412C>A (p.Thr471Lys)
c.872C>A (p.Thr291Lys)
c.2117C>A (p.Thr706Lys)
 dbSNP gnomAD v3 gnomAD v4
21g.45476424C=CA2392171605COL18A1c.1412C= (p.Thr471=)
c.872C= (p.Thr291=)
c.2117C= (p.Thr706=)
21g.45476424C>GCA410514471COL18A1c.1412C>G (p.Thr471Arg)
c.872C>G (p.Thr291Arg)
c.2117C>G (p.Thr706Arg)
21g.45476424C>TCA10065972COL18A1c.1412C>T (p.Thr471Met)
c.872C>T (p.Thr291Met)
c.2117C>T (p.Thr706Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476425G>ACA10065973COL18A1c.1413G>A (p.Thr471=)
c.873G>A (p.Thr291=)
c.2118G>A (p.Thr706=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476425G>CCA512709730COL18A1c.1413G>C (p.Thr471=)
c.873G>C (p.Thr291=)
c.2118G>C (p.Thr706=)
21g.45476425G=CA2392171606COL18A1c.1413G= (p.Thr471=)
c.873G= (p.Thr291=)
c.2118G= (p.Thr706=)
21g.45476425G>TCA512709728COL18A1c.1413G>T (p.Thr471=)
c.873G>T (p.Thr291=)
c.2118G>T (p.Thr706=)
 COSMIC
21g.45476426delCA645602037COL18A1c.1414del (p.Glu472LysfsTer17)
c.874del (p.Glu292LysfsTer17)
c.2119del (p.Glu707LysfsTer17)
 COSMIC COSMIC
21g.45476426G>ACA410514475COL18A1c.1414G>A (p.Glu472Lys)
c.874G>A (p.Glu292Lys)
c.2119G>A (p.Glu707Lys)
21g.45476426G>CCA10065974COL18A1c.1414G>C (p.Glu472Gln)
c.874G>C (p.Glu292Gln)
c.2119G>C (p.Glu707Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476426G=CA2392171607COL18A1c.1414G= (p.Glu472=)
c.874G= (p.Glu292=)
c.2119G= (p.Glu707=)
21g.45476426G>TCA410514474COL18A1c.1414G>T (p.Glu472Ter)
c.874G>T (p.Glu292Ter)
c.2119G>T (p.Glu707Ter)
21g.45476427A>CCA410514477COL18A1c.1415A>C (p.Glu472Ala)
c.875A>C (p.Glu292Ala)
c.2120A>C (p.Glu707Ala)
21g.45476427A>GCA410514478COL18A1c.1415A>G (p.Glu472Gly)
c.875A>G (p.Glu292Gly)
c.2120A>G (p.Glu707Gly)
21g.45476427A>TCA410514479COL18A1c.1415A>T (p.Glu472Val)
c.875A>T (p.Glu292Val)
c.2120A>T (p.Glu707Val)
21g.45476428A>CCA410514481COL18A1c.1416A>C (p.Glu472Asp)
c.876A>C (p.Glu292Asp)
c.2121A>C (p.Glu707Asp)
21g.45476428A>GCA512709743COL18A1c.1416A>G (p.Glu472=)
c.876A>G (p.Glu292=)
c.2121A>G (p.Glu707=)
21g.45476428A>TCA410514483COL18A1c.1416A>T (p.Glu472Asp)
c.876A>T (p.Glu292Asp)
c.2121A>T (p.Glu707Asp)
21g.45476429G>ACA410514484COL18A1c.1417G>A (p.Asp473Asn)
c.877G>A (p.Asp293Asn)
c.2122G>A (p.Asp708Asn)
21g.45476429G>CCA410514486COL18A1c.1417G>C (p.Asp473His)
c.877G>C (p.Asp293His)
c.2122G>C (p.Asp708His)
 dbSNP gnomAD v2 gnomAD v4
21g.45476429G=CA2392171608COL18A1c.1417G= (p.Asp473=)
c.877G= (p.Asp293=)
c.2122G= (p.Asp708=)
21g.45476429G>TCA410514487COL18A1c.1417G>T (p.Asp473Tyr)
c.877G>T (p.Asp293Tyr)
c.2122G>T (p.Asp708Tyr)
 gnomAD v4
21g.45476430A>CCA410514488COL18A1c.1418A>C (p.Asp473Ala)
c.878A>C (p.Asp293Ala)
c.2123A>C (p.Asp708Ala)
 gnomAD v4
21g.45476430A>GCA410514489COL18A1c.1418A>G (p.Asp473Gly)
c.878A>G (p.Asp293Gly)
c.2123A>G (p.Asp708Gly)
21g.45476430A>TCA410514490COL18A1c.1418A>T (p.Asp473Val)
c.878A>T (p.Asp293Val)
c.2123A>T (p.Asp708Val)
21g.45476431T>ACA410514494COL18A1c.1419T>A (p.Asp473Glu)
c.879T>A (p.Asp293Glu)
c.2124T>A (p.Asp708Glu)
21g.45476431T>CCA512709757COL18A1c.1419T>C (p.Asp473=)
c.879T>C (p.Asp293=)
c.2124T>C (p.Asp708=)
21g.45476431T>GCA410514492COL18A1c.1419T>G (p.Asp473Glu)
c.879T>G (p.Asp293Glu)
c.2124T>G (p.Asp708Glu)
21g.45476432T>ACA410514495COL18A1c.1420T>A (p.Ser474Thr)
c.880T>A (p.Ser294Thr)
c.2125T>A (p.Ser709Thr)
21g.45476432T>CCA410514496COL18A1c.1420T>C (p.Ser474Pro)
c.880T>C (p.Ser294Pro)
c.2125T>C (p.Ser709Pro)
21g.45476432T>GCA410514498COL18A1c.1420T>G (p.Ser474Ala)
c.880T>G (p.Ser294Ala)
c.2125T>G (p.Ser709Ala)
21g.45476433C>ACA410514500COL18A1c.1421C>A (p.Ser474Tyr)
c.881C>A (p.Ser294Tyr)
c.2126C>A (p.Ser709Tyr)
21g.45476433C=CA2392171609COL18A1c.1421C= (p.Ser474=)
c.881C= (p.Ser294=)
c.2126C= (p.Ser709=)
21g.45476433C>GCA410514501COL18A1c.1421C>G (p.Ser474Cys)
c.881C>G (p.Ser294Cys)
c.2126C>G (p.Ser709Cys)
 dbSNP gnomAD v3 gnomAD v4
21g.45476433C>TCA410514503COL18A1c.1421C>T (p.Ser474Phe)
c.881C>T (p.Ser294Phe)
c.2126C>T (p.Ser709Phe)
 dbSNP
21g.45476434C>ACA512709771COL18A1c.1422C>A (p.Ser474=)
c.882C>A (p.Ser294=)
c.2127C>A (p.Ser709=)
21g.45476434C=CA2392171610COL18A1c.1422C= (p.Ser474=)
c.882C= (p.Ser294=)
c.2127C= (p.Ser709=)
21g.45476434C>GCA512709769COL18A1c.1422C>G (p.Ser474=)
c.882C>G (p.Ser294=)
c.2127C>G (p.Ser709=)
21g.45476434C>TCA321913674COL18A1c.1422C>T (p.Ser474=)
c.882C>T (p.Ser294=)
c.2127C>T (p.Ser709=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476435A=CA2392171611COL18A1c.1423A= (p.Arg475=)
c.883A= (p.Arg295=)
c.2128A= (p.Arg710=)
21g.45476435A>CCA512709774COL18A1c.1423A>C (p.Arg475=)
c.883A>C (p.Arg295=)
c.2128A>C (p.Arg710=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476435A>GCA410514504COL18A1c.1423A>G (p.Arg475Gly)
c.883A>G (p.Arg295Gly)
c.2128A>G (p.Arg710Gly)
 gnomAD v4
21g.45476435A>TCA410514505COL18A1c.1423A>T (p.Arg475Ter)
c.883A>T (p.Arg295Ter)
c.2128A>T (p.Arg710Ter)
21g.45476436G>ACA410514507COL18A1c.1424G>A (p.Arg475Lys)
c.884G>A (p.Arg295Lys)
c.2129G>A (p.Arg710Lys)
21g.45476436G>CCA410514509COL18A1c.1424G>C (p.Arg475Thr)
c.884G>C (p.Arg295Thr)
c.2129G>C (p.Arg710Thr)
 gnomAD v4
21g.45476436G>TCA410514510COL18A1c.1424G>T (p.Arg475Ile)
c.884G>T (p.Arg295Ile)
c.2129G>T (p.Arg710Ile)
21g.45476437A>CCA410514512COL18A1c.1425A>C (p.Arg475Ser)
c.885A>C (p.Arg295Ser)
c.2130A>C (p.Arg710Ser)
21g.45476437A>GCA512709784COL18A1c.1425A>G (p.Arg475=)
c.885A>G (p.Arg295=)
c.2130A>G (p.Arg710=)
21g.45476437A>TCA410514513COL18A1c.1425A>T (p.Arg475Ser)
c.885A>T (p.Arg295Ser)
c.2130A>T (p.Arg710Ser)
21g.45476438A=CA2392171612COL18A1c.1426A= (p.Ser476=)
c.886A= (p.Ser296=)
c.2131A= (p.Ser711=)
21g.45476438A>CCA410514515COL18A1c.1426A>C (p.Ser476Arg)
c.886A>C (p.Ser296Arg)
c.2131A>C (p.Ser711Arg)
21g.45476438A>GCA410514516COL18A1c.1426A>G (p.Ser476Gly)
c.886A>G (p.Ser296Gly)
c.2131A>G (p.Ser711Gly)
 dbSNP gnomAD v2
21g.45476438A>TCA410514514COL18A1c.1426A>T (p.Ser476Cys)
c.886A>T (p.Ser296Cys)
c.2131A>T (p.Ser711Cys)
21g.45476439G>ACA10065975COL18A1c.1427G>A (p.Ser476Asn)
c.887G>A (p.Ser296Asn)
c.2132G>A (p.Ser711Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476439G>CCA410514518COL18A1c.1427G>C (p.Ser476Thr)
c.887G>C (p.Ser296Thr)
c.2132G>C (p.Ser711Thr)
21g.45476439G=CA2392171613COL18A1c.1427G= (p.Ser476=)
c.887G= (p.Ser296=)
c.2132G= (p.Ser711=)
21g.45476439G>TCA410514520COL18A1c.1427G>T (p.Ser476Ile)
c.887G>T (p.Ser296Ile)
c.2132G>T (p.Ser711Ile)
21g.45476440T>ACA410514521COL18A1c.1428T>A (p.Ser476Arg)
c.888T>A (p.Ser296Arg)
c.2133T>A (p.Ser711Arg)
21g.45476440T>CCA512709798COL18A1c.1428T>C (p.Ser476=)
c.888T>C (p.Ser296=)
c.2133T>C (p.Ser711=)
21g.45476440T>GCA410514522COL18A1c.1428T>G (p.Ser476Arg)
c.888T>G (p.Ser296Arg)
c.2133T>G (p.Ser711Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.45476440T=CA2392171614COL18A1c.1428T= (p.Ser476=)
c.888T= (p.Ser296=)
c.2133T= (p.Ser711=)
21g.45476440_45476442dupCA749792384COL18A1c.1428_1430dup (p.Ser476_Glu477insAsp)
c.888_890dup (p.Ser296_Glu297insAsp)
c.2133_2135dup (p.Ser711_Glu712insAsp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45476440_45476443delinsTGAACA2392171615COL18A1c.1428_1431delinsTGAA (p.Ser476=)
c.888_891delinsTGAA (p.Ser296=)
c.2133_2136delinsTGAA (p.Ser711=)
21g.45476441G>ACA410514527COL18A1c.1429G>A (p.Glu477Lys)
c.889G>A (p.Glu297Lys)
c.2134G>A (p.Glu712Lys)
21g.45476441G>CCA410514525COL18A1c.1429G>C (p.Glu477Gln)
c.889G>C (p.Glu297Gln)
c.2134G>C (p.Glu712Gln)
21g.45476441G>TCA410514526COL18A1c.1429G>T (p.Glu477Ter)
c.889G>T (p.Glu297Ter)
c.2134G>T (p.Glu712Ter)
21g.45476445_45476447delCA638496986COL18A1c.1433_1435del (p.Glu478del)
c.893_895del (p.Glu298del)
c.2138_2140del (p.Glu713del)
 dbSNP gnomAD v2 gnomAD v4
21g.45476442A=CA2392171616COL18A1c.1430A= (p.Glu477=)
c.890A= (p.Glu297=)
c.2135A= (p.Glu712=)
21g.45476442A>CCA321913678COL18A1c.1430A>C (p.Glu477Ala)
c.890A>C (p.Glu297Ala)
c.2135A>C (p.Glu712Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476442A>GCA410514529COL18A1c.1430A>G (p.Glu477Gly)
c.890A>G (p.Glu297Gly)
c.2135A>G (p.Glu712Gly)
21g.45476442A>TCA410514531COL18A1c.1430A>T (p.Glu477Val)
c.890A>T (p.Glu297Val)
c.2135A>T (p.Glu712Val)
21g.45476443A>CCA410514532COL18A1c.1431A>C (p.Glu477Asp)
c.891A>C (p.Glu297Asp)
c.2136A>C (p.Glu712Asp)
21g.45476443A>GCA512709812COL18A1c.1431A>G (p.Glu477=)
c.891A>G (p.Glu297=)
c.2136A>G (p.Glu712=)
21g.45476443A>TCA410514534COL18A1c.1431A>T (p.Glu477Asp)
c.891A>T (p.Glu297Asp)
c.2136A>T (p.Glu712Asp)
21g.45476444G>ACA410514539COL18A1c.1432G>A (p.Glu478Lys)
c.892G>A (p.Glu298Lys)
c.2137G>A (p.Glu713Lys)
21g.45476444G>CCA410514537COL18A1c.1432G>C (p.Glu478Gln)
c.892G>C (p.Glu298Gln)
c.2137G>C (p.Glu713Gln)
21g.45476444G>TCA410514535COL18A1c.1432G>T (p.Glu478Ter)
c.892G>T (p.Glu298Ter)
c.2137G>T (p.Glu713Ter)
 ClinVar dbSNP
21g.45476445A=CA2392171617COL18A1c.1433A= (p.Glu478=)
c.893A= (p.Glu298=)
c.2138A= (p.Glu713=)
21g.45476445A>CCA410514540COL18A1c.1433A>C (p.Glu478Ala)
c.893A>C (p.Glu298Ala)
c.2138A>C (p.Glu713Ala)
21g.45476445A>GCA410514543COL18A1c.1433A>G (p.Glu478Gly)
c.893A>G (p.Glu298Gly)
c.2138A>G (p.Glu713Gly)
21g.45476445A>TCA410514542COL18A1c.1433A>T (p.Glu478Val)
c.893A>T (p.Glu298Val)
c.2138A>T (p.Glu713Val)
 dbSNP gnomAD v2
21g.45476446A=CA2392171618COL18A1c.1434A= (p.Glu478=)
c.894A= (p.Glu298=)
c.2139A= (p.Glu713=)
21g.45476446A>CCA410514544COL18A1c.1434A>C (p.Glu478Asp)
c.894A>C (p.Glu298Asp)
c.2139A>C (p.Glu713Asp)
 dbSNP gnomAD v2
21g.45476446A>GCA512709827COL18A1c.1434A>G (p.Glu478=)
c.894A>G (p.Glu298=)
c.2139A>G (p.Glu713=)
 dbSNP
21g.45476446A>TCA410514546COL18A1c.1434A>T (p.Glu478Asp)
c.894A>T (p.Glu298Asp)
c.2139A>T (p.Glu713Asp)
21g.45476447G>ACA10065976COL18A1c.1435G>A (p.Val479Ile)
c.895G>A (p.Val299Ile)
c.2140G>A (p.Val714Ile)
 dbSNP ExAC gnomAD v2
21g.45476447G>CCA410514549COL18A1c.1435G>C (p.Val479Leu)
c.895G>C (p.Val299Leu)
c.2140G>C (p.Val714Leu)
21g.45476447G=CA2392171619COL18A1c.1435G= (p.Val479=)
c.895G= (p.Val299=)
c.2140G= (p.Val714=)
21g.45476447G>TCA410514550COL18A1c.1435G>T (p.Val479Phe)
c.895G>T (p.Val299Phe)
c.2140G>T (p.Val714Phe)
 dbSNP
21g.45476448T>ACA410514551COL18A1c.1436T>A (p.Val479Asp)
c.896T>A (p.Val299Asp)
c.2141T>A (p.Val714Asp)
 dbSNP gnomAD v3 gnomAD v4
21g.45476448T>CCA410514553COL18A1c.1436T>C (p.Val479Ala)
c.896T>C (p.Val299Ala)
c.2141T>C (p.Val714Ala)
 gnomAD v4
21g.45476448T>GCA410514555COL18A1c.1436T>G (p.Val479Gly)
c.896T>G (p.Val299Gly)
c.2141T>G (p.Val714Gly)
21g.45476448T=CA2392171620COL18A1c.1436T= (p.Val479=)
c.896T= (p.Val299=)
c.2141T= (p.Val714=)
21g.45476449C>ACA512709843COL18A1c.1437C>A (p.Val479=)
c.897C>A (p.Val299=)
c.2142C>A (p.Val714=)
21g.45476449C=CA2392171621COL18A1c.1437C= (p.Val479=)
c.897C= (p.Val299=)
c.2142C= (p.Val714=)
21g.45476449C>GCA512709844COL18A1c.1437C>G (p.Val479=)
c.897C>G (p.Val299=)
c.2142C>G (p.Val714=)
21g.45476449C>TCA10065977COL18A1c.1437C>T (p.Val479=)
c.897C>T (p.Val299=)
c.2142C>T (p.Val714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476449_45476452delinsCGAGCA2392171622COL18A1c.1437_1440delinsCGAG (p.Val479=)
c.897_900delinsCGAG (p.Val299=)
c.2142_2145delinsCGAG (p.Val714=)
21g.45476450G>ACA10065979COL18A1c.1438G>A (p.Glu480Lys)
c.898G>A (p.Glu300Lys)
c.2143G>A (p.Glu715Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476450G>CCA410514558COL18A1c.1438G>C (p.Glu480Gln)
c.898G>C (p.Glu300Gln)
c.2143G>C (p.Glu715Gln)
21g.45476450G=CA2392171623COL18A1c.1438G= (p.Glu480=)
c.898G= (p.Glu300=)
c.2143G= (p.Glu715=)
21g.45476450G>TCA410514560COL18A1c.1438G>T (p.Glu480Ter)
c.898G>T (p.Glu300Ter)
c.2143G>T (p.Glu715Ter)
21g.45476453_45476455delCA10065978COL18A1c.1441_1443del (p.Glu481del)
c.901_903del (p.Glu301del)
c.2146_2148del (p.Glu716del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476451A>CCA410514565COL18A1c.1439A>C (p.Glu480Ala)
c.899A>C (p.Glu300Ala)
c.2144A>C (p.Glu715Ala)
21g.45476451A>GCA410514562COL18A1c.1439A>G (p.Glu480Gly)
c.899A>G (p.Glu300Gly)
c.2144A>G (p.Glu715Gly)
21g.45476451A>TCA410514563COL18A1c.1439A>T (p.Glu480Val)
c.899A>T (p.Glu300Val)
c.2144A>T (p.Glu715Val)
21g.45476452G>ACA512709860COL18A1c.1440G>A (p.Glu480=)
c.900G>A (p.Glu300=)
c.2145G>A (p.Glu715=)
 dbSNP gnomAD v3 gnomAD v4
21g.45476452G>CCA410514567COL18A1c.1440G>C (p.Glu480Asp)
c.900G>C (p.Glu300Asp)
c.2145G>C (p.Glu715Asp)
21g.45476452G=CA2392171624COL18A1c.1440G= (p.Glu480=)
c.900G= (p.Glu300=)
c.2145G= (p.Glu715=)
21g.45476452G>TCA410514568COL18A1c.1440G>T (p.Glu480Asp)
c.900G>T (p.Glu300Asp)
c.2145G>T (p.Glu715Asp)
21g.45476453G>ACA410514570COL18A1c.1441G>A (p.Glu481Lys)
c.901G>A (p.Glu301Lys)
c.2146G>A (p.Glu716Lys)
21g.45476453G>CCA410514571COL18A1c.1441G>C (p.Glu481Gln)
c.901G>C (p.Glu301Gln)
c.2146G>C (p.Glu716Gln)
21g.45476453G>TCA410514572COL18A1c.1441G>T (p.Glu481Ter)
c.901G>T (p.Glu301Ter)
c.2146G>T (p.Glu716Ter)
21g.45476454A=CA2392171625COL18A1c.1442A= (p.Glu481=)
c.902A= (p.Glu301=)
c.2147A= (p.Glu716=)
21g.45476454A>CCA410514574COL18A1c.1442A>C (p.Glu481Ala)
c.902A>C (p.Glu301Ala)
c.2147A>C (p.Glu716Ala)
21g.45476454A>GCA410514575COL18A1c.1442A>G (p.Glu481Gly)
c.902A>G (p.Glu301Gly)
c.2147A>G (p.Glu716Gly)
21g.45476454A>TCA410514576COL18A1c.1442A>T (p.Glu481Val)
c.902A>T (p.Glu301Val)
c.2147A>T (p.Glu716Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476455G>ACA512709871COL18A1c.1443G>A (p.Glu481=)
c.903G>A (p.Glu301=)
c.2148G>A (p.Glu716=)
 gnomAD v4
21g.45476455G>CCA410514578COL18A1c.1443G>C (p.Glu481Asp)
c.903G>C (p.Glu301Asp)
c.2148G>C (p.Glu716Asp)
21g.45476455G>TCA410514579COL18A1c.1443G>T (p.Glu481Asp)
c.903G>T (p.Glu301Asp)
c.2148G>T (p.Glu716Asp)
21g.45476456C>ACA410514582COL18A1c.1444C>A (p.Gln482Lys)
c.904C>A (p.Gln302Lys)
c.2149C>A (p.Gln717Lys)
21g.45476456C>GCA410514584COL18A1c.1444C>G (p.Gln482Glu)
c.904C>G (p.Gln302Glu)
c.2149C>G (p.Gln717Glu)
21g.45476456C>TCA410514581COL18A1c.1444C>T (p.Gln482Ter)
c.904C>T (p.Gln302Ter)
c.2149C>T (p.Gln717Ter)
21g.45476457A>CCA410514585COL18A1c.1445A>C (p.Gln482Pro)
c.905A>C (p.Gln302Pro)
c.2150A>C (p.Gln717Pro)
21g.45476457A>GCA410514587COL18A1c.1445A>G (p.Gln482Arg)
c.905A>G (p.Gln302Arg)
c.2150A>G (p.Gln717Arg)
21g.45476457A>TCA410514588COL18A1c.1445A>T (p.Gln482Leu)
c.905A>T (p.Gln302Leu)
c.2150A>T (p.Gln717Leu)
21g.45476458G>ACA512709886COL18A1c.1446G>A (p.Gln482=)
c.906G>A (p.Gln302=)
c.2151G>A (p.Gln717=)
21g.45476458G>CCA410514590COL18A1c.1446G>C (p.Gln482His)
c.906G>C (p.Gln302His)
c.2151G>C (p.Gln717His)
21g.45476458G>TCA410514591COL18A1c.1446G>T (p.Gln482His)
c.906G>T (p.Gln302His)
c.2151G>T (p.Gln717His)
21g.45476459A=CA2392171626COL18A1c.1447A= (p.Thr483=)
c.907A= (p.Thr303=)
c.2152A= (p.Thr718=)
21g.45476459A>CCA10065980COL18A1c.1447A>C (p.Thr483Pro)
c.907A>C (p.Thr303Pro)
c.2152A>C (p.Thr718Pro)
 dbSNP ExAC gnomAD v2
21g.45476459A>GCA410514593COL18A1c.1447A>G (p.Thr483Ala)
c.907A>G (p.Thr303Ala)
c.2152A>G (p.Thr718Ala)
21g.45476459A>TCA410514594COL18A1c.1447A>T (p.Thr483Ser)
c.907A>T (p.Thr303Ser)
c.2152A>T (p.Thr718Ser)
 dbSNP
21g.45476460C>ACA410514596COL18A1c.1448C>A (p.Thr483Asn)
c.908C>A (p.Thr303Asn)
c.2153C>A (p.Thr718Asn)
 gnomAD v4
21g.45476460C=CA2392171627COL18A1c.1448C= (p.Thr483=)
c.908C= (p.Thr303=)
c.2153C= (p.Thr718=)
21g.45476460C>GCA410514598COL18A1c.1448C>G (p.Thr483Ser)
c.908C>G (p.Thr303Ser)
c.2153C>G (p.Thr718Ser)
21g.45476460C>TCA410514599COL18A1c.1448C>T (p.Thr483Ile)
c.908C>T (p.Thr303Ile)
c.2153C>T (p.Thr718Ile)
 ClinVar dbSNP gnomAD v4
21g.45476461C>ACA512709900COL18A1c.1449C>A (p.Thr483=)
c.909C>A (p.Thr303=)
c.2154C>A (p.Thr718=)
 dbSNP gnomAD v2 gnomAD v4
21g.45476461C=CA2392171628COL18A1c.1449C= (p.Thr483=)
c.909C= (p.Thr303=)
c.2154C= (p.Thr718=)
21g.45476461C>GCA512709897COL18A1c.1449C>G (p.Thr483=)
c.909C>G (p.Thr303=)
c.2154C>G (p.Thr718=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476461C>TCA512709898COL18A1c.1449C>T (p.Thr483=)
c.909C>T (p.Thr303=)
c.2154C>T (p.Thr718=)
21g.45476462A=CA2392171629COL18A1c.1450A= (p.Thr484=)
c.910A= (p.Thr304=)
c.2155A= (p.Thr719=)
21g.45476462A>CCA410514602COL18A1c.1450A>C (p.Thr484Pro)
c.910A>C (p.Thr304Pro)
c.2155A>C (p.Thr719Pro)
21g.45476462A>GCA10065981COL18A1c.1450A>G (p.Thr484Ala)
c.910A>G (p.Thr304Ala)
c.2155A>G (p.Thr719Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476462A>TCA410514600COL18A1c.1450A>T (p.Thr484Ser)
c.910A>T (p.Thr304Ser)
c.2155A>T (p.Thr719Ser)
 COSMIC COSMIC COSMIC
21g.45476463C>ACA410514605COL18A1c.1451C>A (p.Thr484Lys)
c.911C>A (p.Thr304Lys)
c.2156C>A (p.Thr719Lys)
21g.45476463C=CA2392171630COL18A1c.1451C= (p.Thr484=)
c.911C= (p.Thr304=)
c.2156C= (p.Thr719=)
21g.45476463C>GCA410514606COL18A1c.1451C>G (p.Thr484Arg)
c.911C>G (p.Thr304Arg)
c.2156C>G (p.Thr719Arg)
21g.45476463C>TCA10065982COL18A1c.1451C>T (p.Thr484Met)
c.911C>T (p.Thr304Met)
c.2156C>T (p.Thr719Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476464G>ACA10065983COL18A1c.1452G>A (p.Thr484=)
c.912G>A (p.Thr304=)
c.2157G>A (p.Thr719=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476464G>CCA512709912COL18A1c.1452G>C (p.Thr484=)
c.912G>C (p.Thr304=)
c.2157G>C (p.Thr719=)
 dbSNP
21g.45476464G=CA2392171631COL18A1c.1452G= (p.Thr484=)
c.912G= (p.Thr304=)
c.2157G= (p.Thr719=)
21g.45476464G>TCA512709915COL18A1c.1452G>T (p.Thr484=)
c.912G>T (p.Thr304=)
c.2157G>T (p.Thr719=)
 gnomAD v4
21g.45476465G>ACA410514613COL18A1c.1453G>A (p.Val485Met)
c.913G>A (p.Val305Met)
c.2158G>A (p.Val720Met)
21g.45476465G>CCA410514611COL18A1c.1453G>C (p.Val485Leu)
c.913G>C (p.Val305Leu)
c.2158G>C (p.Val720Leu)
21g.45476465G>TCA410514610COL18A1c.1453G>T (p.Val485Leu)
c.913G>T (p.Val305Leu)
c.2158G>T (p.Val720Leu)
21g.45476466T>ACA410514614COL18A1c.1454T>A (p.Val485Glu)
c.914T>A (p.Val305Glu)
c.2159T>A (p.Val720Glu)
21g.45476466T>CCA10065984COL18A1c.1454T>C (p.Val485Ala)
c.914T>C (p.Val305Ala)
c.2159T>C (p.Val720Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476466T>GCA410514616COL18A1c.1454T>G (p.Val485Gly)
c.914T>G (p.Val305Gly)
c.2159T>G (p.Val720Gly)
21g.45476466T=CA2392171632COL18A1c.1454T= (p.Val485=)
c.914T= (p.Val305=)
c.2159T= (p.Val720=)
21g.45476467G>ACA512709926COL18A1c.1455G>A (p.Val485=)
c.915G>A (p.Val305=)
c.2160G>A (p.Val720=)
21g.45476467G>CCA512709929COL18A1c.1455G>C (p.Val485=)
c.915G>C (p.Val305=)
c.2160G>C (p.Val720=)
21g.45476467G=CA2392171633COL18A1c.1455G= (p.Val485=)
c.915G= (p.Val305=)
c.2160G= (p.Val720=)
21g.45476467G>TCA10065985COL18A1c.1455G>T (p.Val485=)
c.915G>T (p.Val305=)
c.2160G>T (p.Val720=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476468G>ACA410514618COL18A1c.1456G>A (p.Ala486Thr)
c.916G>A (p.Ala306Thr)
c.2161G>A (p.Ala721Thr)
21g.45476468G>CCA410514619COL18A1c.1456G>C (p.Ala486Pro)
c.916G>C (p.Ala306Pro)
c.2161G>C (p.Ala721Pro)
21g.45476468G>TCA410514621COL18A1c.1456G>T (p.Ala486Ser)
c.916G>T (p.Ala306Ser)
c.2161G>T (p.Ala721Ser)
21g.45476469C>ACA410514624COL18A1c.1457C>A (p.Ala486Asp)
c.917C>A (p.Ala306Asp)
c.2162C>A (p.Ala721Asp)
 gnomAD v4
21g.45476469C>GCA410514626COL18A1c.1457C>G (p.Ala486Gly)
c.917C>G (p.Ala306Gly)
c.2162C>G (p.Ala721Gly)
21g.45476469C>TCA410514623COL18A1c.1457C>T (p.Ala486Val)
c.917C>T (p.Ala306Val)
c.2162C>T (p.Ala721Val)
21g.45476470T>ACA512709939COL18A1c.1458T>A (p.Ala486=)
c.918T>A (p.Ala306=)
c.2163T>A (p.Ala721=)
21g.45476470T>CCA512709941COL18A1c.1458T>C (p.Ala486=)
c.918T>C (p.Ala306=)
c.2163T>C (p.Ala721=)
21g.45476470T>GCA512709937COL18A1c.1458T>G (p.Ala486=)
c.918T>G (p.Ala306=)
c.2163T>G (p.Ala721=)
21g.45476471T>ACA410514631COL18A1c.1459T>A (p.Ser487Thr)
c.919T>A (p.Ser307Thr)
c.2164T>A (p.Ser722Thr)
21g.45476471T>CCA410514627COL18A1c.1459T>C (p.Ser487Pro)
c.919T>C (p.Ser307Pro)
c.2164T>C (p.Ser722Pro)
21g.45476471T>GCA410514629COL18A1c.1459T>G (p.Ser487Ala)
c.919T>G (p.Ser307Ala)
c.2164T>G (p.Ser722Ala)
21g.45476472C>ACA410514632COL18A1c.1460C>A (p.Ser487Ter)
c.920C>A (p.Ser307Ter)
c.2165C>A (p.Ser722Ter)
21g.45476472C=CA2392171634COL18A1c.1460C= (p.Ser487=)
c.920C= (p.Ser307=)
c.2165C= (p.Ser722=)
21g.45476472C>GCA410514633COL18A1c.1460C>G (p.Ser487Trp)
c.920C>G (p.Ser307Trp)
c.2165C>G (p.Ser722Trp)
21g.45476472C>TCA10065986COL18A1c.1460C>T (p.Ser487Leu)
c.920C>T (p.Ser307Leu)
c.2165C>T (p.Ser722Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476473G>ACA10065987COL18A1c.1461G>A (p.Ser487=)
c.921G>A (p.Ser307=)
c.2166G>A (p.Ser722=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476473G>CCA512709954COL18A1c.1461G>C (p.Ser487=)
c.921G>C (p.Ser307=)
c.2166G>C (p.Ser722=)
21g.45476473G=CA2392171635COL18A1c.1461G= (p.Ser487=)
c.921G= (p.Ser307=)
c.2166G= (p.Ser722=)
21g.45476473G>TCA512709957COL18A1c.1461G>T (p.Ser487=)
c.921G>T (p.Ser307=)
c.2166G>T (p.Ser722=)
21g.45476474T>ACA410514636COL18A1c.1462T>A (p.Leu488Ile)
c.922T>A (p.Leu308Ile)
c.2167T>A (p.Leu723Ile)
21g.45476474T>CCA512709962COL18A1c.1462T>C (p.Leu488=)
c.922T>C (p.Leu308=)
c.2167T>C (p.Leu723=)
21g.45476474T>GCA410514638COL18A1c.1462T>G (p.Leu488Val)
c.922T>G (p.Leu308Val)
c.2167T>G (p.Leu723Val)
21g.45476475T>ACA410514639COL18A1c.1463T>A (p.Leu488Ter)
c.923T>A (p.Leu308Ter)
c.2168T>A (p.Leu723Ter)
21g.45476475T>CCA410514640COL18A1c.1463T>C (p.Leu488Ser)
c.923T>C (p.Leu308Ser)
c.2168T>C (p.Leu723Ser)
21g.45476475T>GCA410514642COL18A1c.1463T>G (p.Leu488Ter)
c.923T>G (p.Leu308Ter)
c.2168T>G (p.Leu723Ter)
21g.45476476A=CA2392171636COL18A1c.1464A= (p.Leu488=)
c.924A= (p.Leu308=)
c.2169A= (p.Leu723=)
21g.45476476A>CCA410514644COL18A1c.1464A>C (p.Leu488Phe)
c.924A>C (p.Leu308Phe)
c.2169A>C (p.Leu723Phe)
21g.45476476A>GCA512709971COL18A1c.1464A>G (p.Leu488=)
c.924A>G (p.Leu308=)
c.2169A>G (p.Leu723=)
 dbSNP gnomAD v2 gnomAD v4
21g.45476476A>TCA410514645COL18A1c.1464A>T (p.Leu488Phe)
c.924A>T (p.Leu308Phe)
c.2169A>T (p.Leu723Phe)
 gnomAD v4
21g.45476477G>ACA321913698COL18A1c.1465G>A (p.Gly489Arg)
c.925G>A (p.Gly309Arg)
c.2170G>A (p.Gly724Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476477G>CCA410514646COL18A1c.1465G>C (p.Gly489Arg)
c.925G>C (p.Gly309Arg)
c.2170G>C (p.Gly724Arg)
21g.45476477G=CA2392171637COL18A1c.1465G= (p.Gly489=)
c.925G= (p.Gly309=)
c.2170G= (p.Gly724=)
21g.45476477G>TCA410514648COL18A1c.1465G>T (p.Gly489Ter)
c.925G>T (p.Gly309Ter)
c.2170G>T (p.Gly724Ter)
21g.45476477_45476479delinsGGACA2392171638COL18A1c.1465_1467delinsGGA (p.Gly489=)
c.925_927delinsGGA (p.Gly309=)
c.2170_2172delinsGGA (p.Gly724=)
21g.45476478G>ACA410514651COL18A1c.1466G>A (p.Gly489Glu)
c.926G>A (p.Gly309Glu)
c.2171G>A (p.Gly724Glu)
 gnomAD v4
21g.45476478G>CCA10065988COL18A1c.1466G>C (p.Gly489Ala)
c.926G>C (p.Gly309Ala)
c.2171G>C (p.Gly724Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476478G=CA2392171640COL18A1c.1466G= (p.Gly489=)
c.926G= (p.Gly309=)
c.2171G= (p.Gly724=)
21g.45476478G>TCA410514652COL18A1c.1466G>T (p.Gly489Val)
c.926G>T (p.Gly309Val)
c.2171G>T (p.Gly724Val)
21g.45476479_45476480delCA2392171639COL18A1c.1467_1468del (p.Ala490SerfsTer?)
c.927_928del (p.Ala310SerfsTer?)
c.2172_2173del (p.Ala725SerfsTer?)
 dbSNP
21g.45476479A=CA2392171641COL18A1c.1467A= (p.Gly489=)
c.927A= (p.Gly309=)
c.2172A= (p.Gly724=)
21g.45476479A>CCA512709984COL18A1c.1467A>C (p.Gly489=)
c.927A>C (p.Gly309=)
c.2172A>C (p.Gly724=)
21g.45476479A>GCA10065989COL18A1c.1467A>G (p.Gly489=)
c.927A>G (p.Gly309=)
c.2172A>G (p.Gly724=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476479A>TCA512709987COL18A1c.1467A>T (p.Gly489=)
c.927A>T (p.Gly309=)
c.2172A>T (p.Gly724=)
21g.45476480G>ACA410514654COL18A1c.1468G>A (p.Ala490Thr)
c.928G>A (p.Ala310Thr)
c.2173G>A (p.Ala725Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476480G>CCA410514656COL18A1c.1468G>C (p.Ala490Pro)
c.928G>C (p.Ala310Pro)
c.2173G>C (p.Ala725Pro)
21g.45476480G=CA2392171642COL18A1c.1468G= (p.Ala490=)
c.928G= (p.Ala310=)
c.2173G= (p.Ala725=)
21g.45476480G>TCA410514657COL18A1c.1468G>T (p.Ala490Ser)
c.928G>T (p.Ala310Ser)
c.2173G>T (p.Ala725Ser)
21g.45476481G>ACA410514658COL18A1c.1468+1G>A (n.1468+1G>A)
c.928+1G>A (n.928+1G>A)
c.2173+1G>A (n.2173+1G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45476481G>CCA410514659COL18A1c.1468+1G>C (n.1468+1G>C)
c.928+1G>C (n.928+1G>C)
c.2173+1G>C (n.2173+1G>C)
21g.45476481G=CA2392171643COL18A1c.1468+1G= (n.1468+1G=)
c.928+1G= (n.928+1G=)
c.2173+1G= (n.2173+1G=)
21g.45476481G>TCA410514661COL18A1c.1468+1G>T (n.1468+1G>T)
c.928+1G>T (n.928+1G>T)
c.2173+1G>T (n.2173+1G>T)
21g.45476482T>ACA410514663COL18A1c.1468+2T>A (n.1468+2T>A)
c.928+2T>A (n.928+2T>A)
c.2173+2T>A (n.2173+2T>A)
21g.45476482T>CCA321913705COL18A1c.1468+2T>C (n.1468+2T>C)
c.928+2T>C (n.928+2T>C)
c.2173+2T>C (n.2173+2T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476482T>GCA410514664COL18A1c.1468+2T>G (n.1468+2T>G)
c.928+2T>G (n.928+2T>G)
c.2173+2T>G (n.2173+2T>G)
 dbSNP
21g.45476482T=CA2392171644COL18A1c.1468+2T= (n.1468+2T=)
c.928+2T= (n.928+2T=)
c.2173+2T= (n.2173+2T=)
21g.45476483A=CA2392171645COL18A1c.1468+3A= (n.1468+3A=)
c.928+3A= (n.928+3A=)
c.2173+3A= (n.2173+3A=)
21g.45476483A>GCA10065990COL18A1c.1468+3A>G (n.1468+3A>G)
c.928+3A>G (n.928+3A>G)
c.2173+3A>G (n.2173+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476484A=CA2392171646COL18A1c.1468+4A= (n.1468+4A=)
c.928+4A= (n.928+4A=)
c.2173+4A= (n.2173+4A=)
21g.45476484A>CCA2392171647COL18A1c.1468+4A>C (n.1468+4A>C)
c.928+4A>C (n.928+4A>C)
c.2173+4A>C (n.2173+4A>C)
 dbSNP
21g.45476484A>GCA2580098872COL18A1c.1468+4A>G (n.1468+4A>G)
c.928+4A>G (n.928+4A>G)
c.2173+4A>G (n.2173+4A>G)
 ClinVar gnomAD v4
21g.45476485G>ACA2654909377COL18A1c.1468+5G>A (n.1468+5G>A)
c.928+5G>A (n.928+5G>A)
c.2173+5G>A (n.2173+5G>A)
 gnomAD v4
21g.45476485G>CCA10065991COL18A1c.1468+5G>C (n.1468+5G>C)
c.928+5G>C (n.928+5G>C)
c.2173+5G>C (n.2173+5G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476485G=CA2392171648COL18A1c.1468+5G= (n.1468+5G=)
c.928+5G= (n.928+5G=)
c.2173+5G= (n.2173+5G=)
21g.45476486C>TCA2577626021COL18A1c.1468+6C>T (n.1468+6C>T)
c.928+6C>T (n.928+6C>T)
c.2173+6C>T (n.2173+6C>T)
 gnomAD v4
21g.45476488C>ACA2392171650COL18A1c.1468+8C>A (n.1468+8C>A)
c.928+8C>A (n.928+8C>A)
c.2173+8C>A (n.2173+8C>A)
 dbSNP gnomAD v4
21g.45476488C=CA2392171649COL18A1c.1468+8C= (n.1468+8C=)
c.928+8C= (n.928+8C=)
c.2173+8C= (n.2173+8C=)
21g.45476488C>GCA2580098874COL18A1c.1468+8C>G (n.1468+8C>G)
c.928+8C>G (n.928+8C>G)
c.2173+8C>G (n.2173+8C>G)
 ClinVar
21g.45476488C>TCA2499225988COL18A1c.1468+8C>T (n.1468+8C>T)
c.928+8C>T (n.928+8C>T)
c.2173+8C>T (n.2173+8C>T)
 ClinVar dbSNP

Number of alleles fetched