Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999385_188999470delCA2753572428COL3A1c.2022+2_2023del
c.2121+2_2122del
2g.188999469G>ACA349840501COL3A1c.2023-1G>A (n.2023-1G>A)
c.2122-1G>A (n.2122-1G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.188999469G>CCA349840500COL3A1c.2023-1G>C (n.2023-1G>C)
c.2122-1G>C (n.2122-1G>C)
2g.188999469G=CA1315400968COL3A1c.2023-1G= (n.2023-1G=)
c.2122-1G= (n.2122-1G=)
2g.188999469G>TCA349840499COL3A1c.2023-1G>T (n.2023-1G>T)
c.2122-1G>T (n.2122-1G>T)
2g.188999469_188999496delinsGGGTGCTGCTGGTCCTCCTGGGCCACCTCA1315400967COL3A1c.2023-1_2049delinsGGGTGCTGCTGGTCCTCCTGGGCCACCT
c.2122-1_2148delinsGGGTGCTGCTGGTCCTCCTGGGCCACCT
2g.188999470G>ACA349840505COL3A1c.2023G>A (p.Gly675Ser)
c.2122G>A (p.Gly708Ser)
 ClinVar dbSNP
2g.188999470G>CCA349840508COL3A1c.2023G>C (p.Gly675Arg)
c.2122G>C (p.Gly708Arg)
2g.188999470G>TCA349840509COL3A1c.2023G>T (p.Gly675Cys)
c.2122G>T (p.Gly708Cys)
2g.188999482_188999508delCA005057COL3A1c.2035_2061del (p.Pro679_Gly687del)
c.2134_2160del (p.Pro712_Gly720del)
 ClinVar dbSNP
2g.188999471G>ACA62554598COL3A1c.2024G>A (p.Gly675Asp)
c.2123G>A (p.Gly708Asp)
 ClinVar dbSNP
2g.188999471G>CCA16604062COL3A1c.2024G>C (p.Gly675Ala)
c.2123G>C (p.Gly708Ala)
 ClinVar dbSNP gnomAD v4
2g.188999471G=CA1315400969COL3A1c.2024G= (p.Gly675=)
c.2123G= (p.Gly708=)
2g.188999471G>TCA005071COL3A1c.2024G>T (p.Gly675Val)
c.2123G>T (p.Gly708Val)
 ClinVar dbSNP
2g.188999472T>ACA430310583COL3A1c.2025T>A (p.Gly675=)
c.2124T>A (p.Gly708=)
2g.188999472T>CCA430310584COL3A1c.2025T>C (p.Gly675=)
c.2124T>C (p.Gly708=)
2g.188999472T>GCA430310585COL3A1c.2025T>G (p.Gly675=)
c.2124T>G (p.Gly708=)
2g.188999473G>ACA349840519COL3A1c.2026G>A (p.Ala676Thr)
c.2125G>A (p.Ala709Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.188999473G>CCA349840523COL3A1c.2026G>C (p.Ala676Pro)
c.2125G>C (p.Ala709Pro)
2g.188999473G=CA1315400970COL3A1c.2026G= (p.Ala676=)
c.2125G= (p.Ala709=)
2g.188999473G>TCA075027COL3A1c.2026G>T (p.Ala676Ser)
c.2125G>T (p.Ala709Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999474C>ACA075030COL3A1c.2027C>A (p.Ala676Asp)
c.2126C>A (p.Ala709Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999474C=CA1315400971COL3A1c.2027C= (p.Ala676=)
c.2126C= (p.Ala709=)
2g.188999474C>GCA349840531COL3A1c.2027C>G (p.Ala676Gly)
c.2126C>G (p.Ala709Gly)
2g.188999474C>TCA349840534COL3A1c.2027C>T (p.Ala676Val)
c.2126C>T (p.Ala709Val)
2g.188999475T>ACA430310586COL3A1c.2028T>A (p.Ala676=)
c.2127T>A (p.Ala709=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999475T>CCA430310587COL3A1c.2028T>C (p.Ala676=)
c.2127T>C (p.Ala709=)
2g.188999475T>GCA430310588COL3A1c.2028T>G (p.Ala676=)
c.2127T>G (p.Ala709=)
2g.188999475T=CA1315400972COL3A1c.2028T= (p.Ala676=)
c.2127T= (p.Ala709=)
2g.188999476G>ACA349840540COL3A1c.2029G>A (p.Ala677Thr)
c.2128G>A (p.Ala710Thr)
 dbSNP
2g.188999476G>CCA349840542COL3A1c.2029G>C (p.Ala677Pro)
c.2128G>C (p.Ala710Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.188999476G=CA1315400973COL3A1c.2029G= (p.Ala677=)
c.2128G= (p.Ala710=)
2g.188999476G>TCA349840538COL3A1c.2029G>T (p.Ala677Ser)
c.2128G>T (p.Ala710Ser)
 gnomAD v4 COSMIC
2g.188999477C>ACA349840547COL3A1c.2030C>A (p.Ala677Asp)
c.2129C>A (p.Ala710Asp)
2g.188999477C>GCA349840545COL3A1c.2030C>G (p.Ala677Gly)
c.2129C>G (p.Ala710Gly)
2g.188999477C>TCA349840549COL3A1c.2030C>T (p.Ala677Val)
c.2129C>T (p.Ala710Val)
2g.188999478T>ACA430310589COL3A1c.2031T>A (p.Ala677=)
c.2130T>A (p.Ala710=)
 dbSNP
2g.188999478T>CCA430310590COL3A1c.2031T>C (p.Ala677=)
c.2130T>C (p.Ala710=)
2g.188999478T>GCA430310591COL3A1c.2031T>G (p.Ala677=)
c.2130T>G (p.Ala710=)
2g.188999478T=CA1315400974COL3A1c.2031T= (p.Ala677=)
c.2130T= (p.Ala710=)
2g.188999479G>ACA005078COL3A1c.2032G>A (p.Gly678Ser)
c.2131G>A (p.Gly711Ser)
 ClinVar dbSNP gnomAD v4
2g.188999479G>CCA349840553COL3A1c.2032G>C (p.Gly678Arg)
c.2131G>C (p.Gly711Arg)
2g.188999479G=CA1315400975COL3A1c.2032G= (p.Gly678=)
c.2131G= (p.Gly711=)
2g.188999479G>TCA349840554COL3A1c.2032G>T (p.Gly678Cys)
c.2131G>T (p.Gly711Cys)
2g.188999480G>ACA349840556COL3A1c.2033G>A (p.Gly678Asp)
c.2132G>A (p.Gly711Asp)
2g.188999480G>CCA349840558COL3A1c.2033G>C (p.Gly678Ala)
c.2132G>C (p.Gly711Ala)
2g.188999480G=CA1315400976COL3A1c.2033G= (p.Gly678=)
c.2132G= (p.Gly711=)
2g.188999480G>TCA005086COL3A1c.2033G>T (p.Gly678Val)
c.2132G>T (p.Gly711Val)
 ClinVar dbSNP
2g.188999481T>ACA430310592COL3A1c.2034T>A (p.Gly678=)
c.2133T>A (p.Gly711=)
2g.188999481T>CCA430310593COL3A1c.2034T>C (p.Gly678=)
c.2133T>C (p.Gly711=)
2g.188999481T>GCA430310594COL3A1c.2034T>G (p.Gly678=)
c.2133T>G (p.Gly711=)
2g.188999482C>ACA349840561COL3A1c.2035C>A (p.Pro679Thr)
c.2134C>A (p.Pro712Thr)
2g.188999482C=CA1315400978COL3A1c.2035C= (p.Pro679=)
c.2134C= (p.Pro712=)
2g.188999482C>GCA349840563COL3A1c.2035C>G (p.Pro679Ala)
c.2134C>G (p.Pro712Ala)
 gnomAD v4
2g.188999482C>TCA349840564COL3A1c.2035C>T (p.Pro679Ser)
c.2134C>T (p.Pro712Ser)
 ClinVar dbSNP gnomAD v4
2g.188999482_188999509delinsCCTCCTGGGCCACCTGGTGCTGCTGGTACA1315400977COL3A1c.2035_2062delinsCCTCCTGGGCCACCTGGTGCTGCTGGTA (p.Pro679=)
c.2134_2161delinsCCTCCTGGGCCACCTGGTGCTGCTGGTA (p.Pro712=)
2g.188999483C>ACA349840566COL3A1c.2036C>A (p.Pro679His)
c.2135C>A (p.Pro712His)
2g.188999483C=CA1315400979COL3A1c.2036C= (p.Pro679=)
c.2135C= (p.Pro712=)
2g.188999483C>GCA349840567COL3A1c.2036C>G (p.Pro679Arg)
c.2135C>G (p.Pro712Arg)
2g.188999483C>TCA075033COL3A1c.2036C>T (p.Pro679Leu)
c.2135C>T (p.Pro712Leu)
 ClinVar dbSNP ExAC gnomAD v2
2g.188999490_188999516delCA005106COL3A1c.2043_2069del (p.Pro682_Gly690del)
c.2142_2168del (p.Pro715_Gly723del)
 ClinVar dbSNP
2g.188999484T>ACA430310595COL3A1c.2037T>A (p.Pro679=)
c.2136T>A (p.Pro712=)
 ClinVar dbSNP
2g.188999484T>CCA430310596COL3A1c.2037T>C (p.Pro679=)
c.2136T>C (p.Pro712=)
2g.188999484T>GCA430310597COL3A1c.2037T>G (p.Pro679=)
c.2136T>G (p.Pro712=)
2g.188999485C>ACA349840572COL3A1c.2038C>A (p.Pro680Thr)
c.2137C>A (p.Pro713Thr)
2g.188999485C=CA1315400980COL3A1c.2038C= (p.Pro680=)
c.2137C= (p.Pro713=)
2g.188999485C>GCA349840569COL3A1c.2038C>G (p.Pro680Ala)
c.2137C>G (p.Pro713Ala)
2g.188999485C>TCA075036COL3A1c.2038C>T (p.Pro680Ser)
c.2137C>T (p.Pro713Ser)
 dbSNP ExAC gnomAD v2
2g.188999486C>ACA349840575COL3A1c.2039C>A (p.Pro680His)
c.2138C>A (p.Pro713His)
2g.188999486C=CA1315400981COL3A1c.2039C= (p.Pro680=)
c.2138C= (p.Pro713=)
2g.188999486C>GCA349840576COL3A1c.2039C>G (p.Pro680Arg)
c.2138C>G (p.Pro713Arg)
2g.188999486C>TCA349840577COL3A1c.2039C>T (p.Pro680Leu)
c.2138C>T (p.Pro713Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999487T>ACA430310598COL3A1c.2040T>A (p.Pro680=)
c.2139T>A (p.Pro713=)
2g.188999487T>CCA430310599COL3A1c.2040T>C (p.Pro680=)
c.2139T>C (p.Pro713=)
2g.188999487T>GCA430310600COL3A1c.2040T>G (p.Pro680=)
c.2139T>G (p.Pro713=)
2g.188999488G>ACA005093COL3A1c.2041G>A (p.Gly681Arg)
c.2140G>A (p.Gly714Arg)
 ClinVar dbSNP
2g.188999488G>CCA349840580COL3A1c.2041G>C (p.Gly681Arg)
c.2140G>C (p.Gly714Arg)
2g.188999488G=CA1315400982COL3A1c.2041G= (p.Gly681=)
c.2140G= (p.Gly714=)
2g.188999488G>TCA349840582COL3A1c.2041G>T (p.Gly681Trp)
c.2140G>T (p.Gly714Trp)
2g.188999489G>ACA005100COL3A1c.2042G>A (p.Gly681Glu)
c.2141G>A (p.Gly714Glu)
 ClinVar dbSNP gnomAD v4
2g.188999489G>CCA349840585COL3A1c.2042G>C (p.Gly681Ala)
c.2141G>C (p.Gly714Ala)
2g.188999489G=CA1315400983COL3A1c.2042G= (p.Gly681=)
c.2141G= (p.Gly714=)
2g.188999489G>TCA349840587COL3A1c.2042G>T (p.Gly681Val)
c.2141G>T (p.Gly714Val)
2g.188999490G>ACA075041COL3A1c.2043G>A (p.Gly681=)
c.2142G>A (p.Gly714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999490G>CCA430310601COL3A1c.2043G>C (p.Gly681=)
c.2142G>C (p.Gly714=)
2g.188999490G=CA1315400984COL3A1c.2043G= (p.Gly681=)
c.2142G= (p.Gly714=)
2g.188999490G>TCA430310602COL3A1c.2043G>T (p.Gly681=)
c.2142G>T (p.Gly714=)
2g.188999491C>ACA349840592COL3A1c.2044C>A (p.Pro682Thr)
c.2143C>A (p.Pro715Thr)
2g.188999491C>GCA349840591COL3A1c.2044C>G (p.Pro682Ala)
c.2143C>G (p.Pro715Ala)
2g.188999491C>TCA349840590COL3A1c.2044C>T (p.Pro682Ser)
c.2143C>T (p.Pro715Ser)
2g.188999492C>ACA349840593COL3A1c.2045C>A (p.Pro682Gln)
c.2144C>A (p.Pro715Gln)
2g.188999492C>GCA349840594COL3A1c.2045C>G (p.Pro682Arg)
c.2144C>G (p.Pro715Arg)
2g.188999492C>TCA349840595COL3A1c.2045C>T (p.Pro682Leu)
c.2144C>T (p.Pro715Leu)
 gnomAD v4
2g.188999493A>CCA430310605COL3A1c.2046A>C (p.Pro682=)
c.2145A>C (p.Pro715=)
 gnomAD v4
2g.188999493A>GCA430310604COL3A1c.2046A>G (p.Pro682=)
c.2145A>G (p.Pro715=)
2g.188999493A>TCA430310603COL3A1c.2046A>T (p.Pro682=)
c.2145A>T (p.Pro715=)
2g.188999494C>ACA349840596COL3A1c.2047C>A (p.Pro683Thr)
c.2146C>A (p.Pro716Thr)
2g.188999494C>GCA349840597COL3A1c.2047C>G (p.Pro683Ala)
c.2146C>G (p.Pro716Ala)
 gnomAD v4
2g.188999494C>TCA349840598COL3A1c.2047C>T (p.Pro683Ser)
c.2146C>T (p.Pro716Ser)
 ClinVar gnomAD v4
2g.188999495C>ACA349840599COL3A1c.2048C>A (p.Pro683His)
c.2147C>A (p.Pro716His)
2g.188999495C>GCA349840600COL3A1c.2048C>G (p.Pro683Arg)
c.2147C>G (p.Pro716Arg)
2g.188999495C>TCA349840601COL3A1c.2048C>T (p.Pro683Leu)
c.2147C>T (p.Pro716Leu)
2g.188999496T>ACA430310606COL3A1c.2049T>A (p.Pro683=)
c.2148T>A (p.Pro716=)
2g.188999496T>CCA075044COL3A1c.2049T>C (p.Pro683=)
c.2148T>C (p.Pro716=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999496T>GCA430310607COL3A1c.2049T>G (p.Pro683=)
c.2148T>G (p.Pro716=)
2g.188999496T=CA1315400985COL3A1c.2049T= (p.Pro683=)
c.2148T= (p.Pro716=)
2g.188999497G>ACA349840602COL3A1c.2050G>A (p.Gly684Ser)
c.2149G>A (p.Gly717Ser)
2g.188999497G>CCA349840603COL3A1c.2050G>C (p.Gly684Arg)
c.2149G>C (p.Gly717Arg)
 ClinVar
2g.188999497G=CA1315400986COL3A1c.2050G= (p.Gly684=)
c.2149G= (p.Gly717=)
2g.188999497G>TCA349840604COL3A1c.2050G>T (p.Gly684Cys)
c.2149G>T (p.Gly717Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.188999498G>ACA005121COL3A1c.2051G>A (p.Gly684Asp)
c.2150G>A (p.Gly717Asp)
 ClinVar dbSNP
2g.188999498G>CCA349840612COL3A1c.2051G>C (p.Gly684Ala)
c.2150G>C (p.Gly717Ala)
2g.188999498G=CA1315400987COL3A1c.2051G= (p.Gly684=)
c.2150G= (p.Gly717=)
2g.188999498G>TCA349840614COL3A1c.2051G>T (p.Gly684Val)
c.2150G>T (p.Gly717Val)
2g.188999499T>ACA430310610COL3A1c.2052T>A (p.Gly684=)
c.2151T>A (p.Gly717=)
2g.188999499T>CCA430310608COL3A1c.2052T>C (p.Gly684=)
c.2151T>C (p.Gly717=)
2g.188999499T>GCA430310609COL3A1c.2052T>G (p.Gly684=)
c.2151T>G (p.Gly717=)
2g.188999500G>ACA349840617COL3A1c.2053G>A (p.Ala685Thr)
c.2152G>A (p.Ala718Thr)
2g.188999500G>CCA349840619COL3A1c.2053G>C (p.Ala685Pro)
c.2152G>C (p.Ala718Pro)
2g.188999500G=CA1315400988COL3A1c.2053G= (p.Ala685=)
c.2152G= (p.Ala718=)
2g.188999500G>TCA075047COL3A1c.2053G>T (p.Ala685Ser)
c.2152G>T (p.Ala718Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999500_188999501delinsTTCA2499215537COL3A1c.2053_2054delinsTT (p.Ala685Phe)
c.2152_2153delinsTT (p.Ala718Phe)
 ClinVar dbSNP
2g.188999501C>ACA349840622COL3A1c.2054C>A (p.Ala685Asp)
c.2153C>A (p.Ala718Asp)
2g.188999501C=CA1315400989COL3A1c.2054C= (p.Ala685=)
c.2153C= (p.Ala718=)
2g.188999501C>GCA349840623COL3A1c.2054C>G (p.Ala685Gly)
c.2153C>G (p.Ala718Gly)
2g.188999501C>TCA075051COL3A1c.2054C>T (p.Ala685Val)
c.2153C>T (p.Ala718Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.188999502T>ACA430310611COL3A1c.2055T>A (p.Ala685=)
c.2154T>A (p.Ala718=)
2g.188999502T>CCA430310612COL3A1c.2055T>C (p.Ala685=)
c.2154T>C (p.Ala718=)
2g.188999502T>GCA430310613COL3A1c.2055T>G (p.Ala685=)
c.2154T>G (p.Ala718=)
2g.188999503G>ACA349840624COL3A1c.2056G>A (p.Ala686Thr)
c.2155G>A (p.Ala719Thr)
 ClinVar dbSNP gnomAD v4
2g.188999503G>CCA349840626COL3A1c.2056G>C (p.Ala686Pro)
c.2155G>C (p.Ala719Pro)
2g.188999503G=CA1315400990COL3A1c.2056G= (p.Ala686=)
c.2155G= (p.Ala719=)
2g.188999503G>TCA349840629COL3A1c.2056G>T (p.Ala686Ser)
c.2155G>T (p.Ala719Ser)
2g.188999504C>ACA349840633COL3A1c.2057C>A (p.Ala686Asp)
c.2156C>A (p.Ala719Asp)
2g.188999504C=CA1315400991COL3A1c.2057C= (p.Ala686=)
c.2156C= (p.Ala719=)
2g.188999504C>GCA349840635COL3A1c.2057C>G (p.Ala686Gly)
c.2156C>G (p.Ala719Gly)
 ClinVar dbSNP
2g.188999504C>TCA349840639COL3A1c.2057C>T (p.Ala686Val)
c.2156C>T (p.Ala719Val)
2g.188999505T>ACA430310616COL3A1c.2058T>A (p.Ala686=)
c.2157T>A (p.Ala719=)
2g.188999505T>CCA430310614COL3A1c.2058T>C (p.Ala686=)
c.2157T>C (p.Ala719=)
2g.188999505T>GCA430310615COL3A1c.2058T>G (p.Ala686=)
c.2157T>G (p.Ala719=)
2g.188999506G>ACA349840643COL3A1c.2059G>A (p.Gly687Ser)
c.2158G>A (p.Gly720Ser)
2g.188999506G>CCA349840644COL3A1c.2059G>C (p.Gly687Arg)
c.2158G>C (p.Gly720Arg)
2g.188999506G>TCA349840642COL3A1c.2059G>T (p.Gly687Cys)
c.2158G>T (p.Gly720Cys)
2g.188999507G>ACA349840649COL3A1c.2060G>A (p.Gly687Asp)
c.2159G>A (p.Gly720Asp)
 ClinVar dbSNP
2g.188999507G>CCA349840645COL3A1c.2060G>C (p.Gly687Ala)
c.2159G>C (p.Gly720Ala)
2g.188999507G=CA1315400992COL3A1c.2060G= (p.Gly687=)
c.2159G= (p.Gly720=)
2g.188999507G>TCA349840647COL3A1c.2060G>T (p.Gly687Val)
c.2159G>T (p.Gly720Val)
2g.188999508delCA2662309048COL3A1c.2061del (p.Thr688LeufsTer?)
c.2160del (p.Thr721LeufsTer?)
 gnomAD v4
2g.188999508T>ACA430310617COL3A1c.2061T>A (p.Gly687=)
c.2160T>A (p.Gly720=)
2g.188999508T>CCA430310618COL3A1c.2061T>C (p.Gly687=)
c.2160T>C (p.Gly720=)
2g.188999508T>GCA430310619COL3A1c.2061T>G (p.Gly687=)
c.2160T>G (p.Gly720=)
2g.188999509A>CCA349840653COL3A1c.2062A>C (p.Thr688Pro)
c.2161A>C (p.Thr721Pro)
2g.188999509A>GCA349840655COL3A1c.2062A>G (p.Thr688Ala)
c.2161A>G (p.Thr721Ala)
2g.188999509A>TCA349840658COL3A1c.2062A>T (p.Thr688Ser)
c.2161A>T (p.Thr721Ser)
2g.188999510C>ACA349840665COL3A1c.2063C>A (p.Thr688Asn)
c.2162C>A (p.Thr721Asn)
2g.188999510C>GCA349840663COL3A1c.2063C>G (p.Thr688Ser)
c.2162C>G (p.Thr721Ser)
2g.188999510C>TCA349840660COL3A1c.2063C>T (p.Thr688Ile)
c.2162C>T (p.Thr721Ile)
2g.188999511T>ACA430310620COL3A1c.2064T>A (p.Thr688=)
c.2163T>A (p.Thr721=)
2g.188999511T>CCA430310621COL3A1c.2064T>C (p.Thr688=)
c.2163T>C (p.Thr721=)
2g.188999511T>GCA430310622COL3A1c.2064T>G (p.Thr688=)
c.2163T>G (p.Thr721=)
2g.188999512C>ACA349840667COL3A1c.2065C>A (p.Pro689Thr)
c.2164C>A (p.Pro722Thr)
 gnomAD v4
2g.188999512C>GCA349840669COL3A1c.2065C>G (p.Pro689Ala)
c.2164C>G (p.Pro722Ala)
2g.188999512C>TCA349840671COL3A1c.2065C>T (p.Pro689Ser)
c.2164C>T (p.Pro722Ser)
2g.188999513C>ACA349840676COL3A1c.2066C>A (p.Pro689His)
c.2165C>A (p.Pro722His)
2g.188999513C>GCA349840677COL3A1c.2066C>G (p.Pro689Arg)
c.2165C>G (p.Pro722Arg)
2g.188999513C>TCA349840680COL3A1c.2066C>T (p.Pro689Leu)
c.2165C>T (p.Pro722Leu)
2g.188999514T>ACA430310623COL3A1c.2067T>A (p.Pro689=)
c.2166T>A (p.Pro722=)
2g.188999514T>CCA430310624COL3A1c.2067T>C (p.Pro689=)
c.2166T>C (p.Pro722=)
2g.188999514T>GCA430310625COL3A1c.2067T>G (p.Pro689=)
c.2166T>G (p.Pro722=)
2g.188999515G>ACA349840686COL3A1c.2068G>A (p.Gly690Ser)
c.2167G>A (p.Gly723Ser)
2g.188999515G>CCA349840691COL3A1c.2068G>C (p.Gly690Arg)
c.2167G>C (p.Gly723Arg)
2g.188999515G>TCA349840688COL3A1c.2068G>T (p.Gly690Cys)
c.2167G>T (p.Gly723Cys)
2g.188999516G>ACA005131COL3A1c.2069G>A (p.Gly690Asp)
c.2168G>A (p.Gly723Asp)
 ClinVar dbSNP
2g.188999516G>CCA349840694COL3A1c.2069G>C (p.Gly690Ala)
c.2168G>C (p.Gly723Ala)
2g.188999516G=CA1315400993COL3A1c.2069G= (p.Gly690=)
c.2168G= (p.Gly723=)
2g.188999516G>TCA349840696COL3A1c.2069G>T (p.Gly690Val)
c.2168G>T (p.Gly723Val)
2g.188999517T>ACA430310626COL3A1c.2070T>A (p.Gly690=)
c.2169T>A (p.Gly723=)
2g.188999517T>CCA430310627COL3A1c.2070T>C (p.Gly690=)
c.2169T>C (p.Gly723=)
2g.188999517T>GCA430310628COL3A1c.2070T>G (p.Gly690=)
c.2169T>G (p.Gly723=)
2g.188999518C>ACA349840698COL3A1c.2071C>A (p.Leu691Met)
c.2170C>A (p.Leu724Met)
2g.188999518C>GCA349840700COL3A1c.2071C>G (p.Leu691Val)
c.2170C>G (p.Leu724Val)
2g.188999518C>TCA430310629COL3A1c.2071C>T (p.Leu691=)
c.2170C>T (p.Leu724=)
2g.188999519T>ACA349840703COL3A1c.2072T>A (p.Leu691Gln)
c.2171T>A (p.Leu724Gln)
2g.188999519T>CCA349840705COL3A1c.2072T>C (p.Leu691Pro)
c.2171T>C (p.Leu724Pro)
2g.188999519T>GCA349840707COL3A1c.2072T>G (p.Leu691Arg)
c.2171T>G (p.Leu724Arg)
2g.188999520G>ACA430310630COL3A1c.2073G>A (p.Leu691=)
c.2172G>A (p.Leu724=)
 dbSNP gnomAD v4
2g.188999520G>CCA430310631COL3A1c.2073G>C (p.Leu691=)
c.2172G>C (p.Leu724=)
2g.188999520G=CA1315400994COL3A1c.2073G= (p.Leu691=)
c.2172G= (p.Leu724=)
2g.188999520G>TCA430310632COL3A1c.2073G>T (p.Leu691=)
c.2172G>T (p.Leu724=)
 gnomAD v4
2g.188999521C>ACA349840711COL3A1c.2074C>A (p.Gln692Lys)
c.2173C>A (p.Gln725Lys)
2g.188999521C>GCA349840713COL3A1c.2074C>G (p.Gln692Glu)
c.2173C>G (p.Gln725Glu)
2g.188999521C>TCA349840715COL3A1c.2074C>T (p.Gln692Ter)
c.2173C>T (p.Gln725Ter)
2g.188999522A>CCA349840721COL3A1c.2075A>C (p.Gln692Pro)
c.2174A>C (p.Gln725Pro)
 gnomAD v4
2g.188999522A>GCA349840720COL3A1c.2075A>G (p.Gln692Arg)
c.2174A>G (p.Gln725Arg)
2g.188999522A>TCA349840717COL3A1c.2075A>T (p.Gln692Leu)
c.2174A>T (p.Gln725Leu)
2g.188999523A=CA1315400995COL3A1c.2076A= (p.Gln692=)
c.2175A= (p.Gln725=)
2g.188999523A>CCA349840723COL3A1c.2076A>C (p.Gln692His)
c.2175A>C (p.Gln725His)
2g.188999523A>GCA62554653COL3A1c.2076A>G (p.Gln692=)
c.2175A>G (p.Gln725=)
 dbSNP
2g.188999523A>TCA349840725COL3A1c.2076A>T (p.Gln692His)
c.2175A>T (p.Gln725His)
2g.188999524G>ACA005140COL3A1c.2077G>A (p.Gly693Arg)
c.2176G>A (p.Gly726Arg)
 ClinVar dbSNP
2g.188999524G>CCA349840728COL3A1c.2077G>C (p.Gly693Arg)
c.2176G>C (p.Gly726Arg)
2g.188999524G=CA1315400996COL3A1c.2077G= (p.Gly693=)
c.2176G= (p.Gly726=)
2g.188999524G>TCA349840732COL3A1c.2077G>T (p.Gly693Ter)
c.2176G>T (p.Gly726Ter)
2g.188999525G>ACA005149COL3A1c.2078G>A (p.Gly693Glu)
c.2177G>A (p.Gly726Glu)
 ClinVar dbSNP COSMIC COSMIC
2g.188999525G>CCA349840736COL3A1c.2078G>C (p.Gly693Ala)
c.2177G>C (p.Gly726Ala)
2g.188999525G=CA1315400997COL3A1c.2078G= (p.Gly693=)
c.2177G= (p.Gly726=)
2g.188999525G>TCA349840738COL3A1c.2078G>T (p.Gly693Val)
c.2177G>T (p.Gly726Val)
2g.188999526A>CCA430310633COL3A1c.2079A>C (p.Gly693=)
c.2178A>C (p.Gly726=)
2g.188999526A>GCA430310635COL3A1c.2079A>G (p.Gly693=)
c.2178A>G (p.Gly726=)
2g.188999526A>TCA430310634COL3A1c.2079A>T (p.Gly693=)
c.2178A>T (p.Gly726=)
2g.188999527A>CCA349840739COL3A1c.2080A>C (p.Met694Leu)
c.2179A>C (p.Met727Leu)
2g.188999527A>GCA349840740COL3A1c.2080A>G (p.Met694Val)
c.2179A>G (p.Met727Val)
2g.188999527A>TCA349840741COL3A1c.2080A>T (p.Met694Leu)
c.2179A>T (p.Met727Leu)
2g.188999528T>ACA349840743COL3A1c.2081T>A (p.Met694Lys)
c.2180T>A (p.Met727Lys)
2g.188999528T>CCA349840745COL3A1c.2081T>C (p.Met694Thr)
c.2180T>C (p.Met727Thr)
2g.188999528T>GCA349840746COL3A1c.2081T>G (p.Met694Arg)
c.2180T>G (p.Met727Arg)
2g.188999529G>ACA349840754COL3A1c.2082G>A (p.Met694Ile)
c.2181G>A (p.Met727Ile)
 ClinVar dbSNP
2g.188999529G>CCA349840752COL3A1c.2082G>C (p.Met694Ile)
c.2181G>C (p.Met727Ile)
2g.188999529G>TCA349840750COL3A1c.2082G>T (p.Met694Ile)
c.2181G>T (p.Met727Ile)
 gnomAD v4
2g.188999529_188999530delinsGCCA1315400998COL3A1c.2082_2083delinsGC (p.Met694=)
c.2181_2182delinsGC (p.Met727=)
2g.188999530C>ACA349840755COL3A1c.2083C>A (p.Pro695Thr)
c.2182C>A (p.Pro728Thr)
2g.188999530C>GCA349840757COL3A1c.2083C>G (p.Pro695Ala)
c.2182C>G (p.Pro728Ala)
2g.188999530C>TCA349840759COL3A1c.2083C>T (p.Pro695Ser)
c.2182C>T (p.Pro728Ser)
2g.188999531delCA1315400999COL3A1c.2084del (p.Pro695LeufsTer?)
c.2183del (p.Pro728LeufsTer?)
 dbSNP
2g.188999531C>ACA349840762COL3A1c.2084C>A (p.Pro695His)
c.2183C>A (p.Pro728His)
2g.188999531C>GCA349840764COL3A1c.2084C>G (p.Pro695Arg)
c.2183C>G (p.Pro728Arg)
2g.188999531C>TCA349840765COL3A1c.2084C>T (p.Pro695Leu)
c.2183C>T (p.Pro728Leu)
2g.188999532T>ACA430310637COL3A1c.2085T>A (p.Pro695=)
c.2184T>A (p.Pro728=)
2g.188999532T>CCA430310639COL3A1c.2085T>C (p.Pro695=)
c.2184T>C (p.Pro728=)
2g.188999532T>GCA430310641COL3A1c.2085T>G (p.Pro695=)
c.2184T>G (p.Pro728=)
2g.188999533G>ACA005157COL3A1c.2086G>A (p.Gly696Arg)
c.2185G>A (p.Gly729Arg)
 ClinVar dbSNP
2g.188999533G>CCA349840767COL3A1c.2086G>C (p.Gly696Arg)
c.2185G>C (p.Gly729Arg)
2g.188999533G=CA1315401000COL3A1c.2086G= (p.Gly696=)
c.2185G= (p.Gly729=)
2g.188999533G>TCA349840769COL3A1c.2086G>T (p.Gly696Ter)
c.2185G>T (p.Gly729Ter)
2g.188999534G>ACA005164COL3A1c.2087G>A (p.Gly696Glu)
c.2186G>A (p.Gly729Glu)
 ClinVar dbSNP
2g.188999534G>CCA349840773COL3A1c.2087G>C (p.Gly696Ala)
c.2186G>C (p.Gly729Ala)
 ClinVar
2g.188999534G=CA1315401001COL3A1c.2087G= (p.Gly696=)
c.2186G= (p.Gly729=)
2g.188999534G>TCA349840774COL3A1c.2087G>T (p.Gly696Val)
c.2186G>T (p.Gly729Val)
2g.188999535delCA2586965489COL3A1c.2088del (p.Glu697LysfsTer?)
c.2187del (p.Glu730LysfsTer?)
2g.188999535A=CA1315401002COL3A1c.2088A= (p.Gly696=)
c.2187A= (p.Gly729=)
2g.188999535A>CCA430310642COL3A1c.2088A>C (p.Gly696=)
c.2187A>C (p.Gly729=)
2g.188999535A>GCA075059COL3A1c.2088A>G (p.Gly696=)
c.2187A>G (p.Gly729=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999535A>TCA430310644COL3A1c.2088A>T (p.Gly696=)
c.2187A>T (p.Gly729=)
2g.188999536G>ACA62554673COL3A1c.2089G>A (p.Glu697Lys)
c.2188G>A (p.Glu730Lys)
 dbSNP
2g.188999536G>CCA349840778COL3A1c.2089G>C (p.Glu697Gln)
c.2188G>C (p.Glu730Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999536G=CA1315401003COL3A1c.2089G= (p.Glu697=)
c.2188G= (p.Glu730=)
2g.188999536G>TCA349840775COL3A1c.2089G>T (p.Glu697Ter)
c.2188G>T (p.Glu730Ter)
 ClinVar
2g.188999537A>CCA349840786COL3A1c.2090A>C (p.Glu697Ala)
c.2189A>C (p.Glu730Ala)
2g.188999537A>GCA349840788COL3A1c.2090A>G (p.Glu697Gly)
c.2189A>G (p.Glu730Gly)
2g.188999537A>TCA349840787COL3A1c.2090A>T (p.Glu697Val)
c.2189A>T (p.Glu730Val)
2g.188999538A>CCA349840790COL3A1c.2091A>C (p.Glu697Asp)
c.2190A>C (p.Glu730Asp)
2g.188999538A>GCA430310647COL3A1c.2091A>G (p.Glu697=)
c.2190A>G (p.Glu730=)
2g.188999538A>TCA349840794COL3A1c.2091A>T (p.Glu697Asp)
c.2190A>T (p.Glu730Asp)
 ClinVar dbSNP
2g.188999539A>CCA430310648COL3A1c.2092A>C (p.Arg698=)
c.2191A>C (p.Arg731=)
2g.188999539A>GCA349840795COL3A1c.2092A>G (p.Arg698Gly)
c.2191A>G (p.Arg731Gly)
2g.188999539A>TCA349840797COL3A1c.2092A>T (p.Arg698Ter)
c.2191A>T (p.Arg731Ter)
2g.188999540G>ACA349840800COL3A1c.2093G>A (p.Arg698Lys)
c.2192G>A (p.Arg731Lys)
 COSMIC
2g.188999540G>CCA349840802COL3A1c.2093G>C (p.Arg698Thr)
c.2192G>C (p.Arg731Thr)
2g.188999540G>TCA349840806COL3A1c.2093G>T (p.Arg698Ile)
c.2192G>T (p.Arg731Ile)
2g.188999544_188999546delCA2662309049COL3A1c.2097_2099del (p.Gly700del)
c.2196_2198del (p.Gly733del)
 gnomAD v4
2g.188999541A>CCA349840808COL3A1c.2094A>C (p.Arg698Ser)
c.2193A>C (p.Arg731Ser)
2g.188999541A>GCA430310652COL3A1c.2094A>G (p.Arg698=)
c.2193A>G (p.Arg731=)
2g.188999541A>TCA349840810COL3A1c.2094A>T (p.Arg698Ser)
c.2193A>T (p.Arg731Ser)
2g.188999542G>ACA005171COL3A1c.2095G>A (p.Gly699Arg)
c.2194G>A (p.Gly732Arg)
 ClinVar dbSNP
2g.188999542G>CCA349840814COL3A1c.2095G>C (p.Gly699Arg)
c.2194G>C (p.Gly732Arg)
2g.188999542G=CA1315401004COL3A1c.2095G= (p.Gly699=)
c.2194G= (p.Gly732=)
2g.188999542G>TCA349840815COL3A1c.2095G>T (p.Gly699Ter)
c.2194G>T (p.Gly732Ter)
2g.188999543G>ACA349840818COL3A1c.2096G>A (p.Gly699Glu)
c.2195G>A (p.Gly732Glu)
2g.188999543G>CCA349840819COL3A1c.2096G>C (p.Gly699Ala)
c.2195G>C (p.Gly732Ala)
2g.188999543G>TCA349840822COL3A1c.2096G>T (p.Gly699Val)
c.2195G>T (p.Gly732Val)
 gnomAD v4
2g.188999544A>CCA430310654COL3A1c.2097A>C (p.Gly699=)
c.2196A>C (p.Gly732=)
 gnomAD v4
2g.188999544A>GCA430310655COL3A1c.2097A>G (p.Gly699=)
c.2196A>G (p.Gly732=)
2g.188999544A>TCA430310656COL3A1c.2097A>T (p.Gly699=)
c.2196A>T (p.Gly732=)
2g.188999545G>ACA349840829COL3A1c.2098G>A (p.Gly700Ser)
c.2197G>A (p.Gly733Ser)
 gnomAD v4
2g.188999545G>CCA349840828COL3A1c.2098G>C (p.Gly700Arg)
c.2197G>C (p.Gly733Arg)
2g.188999545G>TCA349840825COL3A1c.2098G>T (p.Gly700Cys)
c.2197G>T (p.Gly733Cys)
2g.188999546G>ACA349840833COL3A1c.2099G>A (p.Gly700Asp)
c.2198G>A (p.Gly733Asp)
 gnomAD v4
2g.188999546G>CCA349840836COL3A1c.2099G>C (p.Gly700Ala)
c.2198G>C (p.Gly733Ala)
2g.188999546G>TCA349840842COL3A1c.2099G>T (p.Gly700Val)
c.2198G>T (p.Gly733Val)
2g.188999547delCA2580065310COL3A1c.2100del (p.Gly702GlufsTer?)
c.2199del (p.Gly735GlufsTer?)
 ClinVar
2g.188999547T>ACA430310658COL3A1c.2100T>A (p.Gly700=)
c.2199T>A (p.Gly733=)
 dbSNP
2g.188999547T>CCA075062COL3A1c.2100T>C (p.Gly700=)
c.2199T>C (p.Gly733=)
 ClinVar dbSNP ExAC gnomAD v4
2g.188999547T>GCA430310660COL3A1c.2100T>G (p.Gly700=)
c.2199T>G (p.Gly733=)
2g.188999547T=CA1315401005COL3A1c.2100T= (p.Gly700=)
c.2199T= (p.Gly733=)
2g.188999547_188999548delinsATCA2586965490COL3A1c.2100_2101delinsAT (p.Leu701Phe)
c.2199_2200delinsAT (p.Leu734Phe)
2g.188999548C>ACA349840846COL3A1c.2101C>A (p.Leu701Ile)
c.2200C>A (p.Leu734Ile)
2g.188999548C=CA1315401006COL3A1c.2101C= (p.Leu701=)
c.2200C= (p.Leu734=)
2g.188999548C>GCA349840847COL3A1c.2101C>G (p.Leu701Val)
c.2200C>G (p.Leu734Val)
2g.188999548C>TCA62554680COL3A1c.2101C>T (p.Leu701Phe)
c.2200C>T (p.Leu734Phe)
 dbSNP gnomAD v4
2g.188999549T>ACA349840848COL3A1c.2102T>A (p.Leu701His)
c.2201T>A (p.Leu734His)
2g.188999549T>CCA349840854COL3A1c.2102T>C (p.Leu701Pro)
c.2201T>C (p.Leu734Pro)
2g.188999549T>GCA349840857COL3A1c.2102T>G (p.Leu701Arg)
c.2201T>G (p.Leu734Arg)
2g.188999550T>ACA430310661COL3A1c.2103T>A (p.Leu701=)
c.2202T>A (p.Leu734=)
2g.188999550T>CCA430310663COL3A1c.2103T>C (p.Leu701=)
c.2202T>C (p.Leu734=)
 gnomAD v4
2g.188999550T>GCA430310664COL3A1c.2103T>G (p.Leu701=)
c.2202T>G (p.Leu734=)
2g.188999551G>ACA005179COL3A1c.2104G>A (p.Gly702Arg)
c.2203G>A (p.Gly735Arg)
 ClinVar dbSNP
2g.188999551G>CCA349840861COL3A1c.2104G>C (p.Gly702Arg)
c.2203G>C (p.Gly735Arg)
2g.188999551G=CA1315401007COL3A1c.2104G= (p.Gly702=)
c.2203G= (p.Gly735=)
2g.188999551G>TCA349840863COL3A1c.2104G>T (p.Gly702Ter)
c.2203G>T (p.Gly735Ter)
2g.188999552G>ACA349840871COL3A1c.2105G>A (p.Gly702Glu)
c.2204G>A (p.Gly735Glu)
 COSMIC COSMIC
2g.188999552G>CCA349840870COL3A1c.2105G>C (p.Gly702Ala)
c.2204G>C (p.Gly735Ala)
2g.188999552G>TCA349840868COL3A1c.2105G>T (p.Gly702Val)
c.2204G>T (p.Gly735Val)
2g.188999553A=CA1315401008COL3A1c.2106A= (p.Gly702=)
c.2205A= (p.Gly735=)
2g.188999553A>CCA430310669COL3A1c.2106A>C (p.Gly702=)
c.2205A>C (p.Gly735=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999553A>GCA430310668COL3A1c.2106A>G (p.Gly702=)
c.2205A>G (p.Gly735=)
2g.188999553A>TCA430310667COL3A1c.2106A>T (p.Gly702=)
c.2205A>T (p.Gly735=)
2g.188999554A>CCA349840879COL3A1c.2107A>C (p.Ser703Arg)
c.2206A>C (p.Ser736Arg)
2g.188999554A>GCA349840875COL3A1c.2107A>G (p.Ser703Gly)
c.2206A>G (p.Ser736Gly)
2g.188999554A>TCA349840878COL3A1c.2107A>T (p.Ser703Cys)
c.2206A>T (p.Ser736Cys)
2g.188999555G>ACA349840883COL3A1c.2108G>A (p.Ser703Asn)
c.2207G>A (p.Ser736Asn)
 COSMIC COSMIC
2g.188999555G>CCA349840892COL3A1c.2108G>C (p.Ser703Thr)
c.2207G>C (p.Ser736Thr)
2g.188999555G>TCA349840896COL3A1c.2108G>T (p.Ser703Ile)
c.2207G>T (p.Ser736Ile)
2g.188999556T>ACA349840898COL3A1c.2109T>A (p.Ser703Arg)
c.2208T>A (p.Ser736Arg)
2g.188999556T>CCA430310731COL3A1c.2109T>C (p.Ser703=)
c.2208T>C (p.Ser736=)
2g.188999556T>GCA349840899COL3A1c.2109T>G (p.Ser703Arg)
c.2208T>G (p.Ser736Arg)
2g.188999557C>ACA349840901COL3A1c.2110C>A (p.Pro704Thr)
c.2209C>A (p.Pro737Thr)
2g.188999557C>GCA349840904COL3A1c.2110C>G (p.Pro704Ala)
c.2209C>G (p.Pro737Ala)
2g.188999557C>TCA349840906COL3A1c.2110C>T (p.Pro704Ser)
c.2209C>T (p.Pro737Ser)
2g.188999558C>ACA349840909COL3A1c.2111C>A (p.Pro704His)
c.2210C>A (p.Pro737His)
2g.188999558C=CA1315401009COL3A1c.2111C= (p.Pro704=)
c.2210C= (p.Pro737=)
2g.188999558C>GCA62554684COL3A1c.2111C>G (p.Pro704Arg)
c.2210C>G (p.Pro737Arg)
 dbSNP gnomAD v4
2g.188999558C>TCA349840911COL3A1c.2111C>T (p.Pro704Leu)
c.2210C>T (p.Pro737Leu)
2g.188999559T>ACA430310733COL3A1c.2112T>A (p.Pro704=)
c.2211T>A (p.Pro737=)
 COSMIC COSMIC
2g.188999559T>CCA430310735COL3A1c.2112T>C (p.Pro704=)
c.2211T>C (p.Pro737=)
2g.188999559T>GCA430310734COL3A1c.2112T>G (p.Pro704=)
c.2211T>G (p.Pro737=)
2g.188999560G>ACA005185COL3A1c.2113G>A (p.Gly705Ser)
c.2212G>A (p.Gly738Ser)
 ClinVar dbSNP
2g.188999560G>CCA349840914COL3A1c.2113G>C (p.Gly705Arg)
c.2212G>C (p.Gly738Arg)
 ClinVar
2g.188999560G=CA1315401010COL3A1c.2113G= (p.Gly705=)
c.2212G= (p.Gly738=)
2g.188999560G>TCA005193COL3A1c.2113G>T (p.Gly705Cys)
c.2212G>T (p.Gly738Cys)
 ClinVar dbSNP
2g.188999561G>ACA349840921COL3A1c.2114G>A (p.Gly705Asp)
c.2213G>A (p.Gly738Asp)
2g.188999561G>CCA349840923COL3A1c.2114G>C (p.Gly705Ala)
c.2213G>C (p.Gly738Ala)
2g.188999561G=CA1315401011COL3A1c.2114G= (p.Gly705=)
c.2213G= (p.Gly738=)
2g.188999561G>TCA005201COL3A1c.2114G>T (p.Gly705Val)
c.2213G>T (p.Gly738Val)
 ClinVar dbSNP
2g.188999562T>ACA430310739COL3A1c.2115T>A (p.Gly705=)
c.2214T>A (p.Gly738=)
2g.188999562T>CCA430310740COL3A1c.2115T>C (p.Gly705=)
c.2214T>C (p.Gly738=)
2g.188999562T>GCA430310741COL3A1c.2115T>G (p.Gly705=)
c.2214T>G (p.Gly738=)
2g.188999563C>ACA349840928COL3A1c.2116C>A (p.Pro706Thr)
c.2215C>A (p.Pro739Thr)
 gnomAD v4
2g.188999563C>GCA349840930COL3A1c.2116C>G (p.Pro706Ala)
c.2215C>G (p.Pro739Ala)
2g.188999563C>TCA349840932COL3A1c.2116C>T (p.Pro706Ser)
c.2215C>T (p.Pro739Ser)
2g.188999564C>ACA349840934COL3A1c.2117C>A (p.Pro706Gln)
c.2216C>A (p.Pro739Gln)
2g.188999564C=CA1315401012COL3A1c.2117C= (p.Pro706=)
c.2216C= (p.Pro739=)
2g.188999564C>GCA349840937COL3A1c.2117C>G (p.Pro706Arg)
c.2216C>G (p.Pro739Arg)
2g.188999564C>TCA349840938COL3A1c.2117C>T (p.Pro706Leu)
c.2216C>T (p.Pro739Leu)
 dbSNP gnomAD v2
2g.188999565A>CCA430310743COL3A1c.2118A>C (p.Pro706=)
c.2217A>C (p.Pro739=)
2g.188999565A>GCA430310744COL3A1c.2118A>G (p.Pro706=)
c.2217A>G (p.Pro739=)
2g.188999565A>TCA430310745COL3A1c.2118A>T (p.Pro706=)
c.2217A>T (p.Pro739=)
2g.188999566A>CCA349840942COL3A1c.2119A>C (p.Lys707Gln)
c.2218A>C (p.Lys740Gln)
2g.188999566A>GCA349840944COL3A1c.2119A>G (p.Lys707Glu)
c.2218A>G (p.Lys740Glu)
2g.188999566A>TCA349840946COL3A1c.2119A>T (p.Lys707Ter)
c.2218A>T (p.Lys740Ter)
2g.188999567A>CCA349840953COL3A1c.2120A>C (p.Lys707Thr)
c.2219A>C (p.Lys740Thr)
2g.188999567A>GCA349840956COL3A1c.2120A>G (p.Lys707Arg)
c.2219A>G (p.Lys740Arg)
2g.188999567A>TCA349840951COL3A1c.2120A>T (p.Lys707Met)
c.2219A>T (p.Lys740Met)
2g.188999568G>ACA10581906COL3A1c.2121G>A (p.Lys707=)
c.2220G>A (p.Lys740=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999568G>CCA349840961COL3A1c.2121G>C (p.Lys707Asn)
c.2220G>C (p.Lys740Asn)
2g.188999568G=CA1315401013COL3A1c.2121G= (p.Lys707=)
c.2220G= (p.Lys740=)
2g.188999568G>TCA075065COL3A1c.2121G>T (p.Lys707Asn)
c.2220G>T (p.Lys740Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.188999569G>ACA005209COL3A1c.2122G>A (p.Gly708Ser)
c.2221G>A (p.Gly741Ser)
 ClinVar dbSNP COSMIC COSMIC
2g.188999569G>CCA349840967COL3A1c.2122G>C (p.Gly708Arg)
c.2221G>C (p.Gly741Arg)
2g.188999569G=CA1315401014COL3A1c.2122G= (p.Gly708=)
c.2221G= (p.Gly741=)
2g.188999569G>TCA349840969COL3A1c.2122G>T (p.Gly708Cys)
c.2221G>T (p.Gly741Cys)
 ClinVar dbSNP

Number of alleles fetched