COL3A1, GLY373ARG


NC_000002.11:g.(?_189839196)_(189839314_?)dup


NG_007404.1:g.31358_38084del


NG_007404.1:g.32133_36640del


NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg)

rs794728040 
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg)

rs587779419 
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val)

rs587779498 
NM_000090.3(COL3A1):c.1069_1070insACCCTGCAG (p.Gly357_Ser358insAspProAla)

rs587779579 
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser)

rs587779499 
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg)

rs587779696 
NM_000090.3(COL3A1):c.1100_1117del (p.Gln367_Gly372del)

rs587779525 
NM_000090.3(COL3A1):c.1105_1107delGGA (p.Gly369del)

rs587779686 
NM_000090.3(COL3A1):c.1106G>A (p.Gly369Glu)

rs1057521930 
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val)

rs587779547 
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu)

rs587779569 
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp)

rs587779544 
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del)

rs587779443 
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del)

rs587779443 
NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del)

rs587779538 
NM_000090.3(COL3A1):c.11501G>C (p.Gly384_Met398del)

rs587779520 
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del)

rs587779430 
NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del)

rs587779459 
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del)

rs587779459 
NM_000090.3(COL3A1):c.1222G>A (p.Gly408Arg)

rs1064794552 
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg)

rs587779534 
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys)

rs587779485 
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg)

rs587779637 
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser)

rs587779692 
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser)

rs587779631 
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp)

rs587779586 
NM_000090.3(COL3A1):c.1282C>T (p.Arg428Ter)

rs1576465155 
NM_000090.3(COL3A1):c.12943T>G (p.Gly432_Arg449del)

rs587779496 
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg)

rs587779489 
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg)

rs587779489 
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)

rs397509370 
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)

rs397509370 
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)

rs587779453 
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)

rs587779721 
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter)

rs1559052609 
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp)

rs587779621 
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser)

rs587779633 
NM_000090.3(COL3A1):c.1410del (p.Gly471fs)

rs587779665 
NM_000090.3(COL3A1):c.145610T>G (p.Arg485_Gly486insTyrPheGln)

rs587779701 
NM_000090.3(COL3A1):c.145613_1499del (p.Gly486_Lys503del)

rs1553508025 
NM_000090.3(COL3A1):c.145C>G (p.Pro49Ala)

rs1234344050 
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu)

rs587779476 
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter)

rs1057518075 
NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu)

rs587779500 
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val)

rs587779500 
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg)

rs587779523 
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu)

rs1559056621 
NM_000090.3(COL3A1):c.1509+224_151071delinsNM_000090.3:c.799118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)


NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val)

rs587779632 
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu)

rs587779693 
NM_000090.3(COL3A1):c.1610delG

rs587779702 
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg)

rs587779584 
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu)

rs587779679 
NM_000090.3(COL3A1):c.1652del (p.Pro551fs)

rs1060500199 
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)

rs121912928 
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del)

rs587779535 
NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del)

rs587779535 
NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del)

rs587779535 
NM_000090.3(COL3A1):c.1662+2dup

rs587779537 
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)

rs375737772 
NM_000090.3(COL3A1):c.1701_2391+367del (p.Gly555_Pro797del)


NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser)

rs121912923 
NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg)

rs121912923 
NM_000090.3(COL3A1):c.1761+15_1870100del (p.Gly588_Thr623del)


NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del)

rs587779530 
NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del)

rs587779530 
NM_000090.3(COL3A1):c.1761+4_1761+5del

rs1559057346 
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del)

rs397509372 
NM_000090.3(COL3A1):c.1761+5G>T

rs397509372 
NM_000090.3(COL3A1):c.17622A>G (p.Gly588_Gln605del)

rs587779722 
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp)

rs587779691 
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer)

rs587779510 
NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs)

rs587779608 
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter)

rs587779527 
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp)

rs587779477 
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val)

rs587779477 
NM_000090.3(COL3A1):c.1808del (p.Gly603fs)

rs587779594 
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg)

rs587779613 
NM_000090.3(COL3A1):c.1831_1832del (p.Asn611fs)

rs587779462 
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu)

rs587779634 
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg)

rs587779616 
NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp)

rs587779616 
NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu)

rs587779539 
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val)

rs587779539 
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del)

rs587779600 
NM_000090.3(COL3A1):c.1869+5G>A

rs397509376 
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del)

rs397509376 
NM_000090.3(COL3A1):c.18702A>G (p.Gly624_Gln641del)

rs587779575 
NM_000090.3(COL3A1):c.18702A>T (p.Gly624_Gln641del)

rs587779575 
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu)

rs587779611 
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg)

rs587779522 
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg)

rs587779435 
NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg)

rs587779435 
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu)

rs587779421 
NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del)

rs587779573 
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del)

rs587779573 
NM_000090.3(COL3A1):c.1923+2_1923+5del (p.Gly624_Gln641del)

rs786200946 
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val)

rs587779661 
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu)

rs587779620 
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu)

rs587779699 
NM_000090.3(COL3A1):c.1974_1977+4del

rs587779475 
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del)

rs587779603 
NM_000090.3(COL3A1):c.19786_1981del (p.Gly660_Lys662del)

rs587779700 
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp)

rs587779493 
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg)

rs587779433 
NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp)

rs587779454 
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val)

rs587779454 
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp)

rs121912921 
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)

rs587779429 
NM_000090.3(COL3A1):c.2022G>A (p.Lys674=)

rs587779643 
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn)

rs587779643 
NM_000090.3(COL3A1):c.20231G>A (p.Gly675Valfs*116)

rs587779708 
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val)

rs587779597 
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu)

rs587779587 
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val)

rs587779587 
NM_000090.3(COL3A1):c.2057del (p.Pro686fs)

rs1559058482 
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg)

rs587779577 
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg)

rs587779474 
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val)

rs587779458 
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala)

rs587779442 
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp)

rs587779591 
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg)

rs587779668 
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp)

rs587779706 
NM_000090.3(COL3A1):c.2096G>T (p.Gly699Val)

rs587779706 
NM_000090.3(COL3A1):c.2102del (p.Pro701fs)

rs1559058551 
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp)

rs587779512 
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val)

rs587779512 
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg)

rs587779623 
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu)

rs587779460 
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del)

rs587779675 
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val)

rs111929073 
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser)

rs587779695 
NM_000090.3(COL3A1):c.2134_2160del (p.Pro712_Gly720del)

rs587779560 
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg)

rs587779437 
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu)

rs587779678 
NM_000090.3(COL3A1):c.2142_2168del (p.Pro715_Gly723del)

rs587779657 
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp)

rs587779549 
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp)

rs587779581 
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg)

rs587779638 
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu)

rs587779698 
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg)

rs587779543 
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu)

rs587779680 
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg)

rs587779606 
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg)

rs587779484 
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser)

rs121912925 
NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys)

rs121912925 
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val)

rs587779615 
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser)

rs587779685 
NM_000090.3(COL3A1):c.2221G>T (p.Gly741Cys)

rs587779685 
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp)

rs553203474 
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val)

rs587779697 
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp)

rs587779418 
NM_000090.3(COL3A1):c.2284109_3489del (p.Gly762_Glu1175del)


NM_000090.3(COL3A1):c.22842A>G (p.Gly762_Lys779del)

rs587779558 
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg)

rs587779694 
NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp)

rs587779541 
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val)

rs587779541 
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser)

rs587779630 
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val)

rs587779492 
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del)

rs587779663 
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del)

rs587779513 
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=)

rs587779461 
NM_000090.3(COL3A1):c.23382A>G

rs794728050 
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg)

rs113485686 
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val)

rs587779564 
NM_000090.3(COL3A1):c.23922A>C

rs1553508957 
NM_000090.3(COL3A1):c.23923_2395del

rs1559059873 
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp)

rs587779689 
NM_000090.3(COL3A1):c.2410G>A (p.Gly804Ser)

rs121912920 
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser)

rs397509369 
NM_000090.3(COL3A1):c.2445+2dup

rs587779572 
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del)

rs587779636 
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp)

rs587779486 
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del)

rs397509374 
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp)

rs587779642 
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp)

rs587779526 
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs)

rs587779653 
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del)

rs587779664 
NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del)

rs587779664 
NM_000090.3(COL3A1):c.2553+1del

rs587779514 
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del)

rs587779684 
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del)

rs587779713 
NM_000090.3(COL3A1):c.2553+5G>T

rs397509371 
NM_000090.3(COL3A1):c.25541G>A (p.Gly852Valfs*384)

rs587779519 
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys)

rs587779690 
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp)

rs587779494 
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp)

rs587779466 
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter)

rs1559060412 
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val)

rs587779717 
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp)

rs587779417 
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del)

rs587779457 
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del)

rs587779457 
NM_000090.3(COL3A1):c.2608?_3255+?del (p.Gly870_Pro1085del)


NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val)

rs587779645 
NM_000090.3(COL3A1):c.2642del (p.Pro881fs)

rs886038920 
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp)

rs587779622 
NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2)

rs587779590 
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala)

rs587779589 
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp)

rs587779599 
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu)

rs587779505 
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val)

rs587779483 
NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp)

rs587779716 
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu)

rs587779662 
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser)

rs587779471 
NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys)

rs587779471 
NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp)

rs587779450 
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val)

rs587779450 
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp)

rs587779432 
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg)

rs587779566 
NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser)

rs587779550 
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys)

rs587779550 
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28)

rs587779424 
NM_000090.3(COL3A1):c.28241G>A (p.Gly942Glufs*294)

rs587779617 
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg)

rs587779438 
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu)

rs587779517 
NM_000090.3(COL3A1):c.2828del (p.Ala943fs)

rs1553509208 
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser)

rs587779567 
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg)

rs587779447 
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg)

rs587779674 
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu)

rs587779434 
NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys)

rs121912913 
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp)

rs587779654 
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val)

rs587779654 
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val)

rs121912922 
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg)

rs587779640 
NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys)

rs587779640 
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp)

rs587779511 
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val)

rs587779571 
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg)

rs587779580 
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)

rs587779723 
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp)

rs587779559 
NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala)

rs587779559 
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val)

rs587779542 
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del)

rs397509373 
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp)

rs587779595 
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter)

rs587779488 
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg)

rs587779449 
NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg)

rs587779449 
NM_000090.3(COL3A1):c.2950_2951delinsAC (p.Gly984Thr)

rs1559061242 
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser)

rs587779583 
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys)

rs587779416 
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp)

rs587779456 
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu)

rs587779576 
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser)

rs587779548 
NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg)

rs587779548 
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp)

rs587779659 
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu)

rs587779552 
NM_000090.3(COL3A1):c.3039+154_3525+223del


NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ)

rs587779506 
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ)

rs587779568 
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ)

rs587779532 
NM_000090.3(COL3A1):c.3040127_3255+107del


NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu)

rs121912916 
NM_000090.3(COL3A1):c.3062_3064del (p.Leu1021del)

rs587779529 
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter)

rs587779479 
NM_000090.3(COL3A1):c.3093+1G>A

rs869312034 
NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del)

rs587779503 
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del)

rs587779503 
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val)

rs587779428 
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter)

rs587779677 
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys)

rs587779704 
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val)

rs587779582 
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg)

rs1559061706 
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val)

rs587779491 
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp)

rs587779545 
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp)

rs121912914 
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val)

rs121912914 
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg)

rs587779651 
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp)

rs587779540 
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val)

rs587779619 
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg)

rs587779563 
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu)

rs1553509430 
NM_000090.3(COL3A1):c.32022A>G (p.Gly1068_Pro1085del)

rs587779682 
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val)

rs587779551 
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val)

rs587779709 
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser)

rs587779554 
NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del)

rs587779509 
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val)

rs121912915 
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp)

rs587779469 
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del)

rs587779480 
NM_000090.3(COL3A1):c.3255+1G>C

rs587779480 
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del)

rs587779501 
NM_000090.3(COL3A1):c.325643T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK)

rs587779667 
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val)

rs1060500203 
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp)

rs587779672 
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val)

rs587779666 
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp)

rs587779610 
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val)

rs587779614 
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg)

rs587779439 
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu)

rs121912924 
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg)

rs587779561 
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter)

rs112371422 
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val)

rs587779445 
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp)

rs587779639 
NM_000090.3(COL3A1):c.33642A>C (p.Gly1122_Arg1139del)

rs587779546 
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser)

rs587779536 
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp)

rs587779720 
NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+)

rs587779444 
NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+)

rs587779444 
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+)

rs587779444 
NM_000090.3(COL3A1):c.3417+4_3417+5del

rs1553509630 
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+)

rs587779448 
NM_000090.3(COL3A1):c.34181G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY)

rs587779562 
NM_000090.3(COL3A1):c.34182A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW)

rs587779502 
NM_000090.3(COL3A1):c.34182A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL)

rs587779502 
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu)

rs587779648 
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu)

rs587779495 
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)

rs587779715 
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp)

rs587779472 
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu)

rs587779473 
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val)

rs587779473 
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg)

rs587779553 
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg)

rs587779553 
NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp)

rs587779553 
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu)

rs587779431 
NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val)

rs587779431 
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter)

rs587779646 
NM_000090.3(COL3A1):c.3499G>A (p.Gly1167Ser)

rs587779609 
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg)

rs587779609 
NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys)

rs587779609 
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp)

rs587779578 
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val)

rs587779578 
NM_000090.3(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu)

rs886038925 
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser)

rs587779482 
NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp)

rs587779465 
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val)

rs587779465 
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg)

rs587779521 
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu)

rs121912918 
NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val)

rs121912918 
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp)

rs1553509726 
NM_000090.3(COL3A1):c.3527_3528GC>AA

rs587779669 
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg)

rs587779574 
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val)

rs587779627 
NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg)

rs587779683 
NM_000090.3(COL3A1):c.3544G>C (p.Gly1182Arg)

rs587779683 
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu)

rs111505097 
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val)

rs111505097 
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp)

rs121912917 
NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val)

rs121912917 
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg)

rs587779504 
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu)

rs112456072 
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp)

rs587779703 
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs)

rs587779712 
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter)

rs1060500187 
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter)

rs587779467 
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu)

rs587779528 
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val)

rs587779658 
NM_000090.3(COL3A1):c.3966_3972delinsTT (p.Glu1322fs)

rs1553509869 
NM_000090.3(COL3A1):c.3966del (p.Lys1323fs)

rs587779490 
NM_000090.3(COL3A1):c.3989del (p.Glu1330fs)

rs587779647 
NM_000090.3(COL3A1):c.4011+1G>T

rs112532745 
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg)

rs387906557 
NM_000090.3(COL3A1):c.4072C>T (p.Arg1358Ter)

rs794728057 
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter)

rs794728060 
NM_000090.3(COL3A1):c.413del (p.Pro138fs)

rs587779707 
NM_000090.3(COL3A1):c.4180_4189del (p.Gly1394fs)

rs794728059 
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=)

rs587779565 
NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter)

rs1553510000 
NM_000090.3(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer)

rs587779719 
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter)

rs587779585 
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln)

rs587779618 
NM_000090.3(COL3A1):c.479dup (p.Lys161fs)

rs397509377 
NM_000090.3(COL3A1):c.536del (p.Pro179fs)

rs1553507180 
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp)

rs587779714 
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser)

rs121912926 
NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg)

rs121912926 
NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys)

rs121912926 
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp)

rs587779420 
NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala)

rs587779420 
NM_000090.3(COL3A1):c.555del (p.Gly186fs)

rs587779451 
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser)

rs587779446 
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg)

rs587779507 
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val)

rs587779710 
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del)

rs587779508 
NM_000090.3(COL3A1):c.582+2dup

rs587779524 
NM_000090.3(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC


NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del)

rs587779671 
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del)

rs587779671 
NM_000090.3(COL3A1):c.582+5_582+11delinsACA

rs1559053784 
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del)

rs397509375 
NM_000090.3(COL3A1):c.582+6T>C

rs397509375 
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg)

rs267599120 
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg)

rs587779601 
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu)

rs587779641 
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg)

rs587779436 
NM_000090.3(COL3A1):c.608del (p.Pro203fs)

rs1553507265 
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser)

rs587779711 
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp)

rs587779626 
NM_000090.3(COL3A1):c.615_629dup (p.Gly207_Pro211dup)

rs587779628 
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp)

rs1553507274 
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val)

rs587779592 
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val)

rs587779515 
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del)

rs587779681 
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del)

rs587779676 
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del)

rs587779688 
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser)

rs587779557 
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu)

rs587779596 
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys)

rs587779624 
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp)

rs587779441 
NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala)

rs587779441 
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp)

rs587779518 
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val)

rs587779518 
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala)

rs587779533 
NM_000090.3(COL3A1):c.674G>T (p.Gly225Val)

rs587779533 
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg)

rs587779470 
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu)

rs587779555 
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del)

rs587779660 
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del)

rs587779497 
NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del)

rs587779497 
NM_000090.3(COL3A1):c.6912A>G

rs1576463100 
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp)

rs587779656 
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg)

rs587779625 
NM_000090.3(COL3A1):c.712C>T (p.Arg238Ter)

rs1393544920 
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg)

rs587779468 
NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu)

rs587779629 
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val)

rs587779629 
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu)

rs587779570 
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp)

rs121912927 
NM_000090.3(COL3A1):c.746G>T (p.Gly249Val)

rs121912927 
NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg)

rs587779705 
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp)

rs587779464 
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val)

rs587779464 
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu)

rs587779605 
NM_000090.3(COL3A1):c.764G>T (p.Gly255Val)

rs587779605 
NM_000090.3(COL3A1):c.766del (p.Ile256fs)

rs587779455 
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp)

rs587779635 
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu)

rs587779604 
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10)

rs587779463 
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser)

rs587779718 
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val)

rs587779427 
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu)

rs587779478 
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter)

rs1057521106 
NM_000090.3(COL3A1):c.81del (p.Val28fs)

rs1060500200 
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser)

rs1576463632 
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp)

rs587779644 
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp)

rs587779593 
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg)

rs587779531 
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val)

rs1576463663 
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg)

rs1553507557 
NM_000090.3(COL3A1):c.897+1G>A

rs1057518372 
NM_000090.3(COL3A1):c.8981G>C (p.Gly300_Ala317del)

rs587779556 
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg)

rs587779481 
NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp)

rs587779440 
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val)

rs587779440 
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg)

rs121912919 
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu)

rs113871730 
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs)

rs772827388 
NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala)

rs587779487 
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del)

rs587779652 
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del)

rs587779426 
NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del)

rs587779426 
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del)

rs587779452 
NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del)

rs587779598 
NM_000090.3(COL3A1):c.951+4_951+5del

rs1559055162 
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del)

rs587779422 
NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del)

rs587779423 
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del)

rs587779423 
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del)

rs587779425 
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp)

rs1553507614 
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp)

rs587779588 
NM_000090.3(COL3A1):c.962G>T (p.Gly321Val)

rs587779588 
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser)

rs587779650 
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter)

rs587779607 
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del)

rs587779516 
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del)

rs587779649 
NM_000090.3(COL3A1):c.99710A>G (p.Pro332_Gly333insFFQ)

rs587779670 
NM_000090.3(COL3A1):c.9971G>C (p.Gly333_Lys350del+)

rs587779687 
NM_000090.3(COL3A1):c.9972A>G (p.Gly333_Lys350del+)

rs587779602 
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp)

rs587779673 
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]


NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]


NM_000090.4(COL3A1):c.11501_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC

rs587779612 
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)


NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val)


NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)


NM_000090.4(COL3A1):c.1859dup (p.Gly621fs)

rs1576467144 
NM_000090.4(COL3A1):c.1910_1911CA[1] (p.Gln638fs)

rs1576467391 
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)

rs1576468562 
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)


NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)


NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val)


NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)


NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter)

rs1333421028 
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs)

rs587779655 