| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50185533_50185558del | CA2695226404 | COL1A1 | c.4339_4364del (p.Val1447LeufsTer?) c.4069_4094del (p.Val1357LeufsTer?) c.3421_3446del (p.Val1141LeufsTer?) c.4141_4166del (p.Val1381LeufsTer?) | |
| 17 | g.50185549_50185572delinsGGGCACCAACGTCCAAGGGGGCCA | CA2263913702 | COL1A1 | c.4325_4348delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1442=) c.4055_4078delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1352=) c.3407_3430delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1136=) c.4127_4150delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1376=) | |
| 17 | g.50185550_50185572del | CA916080908 | COL1A1 | c.4325_4347del (p.Val1442AlafsTer?) c.4055_4077del (p.Val1352AlafsTer?) c.3407_3429del (p.Val1136AlafsTer?) c.4127_4149del (p.Val1376AlafsTer?) | ClinVar dbSNP |
| 17 | g.50185553A>C | CA500842827 | COL1A1 | c.4344T>G (p.Gly1448=) c.4074T>G (p.Gly1358=) c.3426T>G (p.Gly1142=) c.4146T>G (p.Gly1382=) | |
| 17 | g.50185553A>G | CA500842830 | COL1A1 | c.4344T>C (p.Gly1448=) c.4074T>C (p.Gly1358=) c.3426T>C (p.Gly1142=) c.4146T>C (p.Gly1382=) | |
| 17 | g.50185553A>T | CA500842829 | COL1A1 | c.4344T>A (p.Gly1448=) c.4074T>A (p.Gly1358=) c.3426T>A (p.Gly1142=) c.4146T>A (p.Gly1382=) | |
| 17 | g.50185554C>A | CA400190200 | COL1A1 | c.4343G>T (p.Gly1448Val) c.4073G>T (p.Gly1358Val) c.3425G>T (p.Gly1142Val) c.4145G>T (p.Gly1382Val) | |
| 17 | g.50185554C>G | CA400190204 | COL1A1 | c.4343G>C (p.Gly1448Ala) c.4073G>C (p.Gly1358Ala) c.3425G>C (p.Gly1142Ala) c.4145G>C (p.Gly1382Ala) | |
| 17 | g.50185554C>T | CA400190207 | COL1A1 | c.4343G>A (p.Gly1448Asp) c.4073G>A (p.Gly1358Asp) c.3425G>A (p.Gly1142Asp) c.4145G>A (p.Gly1382Asp) | ClinVar dbSNP |
| 17 | g.50185555C>A | CA400190212 | COL1A1 | c.4342G>T (p.Gly1448Cys) c.4072G>T (p.Gly1358Cys) c.3424G>T (p.Gly1142Cys) c.4144G>T (p.Gly1382Cys) | |
| 17 | g.50185555C>G | CA400190214 | COL1A1 | c.4342G>C (p.Gly1448Arg) c.4072G>C (p.Gly1358Arg) c.3424G>C (p.Gly1142Arg) c.4144G>C (p.Gly1382Arg) | ClinVar |
| 17 | g.50185555C>T | CA400190216 | COL1A1 | c.4342G>A (p.Gly1448Ser) c.4072G>A (p.Gly1358Ser) c.3424G>A (p.Gly1142Ser) c.4144G>A (p.Gly1382Ser) | |
| 17 | g.50185556A= | CA2263913705 | COL1A1 | c.4341T= (p.Val1447=) c.4071T= (p.Val1357=) c.3423T= (p.Val1141=) c.4143T= (p.Val1381=) | |
| 17 | g.50185556A>C | CA500842845 | COL1A1 | c.4341T>G (p.Val1447=) c.4071T>G (p.Val1357=) c.3423T>G (p.Val1141=) c.4143T>G (p.Val1381=) | |
| 17 | g.50185556A>G | CA500842847 | COL1A1 | c.4341T>C (p.Val1447=) c.4071T>C (p.Val1357=) c.3423T>C (p.Val1141=) c.4143T>C (p.Val1381=) | |
| 17 | g.50185556A>T | CA500842850 | COL1A1 | c.4341T>A (p.Val1447=) c.4071T>A (p.Val1357=) c.3423T>A (p.Val1141=) c.4143T>A (p.Val1381=) | dbSNP |
| 17 | g.50185557A= | CA2263913706 | COL1A1 | c.4340T= (p.Val1447=) c.4070T= (p.Val1357=) c.3422T= (p.Val1141=) c.4142T= (p.Val1381=) | |
| 17 | g.50185557A>C | CA400190220 | COL1A1 | c.4340T>G (p.Val1447Gly) c.4070T>G (p.Val1357Gly) c.3422T>G (p.Val1141Gly) c.4142T>G (p.Val1381Gly) | ClinVar dbSNP |
| 17 | g.50185557A>G | CA291542762 | COL1A1 | c.4340T>C (p.Val1447Ala) c.4070T>C (p.Val1357Ala) c.3422T>C (p.Val1141Ala) c.4142T>C (p.Val1381Ala) | dbSNP gnomAD v4 |
| 17 | g.50185557A>T | CA400190223 | COL1A1 | c.4340T>A (p.Val1447Asp) c.4070T>A (p.Val1357Asp) c.3422T>A (p.Val1141Asp) c.4142T>A (p.Val1381Asp) | |
| 17 | g.50185557_50185558delinsAC | CA2263913707 | COL1A1 | c.4339_4340delinsGT (p.Val1447=) c.4069_4070delinsGT (p.Val1357=) c.3421_3422delinsGT (p.Val1141=) c.4141_4142delinsGT (p.Val1381=) | |
| 17 | g.50185557_50185568delinsGACCTGGTCT | CA2695226410 | COL1A1 | c.4329_4340delinsAGACCAGGTC (p.Pro1444AspfsTer?) c.4059_4070delinsAGACCAGGTC (p.Pro1354AspfsTer?) c.3411_3422delinsAGACCAGGTC (p.Pro1138AspfsTer?) c.4131_4142delinsAGACCAGGTC (p.Pro1378AspfsTer?) | |
| 17 | g.50185558del | CA891863028 | COL1A1 | c.4339del (p.Val1447LeufsTer?) c.4069del (p.Val1357LeufsTer?) c.3421del (p.Val1141LeufsTer?) c.4141del (p.Val1381LeufsTer?) | ClinVar dbSNP |
| 17 | g.50185558C>A | CA8644178 | COL1A1 | c.4339G>T (p.Val1447Phe) c.4069G>T (p.Val1357Phe) c.3421G>T (p.Val1141Phe) c.4141G>T (p.Val1381Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185558C= | CA2263913708 | COL1A1 | c.4339G= (p.Val1447=) c.4069G= (p.Val1357=) c.3421G= (p.Val1141=) c.4141G= (p.Val1381=) | |
| 17 | g.50185558C>G | CA400190236 | COL1A1 | c.4339G>C (p.Val1447Leu) c.4069G>C (p.Val1357Leu) c.3421G>C (p.Val1141Leu) c.4141G>C (p.Val1381Leu) | gnomAD v4 |
| 17 | g.50185558C>T | CA8644177 | COL1A1 | c.4339G>A (p.Val1447Ile) c.4069G>A (p.Val1357Ile) c.3421G>A (p.Val1141Ile) c.4141G>A (p.Val1381Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185559G>A | CA8644179 | COL1A1 | c.4338C>T (p.Asp1446=) c.4068C>T (p.Asp1356=) c.3420C>T (p.Asp1140=) c.4140C>T (p.Asp1380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185559G>C | CA400190237 | COL1A1 | c.4338C>G (p.Asp1446Glu) c.4068C>G (p.Asp1356Glu) c.3420C>G (p.Asp1140Glu) c.4140C>G (p.Asp1380Glu) | ClinVar |
| 17 | g.50185559G= | CA2263913709 | COL1A1 | c.4338C= (p.Asp1446=) c.4068C= (p.Asp1356=) c.3420C= (p.Asp1140=) c.4140C= (p.Asp1380=) | |
| 17 | g.50185559G>T | CA400190238 | COL1A1 | c.4338C>A (p.Asp1446Glu) c.4068C>A (p.Asp1356Glu) c.3420C>A (p.Asp1140Glu) c.4140C>A (p.Asp1380Glu) | |
| 17 | g.50185559dup | CA2695226412 | COL1A1 | c.4338dup (p.Val1447ArgfsTer?) c.4068dup (p.Val1357ArgfsTer?) c.3420dup (p.Val1141ArgfsTer?) c.4140dup (p.Val1381ArgfsTer?) | |
| 17 | g.50185559_50185574dup | CA2695226413 | COL1A1 | c.4323_4338dup (p.Val1447CysfsTer?) c.4053_4068dup (p.Val1357CysfsTer?) c.3405_3420dup (p.Val1141CysfsTer?) c.4125_4140dup (p.Val1381CysfsTer?) | |
| 17 | g.50185560T>A | CA400190240 | COL1A1 | c.4337A>T (p.Asp1446Val) c.4067A>T (p.Asp1356Val) c.3419A>T (p.Asp1140Val) c.4139A>T (p.Asp1380Val) | |
| 17 | g.50185560T>C | CA400190243 | COL1A1 | c.4337A>G (p.Asp1446Gly) c.4067A>G (p.Asp1356Gly) c.3419A>G (p.Asp1140Gly) c.4139A>G (p.Asp1380Gly) | |
| 17 | g.50185560T>G | CA400190252 | COL1A1 | c.4337A>C (p.Asp1446Ala) c.4067A>C (p.Asp1356Ala) c.3419A>C (p.Asp1140Ala) c.4139A>C (p.Asp1380Ala) | |
| 17 | g.50185560_50185562delinsTCC | CA2263913710 | COL1A1 | c.4335_4337delinsGGA (p.Leu1445=) c.4065_4067delinsGGA (p.Leu1355=) c.3417_3419delinsGGA (p.Leu1139=) c.4137_4139delinsGGA (p.Leu1379=) | |
| 17 | g.50185561C>A | CA400190259 | COL1A1 | c.4336G>T (p.Asp1446Tyr) c.4066G>T (p.Asp1356Tyr) c.3418G>T (p.Asp1140Tyr) c.4138G>T (p.Asp1380Tyr) | |
| 17 | g.50185561C>G | CA400190264 | COL1A1 | c.4336G>C (p.Asp1446His) c.4066G>C (p.Asp1356His) c.3418G>C (p.Asp1140His) c.4138G>C (p.Asp1380His) | |
| 17 | g.50185561C>T | CA400190256 | COL1A1 | c.4336G>A (p.Asp1446Asn) c.4066G>A (p.Asp1356Asn) c.3418G>A (p.Asp1140Asn) c.4138G>A (p.Asp1380Asn) | |
| 17 | g.50185561_50185562del | CA984452221 | COL1A1 | c.4335_4336del (p.Asp1446ArgfsTer?) c.4065_4066del (p.Asp1356ArgfsTer?) c.3417_3418del (p.Asp1140ArgfsTer?) c.4137_4138del (p.Asp1380ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185562C>A | CA400190269 | COL1A1 | c.4335G>T (p.Leu1445Phe) c.4065G>T (p.Leu1355Phe) c.3417G>T (p.Leu1139Phe) c.4137G>T (p.Leu1379Phe) | |
| 17 | g.50185562C>G | CA400190273 | COL1A1 | c.4335G>C (p.Leu1445Phe) c.4065G>C (p.Leu1355Phe) c.3417G>C (p.Leu1139Phe) c.4137G>C (p.Leu1379Phe) | |
| 17 | g.50185562C>T | CA500842869 | COL1A1 | c.4335G>A (p.Leu1445=) c.4065G>A (p.Leu1355=) c.3417G>A (p.Leu1139=) c.4137G>A (p.Leu1379=) | |
| 17 | g.50185563A>C | CA400190277 | COL1A1 | c.4334T>G (p.Leu1445Trp) c.4064T>G (p.Leu1355Trp) c.3416T>G (p.Leu1139Trp) c.4136T>G (p.Leu1379Trp) | |
| 17 | g.50185563A>G | CA400190279 | COL1A1 | c.4334T>C (p.Leu1445Ser) c.4064T>C (p.Leu1355Ser) c.3416T>C (p.Leu1139Ser) c.4136T>C (p.Leu1379Ser) | ClinVar |
| 17 | g.50185563A>T | CA400190282 | COL1A1 | c.4334T>A (p.Leu1445Ter) c.4064T>A (p.Leu1355Ter) c.3416T>A (p.Leu1139Ter) c.4136T>A (p.Leu1379Ter) | |
| 17 | g.50185564A= | CA2263913711 | COL1A1 | c.4333T= (p.Leu1445=) c.4063T= (p.Leu1355=) c.3415T= (p.Leu1139=) c.4135T= (p.Leu1379=) | |
| 17 | g.50185564A>C | CA400190289 | COL1A1 | c.4333T>G (p.Leu1445Val) c.4063T>G (p.Leu1355Val) c.3415T>G (p.Leu1139Val) c.4135T>G (p.Leu1379Val) | gnomAD v4 |
| 17 | g.50185564A>G | CA500991345 | COL1A1 | c.4333T>C (p.Leu1445=) c.4063T>C (p.Leu1355=) c.3415T>C (p.Leu1139=) c.4135T>C (p.Leu1379=) | gnomAD v4 |
| 17 | g.50185564A>T | CA400190284 | COL1A1 | c.4333T>A (p.Leu1445Met) c.4063T>A (p.Leu1355Met) c.3415T>A (p.Leu1139Met) c.4135T>A (p.Leu1379Met) | |
| 17 | g.50185565G>A | CA500991349 | COL1A1 | c.4332C>T (p.Pro1444=) c.4062C>T (p.Pro1354=) c.3414C>T (p.Pro1138=) c.4134C>T (p.Pro1378=) | gnomAD v4 COSMIC |
| 17 | g.50185565G>C | CA500991350 | COL1A1 | c.4332C>G (p.Pro1444=) c.4062C>G (p.Pro1354=) c.3414C>G (p.Pro1138=) c.4134C>G (p.Pro1378=) | gnomAD v4 |
| 17 | g.50185565G>T | CA500991351 | COL1A1 | c.4332C>A (p.Pro1444=) c.4062C>A (p.Pro1354=) c.3414C>A (p.Pro1138=) c.4134C>A (p.Pro1378=) | |
| 17 | g.50185569dup | CA645294098 | COL1A1 | c.4332dup (p.Asp1446GlyfsTer?) c.4062dup (p.Asp1356GlyfsTer?) c.3414dup (p.Asp1140GlyfsTer?) c.4134dup (p.Asp1380GlyfsTer?) | ClinVar dbSNP |
| 17 | g.50185566_50185569dup | CA658798885 | COL1A1 | c.4329_4332dup (p.Leu1445ProfsTer?) c.4059_4062dup (p.Leu1355ProfsTer?) c.3411_3414dup (p.Leu1139ProfsTer?) c.4131_4134dup (p.Leu1379ProfsTer?) | ClinVar dbSNP |
| 17 | g.50185569del | CA2580094160 | COL1A1 | c.4332del (p.Leu1445TrpfsTer?) c.4062del (p.Leu1355TrpfsTer?) c.3414del (p.Leu1139TrpfsTer?) c.4134del (p.Leu1379TrpfsTer?) | ClinVar dbSNP |
| 17 | g.50185566G>A | CA400190291 | COL1A1 | c.4331C>T (p.Pro1444Leu) c.4061C>T (p.Pro1354Leu) c.3413C>T (p.Pro1138Leu) c.4133C>T (p.Pro1378Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185566G>C | CA400190292 | COL1A1 | c.4331C>G (p.Pro1444Arg) c.4061C>G (p.Pro1354Arg) c.3413C>G (p.Pro1138Arg) c.4133C>G (p.Pro1378Arg) | |
| 17 | g.50185566G= | CA2263913712 | COL1A1 | c.4331C= (p.Pro1444=) c.4061C= (p.Pro1354=) c.3413C= (p.Pro1138=) c.4133C= (p.Pro1378=) | |
| 17 | g.50185566G>T | CA400190295 | COL1A1 | c.4331C>A (p.Pro1444His) c.4061C>A (p.Pro1354His) c.3413C>A (p.Pro1138His) c.4133C>A (p.Pro1378His) | |
| 17 | g.50185567G>A | CA400190299 | COL1A1 | c.4330C>T (p.Pro1444Ser) c.4060C>T (p.Pro1354Ser) c.3412C>T (p.Pro1138Ser) c.4132C>T (p.Pro1378Ser) | |
| 17 | g.50185567G>C | CA400190303 | COL1A1 | c.4330C>G (p.Pro1444Ala) c.4060C>G (p.Pro1354Ala) c.3412C>G (p.Pro1138Ala) c.4132C>G (p.Pro1378Ala) | |
| 17 | g.50185567G>T | CA400190305 | COL1A1 | c.4330C>A (p.Pro1444Thr) c.4060C>A (p.Pro1354Thr) c.3412C>A (p.Pro1138Thr) c.4132C>A (p.Pro1378Thr) | |
| 17 | g.50185576_50185577insCTTGGGCCACATC | CA2695226415 | COL1A1 | c.4330_4331insAAGGATGTGGCCC (p.Pro1444GlnfsTer?) c.4060_4061insAAGGATGTGGCCC (p.Pro1354GlnfsTer?) c.3412_3413insAAGGATGTGGCCC (p.Pro1138GlnfsTer?) c.4132_4133insAAGGATGTGGCCC (p.Pro1378GlnfsTer?) | |
| 17 | g.50185568G>A | CA500991356 | COL1A1 | c.4329C>T (p.Ala1443=) c.4059C>T (p.Ala1353=) c.3411C>T (p.Ala1137=) c.4131C>T (p.Ala1377=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185568G>C | CA500991354 | COL1A1 | c.4329C>G (p.Ala1443=) c.4059C>G (p.Ala1353=) c.3411C>G (p.Ala1137=) c.4131C>G (p.Ala1377=) | ClinVar |
| 17 | g.50185568G= | CA2263913713 | COL1A1 | c.4329C= (p.Ala1443=) c.4059C= (p.Ala1353=) c.3411C= (p.Ala1137=) c.4131C= (p.Ala1377=) | |
| 17 | g.50185568G>T | CA500991355 | COL1A1 | c.4329C>A (p.Ala1443=) c.4059C>A (p.Ala1353=) c.3411C>A (p.Ala1137=) c.4131C>A (p.Ala1377=) | |
| 17 | g.50185569G>A | CA400190313 | COL1A1 | c.4328C>T (p.Ala1443Val) c.4058C>T (p.Ala1353Val) c.3410C>T (p.Ala1137Val) c.4130C>T (p.Ala1377Val) | ClinVar dbSNP COSMIC |
| 17 | g.50185569G>C | CA400190321 | COL1A1 | c.4328C>G (p.Ala1443Gly) c.4058C>G (p.Ala1353Gly) c.3410C>G (p.Ala1137Gly) c.4130C>G (p.Ala1377Gly) | |
| 17 | g.50185569G= | CA2263913714 | COL1A1 | c.4328C= (p.Ala1443=) c.4058C= (p.Ala1353=) c.3410C= (p.Ala1137=) c.4130C= (p.Ala1377=) | |
| 17 | g.50185569G>T | CA400190316 | COL1A1 | c.4328C>A (p.Ala1443Asp) c.4058C>A (p.Ala1353Asp) c.3410C>A (p.Ala1137Asp) c.4130C>A (p.Ala1377Asp) | |
| 17 | g.50185570C>A | CA400190324 | COL1A1 | c.4327G>T (p.Ala1443Ser) c.4057G>T (p.Ala1353Ser) c.3409G>T (p.Ala1137Ser) c.4129G>T (p.Ala1377Ser) | gnomAD v4 |
| 17 | g.50185570C>G | CA400190325 | COL1A1 | c.4327G>C (p.Ala1443Pro) c.4057G>C (p.Ala1353Pro) c.3409G>C (p.Ala1137Pro) c.4129G>C (p.Ala1377Pro) | |
| 17 | g.50185570C>T | CA400190327 | COL1A1 | c.4327G>A (p.Ala1443Thr) c.4057G>A (p.Ala1353Thr) c.3409G>A (p.Ala1137Thr) c.4129G>A (p.Ala1377Thr) | |
| 17 | g.50185570_50185576dup | CA658656733 | COL1A1 | c.4321_4327dup (p.Ala1443GlyfsTer?) c.4051_4057dup (p.Ala1353GlyfsTer?) c.3403_3409dup (p.Ala1137GlyfsTer?) c.4123_4129dup (p.Ala1377GlyfsTer?) | ClinVar dbSNP |
| 17 | g.50185571C>A | CA500991361 | COL1A1 | c.4326G>T (p.Val1442=) c.4056G>T (p.Val1352=) c.3408G>T (p.Val1136=) c.4128G>T (p.Val1376=) | |
| 17 | g.50185571C>G | CA500991363 | COL1A1 | c.4326G>C (p.Val1442=) c.4056G>C (p.Val1352=) c.3408G>C (p.Val1136=) c.4128G>C (p.Val1376=) | |
| 17 | g.50185571C>T | CA500991364 | COL1A1 | c.4326G>A (p.Val1442=) c.4056G>A (p.Val1352=) c.3408G>A (p.Val1136=) c.4128G>A (p.Val1376=) | |
| 17 | g.50185572A= | CA2263913715 | COL1A1 | c.4325T= (p.Val1442=) c.4055T= (p.Val1352=) c.3407T= (p.Val1136=) c.4127T= (p.Val1376=) | |
| 17 | g.50185572A>C | CA400190330 | COL1A1 | c.4325T>G (p.Val1442Gly) c.4055T>G (p.Val1352Gly) c.3407T>G (p.Val1136Gly) c.4127T>G (p.Val1376Gly) | |
| 17 | g.50185572A>G | CA400190332 | COL1A1 | c.4325T>C (p.Val1442Ala) c.4055T>C (p.Val1352Ala) c.3407T>C (p.Val1136Ala) c.4127T>C (p.Val1376Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185572A>T | CA400190339 | COL1A1 | c.4325T>A (p.Val1442Glu) c.4055T>A (p.Val1352Glu) c.3407T>A (p.Val1136Glu) c.4127T>A (p.Val1376Glu) | |
| 17 | g.50185573C>A | CA400190346 | COL1A1 | c.4324G>T (p.Val1442Leu) c.4054G>T (p.Val1352Leu) c.3406G>T (p.Val1136Leu) c.4126G>T (p.Val1376Leu) | |
| 17 | g.50185573C= | CA2263913716 | COL1A1 | c.4324G= (p.Val1442=) c.4054G= (p.Val1352=) c.3406G= (p.Val1136=) c.4126G= (p.Val1376=) | |
| 17 | g.50185573C>G | CA400190349 | COL1A1 | c.4324G>C (p.Val1442Leu) c.4054G>C (p.Val1352Leu) c.3406G>C (p.Val1136Leu) c.4126G>C (p.Val1376Leu) | |
| 17 | g.50185573C>T | CA400190353 | COL1A1 | c.4324G>A (p.Val1442Met) c.4054G>A (p.Val1352Met) c.3406G>A (p.Val1136Met) c.4126G>A (p.Val1376Met) | dbSNP gnomAD v4 |
| 17 | g.50185574A= | CA2263913717 | COL1A1 | c.4323T= (p.Asp1441=) c.4053T= (p.Asp1351=) c.3405T= (p.Asp1135=) c.4125T= (p.Asp1375=) | |
| 17 | g.50185574A>C | CA400190360 | COL1A1 | c.4323T>G (p.Asp1441Glu) c.4053T>G (p.Asp1351Glu) c.3405T>G (p.Asp1135Glu) c.4125T>G (p.Asp1375Glu) | |
| 17 | g.50185574A>G | CA8644180 | COL1A1 | c.4323T>C (p.Asp1441=) c.4053T>C (p.Asp1351=) c.3405T>C (p.Asp1135=) c.4125T>C (p.Asp1375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185574A>T | CA400190372 | COL1A1 | c.4323T>A (p.Asp1441Glu) c.4053T>A (p.Asp1351Glu) c.3405T>A (p.Asp1135Glu) c.4125T>A (p.Asp1375Glu) | ClinVar |
| 17 | g.50185575T>A | CA400190383 | COL1A1 | c.4322A>T (p.Asp1441Val) c.4052A>T (p.Asp1351Val) c.3404A>T (p.Asp1135Val) c.4124A>T (p.Asp1375Val) | |
| 17 | g.50185575T>C | CA400190390 | COL1A1 | c.4322A>G (p.Asp1441Gly) c.4052A>G (p.Asp1351Gly) c.3404A>G (p.Asp1135Gly) c.4124A>G (p.Asp1375Gly) | gnomAD v4 |
| 17 | g.50185575T>G | CA400190377 | COL1A1 | c.4322A>C (p.Asp1441Ala) c.4052A>C (p.Asp1351Ala) c.3404A>C (p.Asp1135Ala) c.4124A>C (p.Asp1375Ala) | |
| 17 | g.50185576C>A | CA291542763 | COL1A1 | c.4321G>T (p.Asp1441Tyr) c.4051G>T (p.Asp1351Tyr) c.3403G>T (p.Asp1135Tyr) c.4123G>T (p.Asp1375Tyr) | ClinVar dbSNP |
| 17 | g.50185576C= | CA2263913718 | COL1A1 | c.4321G= (p.Asp1441=) c.4051G= (p.Asp1351=) c.3403G= (p.Asp1135=) c.4123G= (p.Asp1375=) | |
| 17 | g.50185576C>G | CA400190398 | COL1A1 | c.4321G>C (p.Asp1441His) c.4051G>C (p.Asp1351His) c.3403G>C (p.Asp1135His) c.4123G>C (p.Asp1375His) | ClinVar dbSNP |
| 17 | g.50185576C>T | CA400190401 | COL1A1 | c.4321G>A (p.Asp1441Asn) c.4051G>A (p.Asp1351Asn) c.3403G>A (p.Asp1135Asn) c.4123G>A (p.Asp1375Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185577G>A | CA8644181 | COL1A1 | c.4320C>T (p.Ile1440=) c.4050C>T (p.Ile1350=) c.3402C>T (p.Ile1134=) c.4122C>T (p.Ile1374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185577G>C | CA400190421 | COL1A1 | c.4320C>G (p.Ile1440Met) c.4050C>G (p.Ile1350Met) c.3402C>G (p.Ile1134Met) c.4122C>G (p.Ile1374Met) | ClinVar dbSNP |
| 17 | g.50185577G= | CA2263913719 | COL1A1 | c.4320C= (p.Ile1440=) c.4050C= (p.Ile1350=) c.3402C= (p.Ile1134=) c.4122C= (p.Ile1374=) | |
| 17 | g.50185577G>T | CA500991380 | COL1A1 | c.4320C>A (p.Ile1440=) c.4050C>A (p.Ile1350=) c.3402C>A (p.Ile1134=) c.4122C>A (p.Ile1374=) | |
| 17 | g.50185578A= | CA2263913720 | COL1A1 | c.4319T= (p.Ile1440=) c.4049T= (p.Ile1350=) c.3401T= (p.Ile1134=) c.4121T= (p.Ile1374=) | |
| 17 | g.50185578A>C | CA400190423 | COL1A1 | c.4319T>G (p.Ile1440Ser) c.4049T>G (p.Ile1350Ser) c.3401T>G (p.Ile1134Ser) c.4121T>G (p.Ile1374Ser) | |
| 17 | g.50185578A>G | CA400190427 | COL1A1 | c.4319T>C (p.Ile1440Thr) c.4049T>C (p.Ile1350Thr) c.3401T>C (p.Ile1134Thr) c.4121T>C (p.Ile1374Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185578A>T | CA291542764 | COL1A1 | c.4319T>A (p.Ile1440Asn) c.4049T>A (p.Ile1350Asn) c.3401T>A (p.Ile1134Asn) c.4121T>A (p.Ile1374Asn) | dbSNP |
| 17 | g.50185579T>A | CA400190429 | COL1A1 | c.4318A>T (p.Ile1440Phe) c.4048A>T (p.Ile1350Phe) c.3400A>T (p.Ile1134Phe) c.4120A>T (p.Ile1374Phe) | |
| 17 | g.50185579T>C | CA400190433 | COL1A1 | c.4318A>G (p.Ile1440Val) c.4048A>G (p.Ile1350Val) c.3400A>G (p.Ile1134Val) c.4120A>G (p.Ile1374Val) | |
| 17 | g.50185579T>G | CA400190430 | COL1A1 | c.4318A>C (p.Ile1440Leu) c.4048A>C (p.Ile1350Leu) c.3400A>C (p.Ile1134Leu) c.4120A>C (p.Ile1374Leu) | |
| 17 | g.50185579_50185590dup | CA984452240 | COL1A1 | c.4307_4318dup (p.Ile1439_Ile1440insSerLeuProIle) c.4037_4048dup (p.Ile1349_Ile1350insSerLeuProIle) c.3389_3400dup (p.Ile1133_Ile1134insSerLeuProIle) c.4109_4120dup (p.Ile1373_Ile1374insSerLeuProIle) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185580G>A | CA500991384 | COL1A1 | c.4317C>T (p.Ile1439=) c.4047C>T (p.Ile1349=) c.3399C>T (p.Ile1133=) c.4119C>T (p.Ile1373=) | gnomAD v4 |
| 17 | g.50185580G>C | CA8644182 | COL1A1 | c.4317C>G (p.Ile1439Met) c.4047C>G (p.Ile1349Met) c.3399C>G (p.Ile1133Met) c.4119C>G (p.Ile1373Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185580G= | CA2263913721 | COL1A1 | c.4317C= (p.Ile1439=) c.4047C= (p.Ile1349=) c.3399C= (p.Ile1133=) c.4119C= (p.Ile1373=) | |
| 17 | g.50185580G>T | CA500991385 | COL1A1 | c.4317C>A (p.Ile1439=) c.4047C>A (p.Ile1349=) c.3399C>A (p.Ile1133=) c.4119C>A (p.Ile1373=) | gnomAD v4 |
| 17 | g.50185581A= | CA2263913722 | COL1A1 | c.4316T= (p.Ile1439=) c.4046T= (p.Ile1349=) c.3398T= (p.Ile1133=) c.4118T= (p.Ile1373=) | |
| 17 | g.50185581A>C | CA400190438 | COL1A1 | c.4316T>G (p.Ile1439Ser) c.4046T>G (p.Ile1349Ser) c.3398T>G (p.Ile1133Ser) c.4118T>G (p.Ile1373Ser) | |
| 17 | g.50185581A>G | CA400190441 | COL1A1 | c.4316T>C (p.Ile1439Thr) c.4046T>C (p.Ile1349Thr) c.3398T>C (p.Ile1133Thr) c.4118T>C (p.Ile1373Thr) | ClinVar dbSNP |
| 17 | g.50185581A>T | CA400190444 | COL1A1 | c.4316T>A (p.Ile1439Asn) c.4046T>A (p.Ile1349Asn) c.3398T>A (p.Ile1133Asn) c.4118T>A (p.Ile1373Asn) | |
| 17 | g.50185582T>A | CA400190448 | COL1A1 | c.4315A>T (p.Ile1439Phe) c.4045A>T (p.Ile1349Phe) c.3397A>T (p.Ile1133Phe) c.4117A>T (p.Ile1373Phe) | |
| 17 | g.50185582T>C | CA8644183 | COL1A1 | c.4315A>G (p.Ile1439Val) c.4045A>G (p.Ile1349Val) c.3397A>G (p.Ile1133Val) c.4117A>G (p.Ile1373Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185582T>G | CA400190454 | COL1A1 | c.4315A>C (p.Ile1439Leu) c.4045A>C (p.Ile1349Leu) c.3397A>C (p.Ile1133Leu) c.4117A>C (p.Ile1373Leu) | |
| 17 | g.50185582T= | CA2263913723 | COL1A1 | c.4315A= (p.Ile1439=) c.4045A= (p.Ile1349=) c.3397A= (p.Ile1133=) c.4117A= (p.Ile1373=) | |
| 17 | g.50185583G>A | CA8644184 | COL1A1 | c.4314C>T (p.Pro1438=) c.4044C>T (p.Pro1348=) c.3396C>T (p.Pro1132=) c.4116C>T (p.Pro1372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185583G>C | CA500991387 | COL1A1 | c.4314C>G (p.Pro1438=) c.4044C>G (p.Pro1348=) c.3396C>G (p.Pro1132=) c.4116C>G (p.Pro1372=) | |
| 17 | g.50185583G= | CA2263913724 | COL1A1 | c.4314C= (p.Pro1438=) c.4044C= (p.Pro1348=) c.3396C= (p.Pro1132=) c.4116C= (p.Pro1372=) | |
| 17 | g.50185583G>T | CA500991388 | COL1A1 | c.4314C>A (p.Pro1438=) c.4044C>A (p.Pro1348=) c.3396C>A (p.Pro1132=) c.4116C>A (p.Pro1372=) | |
| 17 | g.50185584G>A | CA400190463 | COL1A1 | c.4313C>T (p.Pro1438Leu) c.4043C>T (p.Pro1348Leu) c.3395C>T (p.Pro1132Leu) c.4115C>T (p.Pro1372Leu) | |
| 17 | g.50185584G>C | CA291542765 | COL1A1 | c.4313C>G (p.Pro1438Arg) c.4043C>G (p.Pro1348Arg) c.3395C>G (p.Pro1132Arg) c.4115C>G (p.Pro1372Arg) | dbSNP |
| 17 | g.50185584G= | CA2263913725 | COL1A1 | c.4313C= (p.Pro1438=) c.4043C= (p.Pro1348=) c.3395C= (p.Pro1132=) c.4115C= (p.Pro1372=) | |
| 17 | g.50185584G>T | CA400190466 | COL1A1 | c.4313C>A (p.Pro1438His) c.4043C>A (p.Pro1348His) c.3395C>A (p.Pro1132His) c.4115C>A (p.Pro1372His) | |
| 17 | g.50185585G>A | CA400190469 | COL1A1 | c.4312C>T (p.Pro1438Ser) c.4042C>T (p.Pro1348Ser) c.3394C>T (p.Pro1132Ser) c.4114C>T (p.Pro1372Ser) | |
| 17 | g.50185585G>C | CA400190472 | COL1A1 | c.4312C>G (p.Pro1438Ala) c.4042C>G (p.Pro1348Ala) c.3394C>G (p.Pro1132Ala) c.4114C>G (p.Pro1372Ala) | |
| 17 | g.50185585G>T | CA400190474 | COL1A1 | c.4312C>A (p.Pro1438Thr) c.4042C>A (p.Pro1348Thr) c.3394C>A (p.Pro1132Thr) c.4114C>A (p.Pro1372Thr) | |
| 17 | g.50185586C>A | CA500991392 | COL1A1 | c.4311G>T (p.Leu1437=) c.4041G>T (p.Leu1347=) c.3393G>T (p.Leu1131=) c.4113G>T (p.Leu1371=) | |
| 17 | g.50185586C>G | CA500991393 | COL1A1 | c.4311G>C (p.Leu1437=) c.4041G>C (p.Leu1347=) c.3393G>C (p.Leu1131=) c.4113G>C (p.Leu1371=) | |
| 17 | g.50185586C>T | CA500991394 | COL1A1 | c.4311G>A (p.Leu1437=) c.4041G>A (p.Leu1347=) c.3393G>A (p.Leu1131=) c.4113G>A (p.Leu1371=) | |
| 17 | g.50185587A= | CA2263913726 | COL1A1 | c.4310T= (p.Leu1437=) c.4040T= (p.Leu1347=) c.3392T= (p.Leu1131=) c.4112T= (p.Leu1371=) | |
| 17 | g.50185587A>C | CA400190478 | COL1A1 | c.4310T>G (p.Leu1437Arg) c.4040T>G (p.Leu1347Arg) c.3392T>G (p.Leu1131Arg) c.4112T>G (p.Leu1371Arg) | |
| 17 | g.50185587A>G | CA400190481 | COL1A1 | c.4310T>C (p.Leu1437Pro) c.4040T>C (p.Leu1347Pro) c.3392T>C (p.Leu1131Pro) c.4112T>C (p.Leu1371Pro) | |
| 17 | g.50185587A>T | CA291542766 | COL1A1 | c.4310T>A (p.Leu1437Gln) c.4040T>A (p.Leu1347Gln) c.3392T>A (p.Leu1131Gln) c.4112T>A (p.Leu1371Gln) | dbSNP |
| 17 | g.50185588G>A | CA500991396 | COL1A1 | c.4309C>T (p.Leu1437=) c.4039C>T (p.Leu1347=) c.3391C>T (p.Leu1131=) c.4111C>T (p.Leu1371=) | gnomAD v4 |
| 17 | g.50185588G>C | CA400190495 | COL1A1 | c.4309C>G (p.Leu1437Val) c.4039C>G (p.Leu1347Val) c.3391C>G (p.Leu1131Val) c.4111C>G (p.Leu1371Val) | |
| 17 | g.50185588G= | CA2263913727 | COL1A1 | c.4309C= (p.Leu1437=) c.4039C= (p.Leu1347=) c.3391C= (p.Leu1131=) c.4111C= (p.Leu1371=) | |
| 17 | g.50185588G>T | CA8644185 | COL1A1 | c.4309C>A (p.Leu1437Met) c.4039C>A (p.Leu1347Met) c.3391C>A (p.Leu1131Met) c.4111C>A (p.Leu1371Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185589del | CA2695226419 | COL1A1 | c.4309del (p.Leu1437CysfsTer?) c.4039del (p.Leu1347CysfsTer?) c.3391del (p.Leu1131CysfsTer?) c.4111del (p.Leu1371CysfsTer?) | |
| 17 | g.50185588_50185589insT | CA1139771331 | COL1A1 | c.4308_4309insA (p.Leu1437ThrfsTer?) c.4038_4039insA (p.Leu1347ThrfsTer?) c.3390_3391insA (p.Leu1131ThrfsTer?) c.4110_4111insA (p.Leu1371ThrfsTer?) | |
| 17 | g.50185589G>A | CA8644186 | COL1A1 | c.4308C>T (p.Arg1436=) c.4038C>T (p.Arg1346=) c.3390C>T (p.Arg1130=) c.4110C>T (p.Arg1370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185589G>C | CA500991398 | COL1A1 | c.4308C>G (p.Arg1436=) c.4038C>G (p.Arg1346=) c.3390C>G (p.Arg1130=) c.4110C>G (p.Arg1370=) | |
| 17 | g.50185589G= | CA2263913728 | COL1A1 | c.4308C= (p.Arg1436=) c.4038C= (p.Arg1346=) c.3390C= (p.Arg1130=) c.4110C= (p.Arg1370=) | |
| 17 | g.50185589G>T | CA500991397 | COL1A1 | c.4308C>A (p.Arg1436=) c.4038C>A (p.Arg1346=) c.3390C>A (p.Arg1130=) c.4110C>A (p.Arg1370=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185589_50185590insAGGC | CA2695226421 | COL1A1 | c.4307_4308insGCCT (p.Leu1437ProfsTer?) c.4037_4038insGCCT (p.Leu1347ProfsTer?) c.3389_3390insGCCT (p.Leu1131ProfsTer?) c.4109_4110insGCCT (p.Leu1371ProfsTer?) | |
| 17 | g.50185590C>A | CA400190505 | COL1A1 | c.4307G>T (p.Arg1436Leu) c.4037G>T (p.Arg1346Leu) c.3389G>T (p.Arg1130Leu) c.4109G>T (p.Arg1370Leu) | |
| 17 | g.50185590C= | CA2263913729 | COL1A1 | c.4307G= (p.Arg1436=) c.4037G= (p.Arg1346=) c.3389G= (p.Arg1130=) c.4109G= (p.Arg1370=) | |
| 17 | g.50185590C>G | CA400190502 | COL1A1 | c.4307G>C (p.Arg1436Pro) c.4037G>C (p.Arg1346Pro) c.3389G>C (p.Arg1130Pro) c.4109G>C (p.Arg1370Pro) | |
| 17 | g.50185590C>T | CA8644187 | COL1A1 | c.4307G>A (p.Arg1436His) c.4037G>A (p.Arg1346His) c.3389G>A (p.Arg1130His) c.4109G>A (p.Arg1370His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185591G>A | CA8644188 | COL1A1 | c.4306C>T (p.Arg1436Cys) c.4036C>T (p.Arg1346Cys) c.3388C>T (p.Arg1130Cys) c.4108C>T (p.Arg1370Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185591G>C | CA400190512 | COL1A1 | c.4306C>G (p.Arg1436Gly) c.4036C>G (p.Arg1346Gly) c.3388C>G (p.Arg1130Gly) c.4108C>G (p.Arg1370Gly) | gnomAD v4 |
| 17 | g.50185591G= | CA2263913730 | COL1A1 | c.4306C= (p.Arg1436=) c.4036C= (p.Arg1346=) c.3388C= (p.Arg1130=) c.4108C= (p.Arg1370=) | |
| 17 | g.50185591G>T | CA400190515 | COL1A1 | c.4306C>A (p.Arg1436Ser) c.4036C>A (p.Arg1346Ser) c.3388C>A (p.Arg1130Ser) c.4108C>A (p.Arg1370Ser) | |
| 17 | g.50185592G>A | CA500991401 | COL1A1 | c.4305C>T (p.Ser1435=) c.4035C>T (p.Ser1345=) c.3387C>T (p.Ser1129=) c.4107C>T (p.Ser1369=) | |
| 17 | g.50185592G>C | CA500991402 | COL1A1 | c.4305C>G (p.Ser1435=) c.4035C>G (p.Ser1345=) c.3387C>G (p.Ser1129=) c.4107C>G (p.Ser1369=) | |
| 17 | g.50185592G>T | CA500991403 | COL1A1 | c.4305C>A (p.Ser1435=) c.4035C>A (p.Ser1345=) c.3387C>A (p.Ser1129=) c.4107C>A (p.Ser1369=) | |
| 17 | g.50185593G>A | CA400190516 | COL1A1 | c.4304C>T (p.Ser1435Phe) c.4034C>T (p.Ser1345Phe) c.3386C>T (p.Ser1129Phe) c.4106C>T (p.Ser1369Phe) | |
| 17 | g.50185593G>C | CA400190517 | COL1A1 | c.4304C>G (p.Ser1435Cys) c.4034C>G (p.Ser1345Cys) c.3386C>G (p.Ser1129Cys) c.4106C>G (p.Ser1369Cys) | |
| 17 | g.50185593G>T | CA400190520 | COL1A1 | c.4304C>A (p.Ser1435Tyr) c.4034C>A (p.Ser1345Tyr) c.3386C>A (p.Ser1129Tyr) c.4106C>A (p.Ser1369Tyr) | |
| 17 | g.50185594A>C | CA400190525 | COL1A1 | c.4303T>G (p.Ser1435Ala) c.4033T>G (p.Ser1345Ala) c.3385T>G (p.Ser1129Ala) c.4105T>G (p.Ser1369Ala) | |
| 17 | g.50185594A>G | CA400190527 | COL1A1 | c.4303T>C (p.Ser1435Pro) c.4033T>C (p.Ser1345Pro) c.3385T>C (p.Ser1129Pro) c.4105T>C (p.Ser1369Pro) | |
| 17 | g.50185594A>T | CA400190531 | COL1A1 | c.4303T>A (p.Ser1435Thr) c.4033T>A (p.Ser1345Thr) c.3385T>A (p.Ser1129Thr) c.4105T>A (p.Ser1369Thr) | |
| 17 | g.50185595G>A | CA500991408 | COL1A1 | c.4302C>T (p.Thr1434=) c.4032C>T (p.Thr1344=) c.3384C>T (p.Thr1128=) c.4104C>T (p.Thr1368=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185595G>C | CA500991412 | COL1A1 | c.4302C>G (p.Thr1434=) c.4032C>G (p.Thr1344=) c.3384C>G (p.Thr1128=) c.4104C>G (p.Thr1368=) | |
| 17 | g.50185595G= | CA2263913731 | COL1A1 | c.4302C= (p.Thr1434=) c.4032C= (p.Thr1344=) c.3384C= (p.Thr1128=) c.4104C= (p.Thr1368=) | |
| 17 | g.50185595G>T | CA500991409 | COL1A1 | c.4302C>A (p.Thr1434=) c.4032C>A (p.Thr1344=) c.3384C>A (p.Thr1128=) c.4104C>A (p.Thr1368=) | |
| 17 | g.50185596G>A | CA400190534 | COL1A1 | c.4301C>T (p.Thr1434Ile) c.4031C>T (p.Thr1344Ile) c.3383C>T (p.Thr1128Ile) c.4103C>T (p.Thr1368Ile) | |
| 17 | g.50185596G>C | CA400190536 | COL1A1 | c.4301C>G (p.Thr1434Ser) c.4031C>G (p.Thr1344Ser) c.3383C>G (p.Thr1128Ser) c.4103C>G (p.Thr1368Ser) | |
| 17 | g.50185596G>T | CA400190538 | COL1A1 | c.4301C>A (p.Thr1434Asn) c.4031C>A (p.Thr1344Asn) c.3383C>A (p.Thr1128Asn) c.4103C>A (p.Thr1368Asn) | |
| 17 | g.50185597T>A | CA291542767 | COL1A1 | c.4300A>T (p.Thr1434Ser) c.4030A>T (p.Thr1344Ser) c.3382A>T (p.Thr1128Ser) c.4102A>T (p.Thr1368Ser) | dbSNP |
| 17 | g.50185597T>C | CA400190542 | COL1A1 | c.4300A>G (p.Thr1434Ala) c.4030A>G (p.Thr1344Ala) c.3382A>G (p.Thr1128Ala) c.4102A>G (p.Thr1368Ala) | |
| 17 | g.50185597T>G | CA400190541 | COL1A1 | c.4300A>C (p.Thr1434Pro) c.4030A>C (p.Thr1344Pro) c.3382A>C (p.Thr1128Pro) c.4102A>C (p.Thr1368Pro) | dbSNP |
| 17 | g.50185597T= | CA2263913732 | COL1A1 | c.4300A= (p.Thr1434=) c.4030A= (p.Thr1344=) c.3382A= (p.Thr1128=) c.4102A= (p.Thr1368=) | |
| 17 | g.50185598C>A | CA400190544 | COL1A1 | c.4299G>T (p.Lys1433Asn) c.4029G>T (p.Lys1343Asn) c.3381G>T (p.Lys1127Asn) c.4101G>T (p.Lys1367Asn) | |
| 17 | g.50185598C>G | CA400190548 | COL1A1 | c.4299G>C (p.Lys1433Asn) c.4029G>C (p.Lys1343Asn) c.3381G>C (p.Lys1127Asn) c.4101G>C (p.Lys1367Asn) | |
| 17 | g.50185598C>T | CA500991417 | COL1A1 | c.4299G>A (p.Lys1433=) c.4029G>A (p.Lys1343=) c.3381G>A (p.Lys1127=) c.4101G>A (p.Lys1367=) | |
| 17 | g.50185599T>A | CA400190550 | COL1A1 | c.4298A>T (p.Lys1433Met) c.4028A>T (p.Lys1343Met) c.3380A>T (p.Lys1127Met) c.4100A>T (p.Lys1367Met) | |
| 17 | g.50185599T>C | CA400190555 | COL1A1 | c.4298A>G (p.Lys1433Arg) c.4028A>G (p.Lys1343Arg) c.3380A>G (p.Lys1127Arg) c.4100A>G (p.Lys1367Arg) | |
| 17 | g.50185599T>G | CA400190557 | COL1A1 | c.4298A>C (p.Lys1433Thr) c.4028A>C (p.Lys1343Thr) c.3380A>C (p.Lys1127Thr) c.4100A>C (p.Lys1367Thr) | |
| 17 | g.50185600T>A | CA400190558 | COL1A1 | c.4297A>T (p.Lys1433Ter) c.4027A>T (p.Lys1343Ter) c.3379A>T (p.Lys1127Ter) c.4099A>T (p.Lys1367Ter) | |
| 17 | g.50185600T>C | CA400190559 | COL1A1 | c.4297A>G (p.Lys1433Glu) c.4027A>G (p.Lys1343Glu) c.3379A>G (p.Lys1127Glu) c.4099A>G (p.Lys1367Glu) | |
| 17 | g.50185600T>G | CA400190561 | COL1A1 | c.4297A>C (p.Lys1433Gln) c.4027A>C (p.Lys1343Gln) c.3379A>C (p.Lys1127Gln) c.4099A>C (p.Lys1367Gln) | |
| 17 | g.50185601G>A | CA8644189 | COL1A1 | c.4296C>T (p.Thr1432=) c.4026C>T (p.Thr1342=) c.3378C>T (p.Thr1126=) c.4098C>T (p.Thr1366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185601G>C | CA500991420 | COL1A1 | c.4296C>G (p.Thr1432=) c.4026C>G (p.Thr1342=) c.3378C>G (p.Thr1126=) c.4098C>G (p.Thr1366=) | |
| 17 | g.50185601G= | CA2263913733 | COL1A1 | c.4296C= (p.Thr1432=) c.4026C= (p.Thr1342=) c.3378C= (p.Thr1126=) c.4098C= (p.Thr1366=) | |
| 17 | g.50185601G>T | CA291542768 | COL1A1 | c.4296C>A (p.Thr1432=) c.4026C>A (p.Thr1342=) c.3378C>A (p.Thr1126=) c.4098C>A (p.Thr1366=) | dbSNP gnomAD v4 |
| 17 | g.50185602G>A | CA400190569 | COL1A1 | c.4295C>T (p.Thr1432Ile) c.4025C>T (p.Thr1342Ile) c.3377C>T (p.Thr1126Ile) c.4097C>T (p.Thr1366Ile) | |
| 17 | g.50185602G>C | CA400190575 | COL1A1 | c.4295C>G (p.Thr1432Ser) c.4025C>G (p.Thr1342Ser) c.3377C>G (p.Thr1126Ser) c.4097C>G (p.Thr1366Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185602G= | CA2263913734 | COL1A1 | c.4295C= (p.Thr1432=) c.4025C= (p.Thr1342=) c.3377C= (p.Thr1126=) c.4097C= (p.Thr1366=) | |
| 17 | g.50185602G>T | CA400190579 | COL1A1 | c.4295C>A (p.Thr1432Asn) c.4025C>A (p.Thr1342Asn) c.3377C>A (p.Thr1126Asn) c.4097C>A (p.Thr1366Asn) | dbSNP gnomAD v4 |
| 17 | g.50185603T>A | CA400190585 | COL1A1 | c.4294A>T (p.Thr1432Ser) c.4024A>T (p.Thr1342Ser) c.3376A>T (p.Thr1126Ser) c.4096A>T (p.Thr1366Ser) | |
| 17 | g.50185603T>C | CA8644190 | COL1A1 | c.4294A>G (p.Thr1432Ala) c.4024A>G (p.Thr1342Ala) c.3376A>G (p.Thr1126Ala) c.4096A>G (p.Thr1366Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185603T>G | CA400190583 | COL1A1 | c.4294A>C (p.Thr1432Pro) c.4024A>C (p.Thr1342Pro) c.3376A>C (p.Thr1126Pro) c.4096A>C (p.Thr1366Pro) | |
| 17 | g.50185603T= | CA2263913735 | COL1A1 | c.4294A= (p.Thr1432=) c.4024A= (p.Thr1342=) c.3376A= (p.Thr1126=) c.4096A= (p.Thr1366=) | |
| 17 | g.50185604G>A | CA500991426 | COL1A1 | c.4293C>T (p.Thr1431=) c.4023C>T (p.Thr1341=) c.3375C>T (p.Thr1125=) c.4095C>T (p.Thr1365=) | ClinVar |
| 17 | g.50185604G>C | CA500991427 | COL1A1 | c.4293C>G (p.Thr1431=) c.4023C>G (p.Thr1341=) c.3375C>G (p.Thr1125=) c.4095C>G (p.Thr1365=) | |
| 17 | g.50185604G>T | CA500991429 | COL1A1 | c.4293C>A (p.Thr1431=) c.4023C>A (p.Thr1341=) c.3375C>A (p.Thr1125=) c.4095C>A (p.Thr1365=) | |
| 17 | g.50185605G>A | CA400190590 | COL1A1 | c.4292C>T (p.Thr1431Ile) c.4022C>T (p.Thr1341Ile) c.3374C>T (p.Thr1125Ile) c.4094C>T (p.Thr1365Ile) | ClinVar dbSNP |
| 17 | g.50185605G>C | CA400190594 | COL1A1 | c.4292C>G (p.Thr1431Ser) c.4022C>G (p.Thr1341Ser) c.3374C>G (p.Thr1125Ser) c.4094C>G (p.Thr1365Ser) | |
| 17 | g.50185605G= | CA2263913736 | COL1A1 | c.4292C= (p.Thr1431=) c.4022C= (p.Thr1341=) c.3374C= (p.Thr1125=) c.4094C= (p.Thr1365=) | |
| 17 | g.50185605G>T | CA400190591 | COL1A1 | c.4292C>A (p.Thr1431Asn) c.4022C>A (p.Thr1341Asn) c.3374C>A (p.Thr1125Asn) c.4094C>A (p.Thr1365Asn) | |
| 17 | g.50185606T>A | CA400190596 | COL1A1 | c.4291A>T (p.Thr1431Ser) c.4021A>T (p.Thr1341Ser) c.3373A>T (p.Thr1125Ser) c.4093A>T (p.Thr1365Ser) | |
| 17 | g.50185606T>C | CA400190597 | COL1A1 | c.4291A>G (p.Thr1431Ala) c.4021A>G (p.Thr1341Ala) c.3373A>G (p.Thr1125Ala) c.4093A>G (p.Thr1365Ala) | gnomAD v4 COSMIC |
| 17 | g.50185606T>G | CA291542769 | COL1A1 | c.4291A>C (p.Thr1431Pro) c.4021A>C (p.Thr1341Pro) c.3373A>C (p.Thr1125Pro) c.4093A>C (p.Thr1365Pro) | dbSNP |
| 17 | g.50185606T= | CA2263913737 | COL1A1 | c.4291A= (p.Thr1431=) c.4021A= (p.Thr1341=) c.3373A= (p.Thr1125=) c.4093A= (p.Thr1365=) | |
| 17 | g.50185609dup | CA2695226422 | COL1A1 | c.4291dup (p.Thr1431AsnfsTer?) c.4021dup (p.Thr1341AsnfsTer?) c.3373dup (p.Thr1125AsnfsTer?) c.4093dup (p.Thr1365AsnfsTer?) | |
| 17 | g.50185609del | CA2499224705 | COL1A1 | c.4291del (p.Thr1431ProfsTer?) c.4021del (p.Thr1341ProfsTer?) c.3373del (p.Thr1125ProfsTer?) c.4093del (p.Thr1365ProfsTer?) | ClinVar dbSNP |
| 17 | g.50185607T>A | CA400190600 | COL1A1 | c.4290A>T (p.Lys1430Asn) c.4020A>T (p.Lys1340Asn) c.3372A>T (p.Lys1124Asn) c.4092A>T (p.Lys1364Asn) | |
| 17 | g.50185607T>C | CA500991435 | COL1A1 | c.4290A>G (p.Lys1430=) c.4020A>G (p.Lys1340=) c.3372A>G (p.Lys1124=) c.4092A>G (p.Lys1364=) | |
| 17 | g.50185607T>G | CA400190602 | COL1A1 | c.4290A>C (p.Lys1430Asn) c.4020A>C (p.Lys1340Asn) c.3372A>C (p.Lys1124Asn) c.4092A>C (p.Lys1364Asn) | |
| 17 | g.50185608T>A | CA400190604 | COL1A1 | c.4289A>T (p.Lys1430Ile) c.4019A>T (p.Lys1340Ile) c.3371A>T (p.Lys1124Ile) c.4091A>T (p.Lys1364Ile) | |
| 17 | g.50185608T>C | CA400190605 | COL1A1 | c.4289A>G (p.Lys1430Arg) c.4019A>G (p.Lys1340Arg) c.3371A>G (p.Lys1124Arg) c.4091A>G (p.Lys1364Arg) | |
| 17 | g.50185608T>G | CA400190607 | COL1A1 | c.4289A>C (p.Lys1430Thr) c.4019A>C (p.Lys1340Thr) c.3371A>C (p.Lys1124Thr) c.4091A>C (p.Lys1364Thr) | |
| 17 | g.50185609T>A | CA400190609 | COL1A1 | c.4288A>T (p.Lys1430Ter) c.4018A>T (p.Lys1340Ter) c.3370A>T (p.Lys1124Ter) c.4090A>T (p.Lys1364Ter) | |
| 17 | g.50185609T>C | CA400190612 | COL1A1 | c.4288A>G (p.Lys1430Glu) c.4018A>G (p.Lys1340Glu) c.3370A>G (p.Lys1124Glu) c.4090A>G (p.Lys1364Glu) | |
| 17 | g.50185609T>G | CA400190615 | COL1A1 | c.4288A>C (p.Lys1430Gln) c.4018A>C (p.Lys1340Gln) c.3370A>C (p.Lys1124Gln) c.4090A>C (p.Lys1364Gln) | |
| 17 | g.50185610G>A | CA500991440 | COL1A1 | c.4287C>T (p.Tyr1429=) c.4017C>T (p.Tyr1339=) c.3369C>T (p.Tyr1123=) c.4089C>T (p.Tyr1363=) | |
| 17 | g.50185610G>C | CA400190617 | COL1A1 | c.4287C>G (p.Tyr1429Ter) c.4017C>G (p.Tyr1339Ter) c.3369C>G (p.Tyr1123Ter) c.4089C>G (p.Tyr1363Ter) | |
| 17 | g.50185610G>T | CA400190621 | COL1A1 | c.4287C>A (p.Tyr1429Ter) c.4017C>A (p.Tyr1339Ter) c.3369C>A (p.Tyr1123Ter) c.4089C>A (p.Tyr1363Ter) | |
| 17 | g.50185611T>A | CA400190623 | COL1A1 | c.4286A>T (p.Tyr1429Phe) c.4016A>T (p.Tyr1339Phe) c.3368A>T (p.Tyr1123Phe) c.4088A>T (p.Tyr1363Phe) | |
| 17 | g.50185611T>C | CA400190625 | COL1A1 | c.4286A>G (p.Tyr1429Cys) c.4016A>G (p.Tyr1339Cys) c.3368A>G (p.Tyr1123Cys) c.4088A>G (p.Tyr1363Cys) | gnomAD v4 |
| 17 | g.50185611T>G | CA400190626 | COL1A1 | c.4286A>C (p.Tyr1429Ser) c.4016A>C (p.Tyr1339Ser) c.3368A>C (p.Tyr1123Ser) c.4088A>C (p.Tyr1363Ser) | |
| 17 | g.50185612A= | CA2263913738 | COL1A1 | c.4285T= (p.Tyr1429=) c.4015T= (p.Tyr1339=) c.3367T= (p.Tyr1123=) c.4087T= (p.Tyr1363=) | |
| 17 | g.50185612A>C | CA400190634 | COL1A1 | c.4285T>G (p.Tyr1429Asp) c.4015T>G (p.Tyr1339Asp) c.3367T>G (p.Tyr1123Asp) c.4087T>G (p.Tyr1363Asp) | |
| 17 | g.50185612A>G | CA400190631 | COL1A1 | c.4285T>C (p.Tyr1429His) c.4015T>C (p.Tyr1339His) c.3367T>C (p.Tyr1123His) c.4087T>C (p.Tyr1363His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50185612A>T | CA400190633 | COL1A1 | c.4285T>A (p.Tyr1429Asn) c.4015T>A (p.Tyr1339Asn) c.3367T>A (p.Tyr1123Asn) c.4087T>A (p.Tyr1363Asn) | |
| 17 | g.50185613T>A | CA400190637 | COL1A1 | c.4284A>T (p.Glu1428Asp) c.4014A>T (p.Glu1338Asp) c.3366A>T (p.Glu1122Asp) c.4086A>T (p.Glu1362Asp) | |
| 17 | g.50185613T>C | CA500991447 | COL1A1 | c.4284A>G (p.Glu1428=) c.4014A>G (p.Glu1338=) c.3366A>G (p.Glu1122=) c.4086A>G (p.Glu1362=) | |
| 17 | g.50185613T>G | CA400190641 | COL1A1 | c.4284A>C (p.Glu1428Asp) c.4014A>C (p.Glu1338Asp) c.3366A>C (p.Glu1122Asp) c.4086A>C (p.Glu1362Asp) | |
| 17 | g.50185614T>A | CA400190644 | COL1A1 | c.4283A>T (p.Glu1428Val) c.4013A>T (p.Glu1338Val) c.3365A>T (p.Glu1122Val) c.4085A>T (p.Glu1362Val) | |
| 17 | g.50185614T>C | CA400190645 | COL1A1 | c.4283A>G (p.Glu1428Gly) c.4013A>G (p.Glu1338Gly) c.3365A>G (p.Glu1122Gly) c.4085A>G (p.Glu1362Gly) | |
| 17 | g.50185614T>G | CA400190646 | COL1A1 | c.4283A>C (p.Glu1428Ala) c.4013A>C (p.Glu1338Ala) c.3365A>C (p.Glu1122Ala) c.4085A>C (p.Glu1362Ala) | |
| 17 | g.50185617_50185620del | CA2695226423 | COL1A1 | c.4280_4283del (p.Ile1427AsnfsTer?) c.4010_4013del (p.Ile1337AsnfsTer?) c.3362_3365del (p.Ile1121AsnfsTer?) c.4082_4085del (p.Ile1361AsnfsTer?) | |
| 17 | g.50185615C>A | CA400190650 | COL1A1 | c.4282G>T (p.Glu1428Ter) c.4012G>T (p.Glu1338Ter) c.3364G>T (p.Glu1122Ter) c.4084G>T (p.Glu1362Ter) | |
| 17 | g.50185615C= | CA2263913739 | COL1A1 | c.4282G= (p.Glu1428=) c.4012G= (p.Glu1338=) c.3364G= (p.Glu1122=) c.4084G= (p.Glu1362=) | |
| 17 | g.50185615C>G | CA400190653 | COL1A1 | c.4282G>C (p.Glu1428Gln) c.4012G>C (p.Glu1338Gln) c.3364G>C (p.Glu1122Gln) c.4084G>C (p.Glu1362Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.50185615C>T | CA400190655 | COL1A1 | c.4282G>A (p.Glu1428Lys) c.4012G>A (p.Glu1338Lys) c.3364G>A (p.Glu1122Lys) c.4084G>A (p.Glu1362Lys) | |
| 17 | g.50185616A= | CA2263913740 | COL1A1 | c.4281T= (p.Ile1427=) c.4011T= (p.Ile1337=) c.3363T= (p.Ile1121=) c.4083T= (p.Ile1361=) | |
| 17 | g.50185616A>C | CA400190659 | COL1A1 | c.4281T>G (p.Ile1427Met) c.4011T>G (p.Ile1337Met) c.3363T>G (p.Ile1121Met) c.4083T>G (p.Ile1361Met) | |
| 17 | g.50185616A>G | CA8644191 | COL1A1 | c.4281T>C (p.Ile1427=) c.4011T>C (p.Ile1337=) c.3363T>C (p.Ile1121=) c.4083T>C (p.Ile1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185616A>T | CA500991451 | COL1A1 | c.4281T>A (p.Ile1427=) c.4011T>A (p.Ile1337=) c.3363T>A (p.Ile1121=) c.4083T>A (p.Ile1361=) | |
| 17 | g.50185617A>C | CA400190666 | COL1A1 | c.4280T>G (p.Ile1427Ser) c.4010T>G (p.Ile1337Ser) c.3362T>G (p.Ile1121Ser) c.4082T>G (p.Ile1361Ser) | |
| 17 | g.50185617A>G | CA400190669 | COL1A1 | c.4280T>C (p.Ile1427Thr) c.4010T>C (p.Ile1337Thr) c.3362T>C (p.Ile1121Thr) c.4082T>C (p.Ile1361Thr) | |
| 17 | g.50185617A>T | CA400190663 | COL1A1 | c.4280T>A (p.Ile1427Asn) c.4010T>A (p.Ile1337Asn) c.3362T>A (p.Ile1121Asn) c.4082T>A (p.Ile1361Asn) | |
| 17 | g.50185618T>A | CA400190672 | COL1A1 | c.4279A>T (p.Ile1427Phe) c.4009A>T (p.Ile1337Phe) c.3361A>T (p.Ile1121Phe) c.4081A>T (p.Ile1361Phe) | |
| 17 | g.50185618T>C | CA400190676 | COL1A1 | c.4279A>G (p.Ile1427Val) c.4009A>G (p.Ile1337Val) c.3361A>G (p.Ile1121Val) c.4081A>G (p.Ile1361Val) | gnomAD v4 |
| 17 | g.50185618T>G | CA400190678 | COL1A1 | c.4279A>C (p.Ile1427Leu) c.4009A>C (p.Ile1337Leu) c.3361A>C (p.Ile1121Leu) c.4081A>C (p.Ile1361Leu) | |
| 17 | g.50185619C>A | CA500991458 | COL1A1 | c.4278G>T (p.Val1426=) c.4008G>T (p.Val1336=) c.3360G>T (p.Val1120=) c.4080G>T (p.Val1360=) | |
| 17 | g.50185619C= | CA2263913741 | COL1A1 | c.4278G= (p.Val1426=) c.4008G= (p.Val1336=) c.3360G= (p.Val1120=) c.4080G= (p.Val1360=) | |
| 17 | g.50185619C>G | CA500991457 | COL1A1 | c.4278G>C (p.Val1426=) c.4008G>C (p.Val1336=) c.3360G>C (p.Val1120=) c.4080G>C (p.Val1360=) | dbSNP |
| 17 | g.50185619C>T | CA500991455 | COL1A1 | c.4278G>A (p.Val1426=) c.4008G>A (p.Val1336=) c.3360G>A (p.Val1120=) c.4080G>A (p.Val1360=) | |
| 17 | g.50185620A>C | CA400190682 | COL1A1 | c.4277T>G (p.Val1426Gly) c.4007T>G (p.Val1336Gly) c.3359T>G (p.Val1120Gly) c.4079T>G (p.Val1360Gly) | |
| 17 | g.50185620A>G | CA400190688 | COL1A1 | c.4277T>C (p.Val1426Ala) c.4007T>C (p.Val1336Ala) c.3359T>C (p.Val1120Ala) c.4079T>C (p.Val1360Ala) | |
| 17 | g.50185620A>T | CA400190691 | COL1A1 | c.4277T>A (p.Val1426Glu) c.4007T>A (p.Val1336Glu) c.3359T>A (p.Val1120Glu) c.4079T>A (p.Val1360Glu) | |
| 17 | g.50185621C>A | CA400190694 | COL1A1 | c.4276G>T (p.Val1426Leu) c.4006G>T (p.Val1336Leu) c.3358G>T (p.Val1120Leu) c.4078G>T (p.Val1360Leu) | |
| 17 | g.50185621C= | CA2263913742 | COL1A1 | c.4276G= (p.Val1426=) c.4006G= (p.Val1336=) c.3358G= (p.Val1120=) c.4078G= (p.Val1360=) | |
| 17 | g.50185621C>G | CA400190697 | COL1A1 | c.4276G>C (p.Val1426Leu) c.4006G>C (p.Val1336Leu) c.3358G>C (p.Val1120Leu) c.4078G>C (p.Val1360Leu) | |
| 17 | g.50185621C>T | CA8644192 | COL1A1 | c.4276G>A (p.Val1426Met) c.4006G>A (p.Val1336Met) c.3358G>A (p.Val1120Met) c.4078G>A (p.Val1360Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185622T>A | CA291542770 | COL1A1 | c.4275A>T (p.Thr1425=) c.4005A>T (p.Thr1335=) c.3357A>T (p.Thr1119=) c.4077A>T (p.Thr1359=) | dbSNP |
| 17 | g.50185622T>C | CA500991463 | COL1A1 | c.4275A>G (p.Thr1425=) c.4005A>G (p.Thr1335=) c.3357A>G (p.Thr1119=) c.4077A>G (p.Thr1359=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185622T>G | CA500991462 | COL1A1 | c.4275A>C (p.Thr1425=) c.4005A>C (p.Thr1335=) c.3357A>C (p.Thr1119=) c.4077A>C (p.Thr1359=) | |
| 17 | g.50185622T= | CA2263913743 | COL1A1 | c.4275A= (p.Thr1425=) c.4005A= (p.Thr1335=) c.3357A= (p.Thr1119=) c.4077A= (p.Thr1359=) | |
| 17 | g.50185623G>A | CA400190704 | COL1A1 | c.4274C>T (p.Thr1425Ile) c.4004C>T (p.Thr1335Ile) c.3356C>T (p.Thr1119Ile) c.4076C>T (p.Thr1359Ile) | ClinVar dbSNP |
| 17 | g.50185623G>C | CA400190706 | COL1A1 | c.4274C>G (p.Thr1425Arg) c.4004C>G (p.Thr1335Arg) c.3356C>G (p.Thr1119Arg) c.4076C>G (p.Thr1359Arg) | |
| 17 | g.50185623G>T | CA400190710 | COL1A1 | c.4274C>A (p.Thr1425Lys) c.4004C>A (p.Thr1335Lys) c.3356C>A (p.Thr1119Lys) c.4076C>A (p.Thr1359Lys) | |
| 17 | g.50185624T>A | CA400190713 | COL1A1 | c.4273A>T (p.Thr1425Ser) c.4003A>T (p.Thr1335Ser) c.3355A>T (p.Thr1119Ser) c.4075A>T (p.Thr1359Ser) | |
| 17 | g.50185624T>C | CA400190718 | COL1A1 | c.4273A>G (p.Thr1425Ala) c.4003A>G (p.Thr1335Ala) c.3355A>G (p.Thr1119Ala) c.4075A>G (p.Thr1359Ala) | |
| 17 | g.50185624T>G | CA400190715 | COL1A1 | c.4273A>C (p.Thr1425Pro) c.4003A>C (p.Thr1335Pro) c.3355A>C (p.Thr1119Pro) c.4075A>C (p.Thr1359Pro) | |
| 17 | g.50185625C>A | CA400190722 | COL1A1 | c.4272G>T (p.Lys1424Asn) c.4002G>T (p.Lys1334Asn) c.3354G>T (p.Lys1118Asn) c.4074G>T (p.Lys1358Asn) | |
| 17 | g.50185625C= | CA2263913744 | COL1A1 | c.4272G= (p.Lys1424=) c.4002G= (p.Lys1334=) c.3354G= (p.Lys1118=) c.4074G= (p.Lys1358=) | |
| 17 | g.50185625C>G | CA400190726 | COL1A1 | c.4272G>C (p.Lys1424Asn) c.4002G>C (p.Lys1334Asn) c.3354G>C (p.Lys1118Asn) c.4074G>C (p.Lys1358Asn) | |
| 17 | g.50185625C>T | CA500991467 | COL1A1 | c.4272G>A (p.Lys1424=) c.4002G>A (p.Lys1334=) c.3354G>A (p.Lys1118=) c.4074G>A (p.Lys1358=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185626T>A | CA400190731 | COL1A1 | c.4271A>T (p.Lys1424Met) c.4001A>T (p.Lys1334Met) c.3353A>T (p.Lys1118Met) c.4073A>T (p.Lys1358Met) | |
| 17 | g.50185626T>C | CA400190734 | COL1A1 | c.4271A>G (p.Lys1424Arg) c.4001A>G (p.Lys1334Arg) c.3353A>G (p.Lys1118Arg) c.4073A>G (p.Lys1358Arg) | gnomAD v4 |
| 17 | g.50185626T>G | CA400190738 | COL1A1 | c.4271A>C (p.Lys1424Thr) c.4001A>C (p.Lys1334Thr) c.3353A>C (p.Lys1118Thr) c.4073A>C (p.Lys1358Thr) | |
| 17 | g.50185627T>A | CA400190742 | COL1A1 | c.4270A>T (p.Lys1424Ter) c.4000A>T (p.Lys1334Ter) c.3352A>T (p.Lys1118Ter) c.4072A>T (p.Lys1358Ter) | |
| 17 | g.50185627T>C | CA400190746 | COL1A1 | c.4270A>G (p.Lys1424Glu) c.4000A>G (p.Lys1334Glu) c.3352A>G (p.Lys1118Glu) c.4072A>G (p.Lys1358Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185627T>G | CA400190758 | COL1A1 | c.4270A>C (p.Lys1424Gln) c.4000A>C (p.Lys1334Gln) c.3352A>C (p.Lys1118Gln) c.4072A>C (p.Lys1358Gln) | |
| 17 | g.50185627T= | CA2263913745 | COL1A1 | c.4270A= (p.Lys1424=) c.4000A= (p.Lys1334=) c.3352A= (p.Lys1118=) c.4072A= (p.Lys1358=) | |
| 17 | g.50185628G>A | CA500991471 | COL1A1 | c.4269C>T (p.Gly1423=) c.3999C>T (p.Gly1333=) c.3351C>T (p.Gly1117=) c.4071C>T (p.Gly1357=) | |
| 17 | g.50185628G>C | CA500991473 | COL1A1 | c.4269C>G (p.Gly1423=) c.3999C>G (p.Gly1333=) c.3351C>G (p.Gly1117=) c.4071C>G (p.Gly1357=) | |
| 17 | g.50185628G>T | CA500991475 | COL1A1 | c.4269C>A (p.Gly1423=) c.3999C>A (p.Gly1333=) c.3351C>A (p.Gly1117=) c.4071C>A (p.Gly1357=) | |
| 17 | g.50185629C>A | CA400190761 | COL1A1 | c.4268G>T (p.Gly1423Val) c.3998G>T (p.Gly1333Val) c.3350G>T (p.Gly1117Val) c.4070G>T (p.Gly1357Val) | |
| 17 | g.50185629C>G | CA400190772 | COL1A1 | c.4268G>C (p.Gly1423Ala) c.3998G>C (p.Gly1333Ala) c.3350G>C (p.Gly1117Ala) c.4070G>C (p.Gly1357Ala) | |
| 17 | g.50185629C>T | CA400190774 | COL1A1 | c.4268G>A (p.Gly1423Asp) c.3998G>A (p.Gly1333Asp) c.3350G>A (p.Gly1117Asp) c.4070G>A (p.Gly1357Asp) | COSMIC |
| 17 | g.50185630C>A | CA400190789 | COL1A1 | c.4267G>T (p.Gly1423Cys) c.3997G>T (p.Gly1333Cys) c.3349G>T (p.Gly1117Cys) c.4069G>T (p.Gly1357Cys) | |
| 17 | g.50185630C= | CA2263913746 | COL1A1 | c.4267G= (p.Gly1423=) c.3997G= (p.Gly1333=) c.3349G= (p.Gly1117=) c.4069G= (p.Gly1357=) | |
| 17 | g.50185630C>G | CA400190792 | COL1A1 | c.4267G>C (p.Gly1423Arg) c.3997G>C (p.Gly1333Arg) c.3349G>C (p.Gly1117Arg) c.4069G>C (p.Gly1357Arg) | |
| 17 | g.50185630C>T | CA400190780 | COL1A1 | c.4267G>A (p.Gly1423Ser) c.3997G>A (p.Gly1333Ser) c.3349G>A (p.Gly1117Ser) c.4069G>A (p.Gly1357Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185631C>A | CA400190796 | COL1A1 | c.4266G>T (p.Trp1422Cys) c.3996G>T (p.Trp1332Cys) c.3348G>T (p.Trp1116Cys) c.4068G>T (p.Trp1356Cys) | |
| 17 | g.50185631C>G | CA400190800 | COL1A1 | c.4266G>C (p.Trp1422Cys) c.3996G>C (p.Trp1332Cys) c.3348G>C (p.Trp1116Cys) c.4068G>C (p.Trp1356Cys) | |
| 17 | g.50185631C>T | CA400190809 | COL1A1 | c.4266G>A (p.Trp1422Ter) c.3996G>A (p.Trp1332Ter) c.3348G>A (p.Trp1116Ter) c.4068G>A (p.Trp1356Ter) | |
| 17 | g.50185632C>A | CA400190815 | COL1A1 | c.4265G>T (p.Trp1422Leu) c.3995G>T (p.Trp1332Leu) c.3347G>T (p.Trp1116Leu) c.4067G>T (p.Trp1356Leu) | |
| 17 | g.50185632C= | CA2263913747 | COL1A1 | c.4265G= (p.Trp1422=) c.3995G= (p.Trp1332=) c.3347G= (p.Trp1116=) c.4067G= (p.Trp1356=) | |
| 17 | g.50185632C>G | CA400190819 | COL1A1 | c.4265G>C (p.Trp1422Ser) c.3995G>C (p.Trp1332Ser) c.3347G>C (p.Trp1116Ser) c.4067G>C (p.Trp1356Ser) | dbSNP |
| 17 | g.50185632C>T | CA400190823 | COL1A1 | c.4265G>A (p.Trp1422Ter) c.3995G>A (p.Trp1332Ter) c.3347G>A (p.Trp1116Ter) c.4067G>A (p.Trp1356Ter) | |
| 17 | g.50185633A>C | CA400190841 | COL1A1 | c.4264T>G (p.Trp1422Gly) c.3994T>G (p.Trp1332Gly) c.3346T>G (p.Trp1116Gly) c.4066T>G (p.Trp1356Gly) | |
| 17 | g.50185633A>G | CA400190829 | COL1A1 | c.4264T>C (p.Trp1422Arg) c.3994T>C (p.Trp1332Arg) c.3346T>C (p.Trp1116Arg) c.4066T>C (p.Trp1356Arg) | |
| 17 | g.50185633A>T | CA400190831 | COL1A1 | c.4264T>A (p.Trp1422Arg) c.3994T>A (p.Trp1332Arg) c.3346T>A (p.Trp1116Arg) c.4066T>A (p.Trp1356Arg) | |
| 17 | g.50185634G>A | CA291542771 | COL1A1 | c.4263C>T (p.Ala1421=) c.3993C>T (p.Ala1331=) c.3345C>T (p.Ala1115=) c.4065C>T (p.Ala1355=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185634G>C | CA500991482 | COL1A1 | c.4263C>G (p.Ala1421=) c.3993C>G (p.Ala1331=) c.3345C>G (p.Ala1115=) c.4065C>G (p.Ala1355=) | |
| 17 | g.50185634G= | CA2263913748 | COL1A1 | c.4263C= (p.Ala1421=) c.3993C= (p.Ala1331=) c.3345C= (p.Ala1115=) c.4065C= (p.Ala1355=) | |
| 17 | g.50185634G>T | CA500991483 | COL1A1 | c.4263C>A (p.Ala1421=) c.3993C>A (p.Ala1331=) c.3345C>A (p.Ala1115=) c.4065C>A (p.Ala1355=) | |
| 17 | g.50185635G>A | CA400190844 | COL1A1 | c.4262C>T (p.Ala1421Val) c.3992C>T (p.Ala1331Val) c.3344C>T (p.Ala1115Val) c.4064C>T (p.Ala1355Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50185635G>C | CA8644193 | COL1A1 | c.4262C>G (p.Ala1421Gly) c.3992C>G (p.Ala1331Gly) c.3344C>G (p.Ala1115Gly) c.4064C>G (p.Ala1355Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185635G= | CA2263913749 | COL1A1 | c.4262C= (p.Ala1421=) c.3992C= (p.Ala1331=) c.3344C= (p.Ala1115=) c.4064C= (p.Ala1355=) | |
| 17 | g.50185635G>T | CA400190852 | COL1A1 | c.4262C>A (p.Ala1421Asp) c.3992C>A (p.Ala1331Asp) c.3344C>A (p.Ala1115Asp) c.4064C>A (p.Ala1355Asp) | |
| 17 | g.50185636C>A | CA400190856 | COL1A1 | c.4261G>T (p.Ala1421Ser) c.3991G>T (p.Ala1331Ser) c.3343G>T (p.Ala1115Ser) c.4063G>T (p.Ala1355Ser) | |
| 17 | g.50185636C= | CA2263913750 | COL1A1 | c.4261G= (p.Ala1421=) c.3991G= (p.Ala1331=) c.3343G= (p.Ala1115=) c.4063G= (p.Ala1355=) | |
| 17 | g.50185636C>G | CA400190860 | COL1A1 | c.4261G>C (p.Ala1421Pro) c.3991G>C (p.Ala1331Pro) c.3343G>C (p.Ala1115Pro) c.4063G>C (p.Ala1355Pro) | |
| 17 | g.50185636C>T | CA400190864 | COL1A1 | c.4261G>A (p.Ala1421Thr) c.3991G>A (p.Ala1331Thr) c.3343G>A (p.Ala1115Thr) c.4063G>A (p.Ala1355Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185637T>A | CA500991484 | COL1A1 | c.4260A>T (p.Gly1420=) c.3990A>T (p.Gly1330=) c.3342A>T (p.Gly1114=) c.4062A>T (p.Gly1354=) | ClinVar dbSNP |
| 17 | g.50185637T>C | CA500991486 | COL1A1 | c.4260A>G (p.Gly1420=) c.3990A>G (p.Gly1330=) c.3342A>G (p.Gly1114=) c.4062A>G (p.Gly1354=) | |
| 17 | g.50185637T>G | CA500991485 | COL1A1 | c.4260A>C (p.Gly1420=) c.3990A>C (p.Gly1330=) c.3342A>C (p.Gly1114=) c.4062A>C (p.Gly1354=) | dbSNP |
| 17 | g.50185637T= | CA2263913751 | COL1A1 | c.4260A= (p.Gly1420=) c.3990A= (p.Gly1330=) c.3342A= (p.Gly1114=) c.4062A= (p.Gly1354=) | |
| 17 | g.50185638C>A | CA400190869 | COL1A1 | c.4259G>T (p.Gly1420Val) c.3989G>T (p.Gly1330Val) c.3341G>T (p.Gly1114Val) c.4061G>T (p.Gly1354Val) | |
| 17 | g.50185638C>G | CA400190876 | COL1A1 | c.4259G>C (p.Gly1420Ala) c.3989G>C (p.Gly1330Ala) c.3341G>C (p.Gly1114Ala) c.4061G>C (p.Gly1354Ala) | |
| 17 | g.50185638C>T | CA400190873 | COL1A1 | c.4259G>A (p.Gly1420Glu) c.3989G>A (p.Gly1330Glu) c.3341G>A (p.Gly1114Glu) c.4061G>A (p.Gly1354Glu) | |
| 17 | g.50185639C>A | CA400190880 | COL1A1 | c.4258G>T (p.Gly1420Ter) c.3988G>T (p.Gly1330Ter) c.3340G>T (p.Gly1114Ter) c.4060G>T (p.Gly1354Ter) | |
| 17 | g.50185639C= | CA2263913752 | COL1A1 | c.4258G= (p.Gly1420=) c.3988G= (p.Gly1330=) c.3340G= (p.Gly1114=) c.4060G= (p.Gly1354=) | |
| 17 | g.50185639C>G | CA400190882 | COL1A1 | c.4258G>C (p.Gly1420Arg) c.3988G>C (p.Gly1330Arg) c.3340G>C (p.Gly1114Arg) c.4060G>C (p.Gly1354Arg) | dbSNP |
| 17 | g.50185639C>T | CA8644194 | COL1A1 | c.4258G>A (p.Gly1420Arg) c.3988G>A (p.Gly1330Arg) c.3340G>A (p.Gly1114Arg) c.4060G>A (p.Gly1354Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185640G>A | CA8644195 | COL1A1 | c.4257C>T (p.Thr1419=) c.3987C>T (p.Thr1329=) c.3339C>T (p.Thr1113=) c.4059C>T (p.Thr1353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185640G>C | CA500991488 | COL1A1 | c.4257C>G (p.Thr1419=) c.3987C>G (p.Thr1329=) c.3339C>G (p.Thr1113=) c.4059C>G (p.Thr1353=) | |
| 17 | g.50185640G= | CA2263913753 | COL1A1 | c.4257C= (p.Thr1419=) c.3987C= (p.Thr1329=) c.3339C= (p.Thr1113=) c.4059C= (p.Thr1353=) | |
| 17 | g.50185640G>T | CA500991489 | COL1A1 | c.4257C>A (p.Thr1419=) c.3987C>A (p.Thr1329=) c.3339C>A (p.Thr1113=) c.4059C>A (p.Thr1353=) | |
| 17 | g.50185641G>A | CA400190896 | COL1A1 | c.4256C>T (p.Thr1419Ile) c.3986C>T (p.Thr1329Ile) c.3338C>T (p.Thr1113Ile) c.4058C>T (p.Thr1353Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.50185641G>C | CA400190900 | COL1A1 | c.4256C>G (p.Thr1419Ser) c.3986C>G (p.Thr1329Ser) c.3338C>G (p.Thr1113Ser) c.4058C>G (p.Thr1353Ser) | |
| 17 | g.50185641G= | CA2263913754 | COL1A1 | c.4256C= (p.Thr1419=) c.3986C= (p.Thr1329=) c.3338C= (p.Thr1113=) c.4058C= (p.Thr1353=) | |
| 17 | g.50185641G>T | CA400190903 | COL1A1 | c.4256C>A (p.Thr1419Asn) c.3986C>A (p.Thr1329Asn) c.3338C>A (p.Thr1113Asn) c.4058C>A (p.Thr1353Asn) | |
| 17 | g.50185642T>A | CA400190909 | COL1A1 | c.4255A>T (p.Thr1419Ser) c.3985A>T (p.Thr1329Ser) c.3337A>T (p.Thr1113Ser) c.4057A>T (p.Thr1353Ser) | |
| 17 | g.50185642T>C | CA400190914 | COL1A1 | c.4255A>G (p.Thr1419Ala) c.3985A>G (p.Thr1329Ala) c.3337A>G (p.Thr1113Ala) c.4057A>G (p.Thr1353Ala) | |
| 17 | g.50185642T>G | CA400190918 | COL1A1 | c.4255A>C (p.Thr1419Pro) c.3985A>C (p.Thr1329Pro) c.3337A>C (p.Thr1113Pro) c.4057A>C (p.Thr1353Pro) | dbSNP |
| 17 | g.50185642T= | CA2263913755 | COL1A1 | c.4255A= (p.Thr1419=) c.3985A= (p.Thr1329=) c.3337A= (p.Thr1113=) c.4057A= (p.Thr1353=) | |
| 17 | g.50185643G>A | CA500991494 | COL1A1 | c.4254C>T (p.His1418=) c.3984C>T (p.His1328=) c.3336C>T (p.His1112=) c.4056C>T (p.His1352=) | |
| 17 | g.50185643G>C | CA400190932 | COL1A1 | c.4254C>G (p.His1418Gln) c.3984C>G (p.His1328Gln) c.3336C>G (p.His1112Gln) c.4056C>G (p.His1352Gln) | |
| 17 | g.50185643G>T | CA400190938 | COL1A1 | c.4254C>A (p.His1418Gln) c.3984C>A (p.His1328Gln) c.3336C>A (p.His1112Gln) c.4056C>A (p.His1352Gln) | |
| 17 | g.50185644T>A | CA400190943 | COL1A1 | c.4253A>T (p.His1418Leu) c.3983A>T (p.His1328Leu) c.3335A>T (p.His1112Leu) c.4055A>T (p.His1352Leu) | |
| 17 | g.50185644T>C | CA400190950 | COL1A1 | c.4253A>G (p.His1418Arg) c.3983A>G (p.His1328Arg) c.3335A>G (p.His1112Arg) c.4055A>G (p.His1352Arg) | ClinVar |
| 17 | g.50185644T>G | CA400190948 | COL1A1 | c.4253A>C (p.His1418Pro) c.3983A>C (p.His1328Pro) c.3335A>C (p.His1112Pro) c.4055A>C (p.His1352Pro) | |
| 17 | g.50185645G>A | CA400190955 | COL1A1 | c.4252C>T (p.His1418Tyr) c.3982C>T (p.His1328Tyr) c.3334C>T (p.His1112Tyr) c.4054C>T (p.His1352Tyr) | gnomAD v4 |
| 17 | g.50185645G>C | CA400190958 | COL1A1 | c.4252C>G (p.His1418Asp) c.3982C>G (p.His1328Asp) c.3334C>G (p.His1112Asp) c.4054C>G (p.His1352Asp) | |
| 17 | g.50185645G>T | CA400190963 | COL1A1 | c.4252C>A (p.His1418Asn) c.3982C>A (p.His1328Asn) c.3334C>A (p.His1112Asn) c.4054C>A (p.His1352Asn) | COSMIC |
| 17 | g.50185646A>C | CA400190968 | COL1A1 | c.4251T>G (p.Ser1417Arg) c.3981T>G (p.Ser1327Arg) c.3333T>G (p.Ser1111Arg) c.4053T>G (p.Ser1351Arg) | gnomAD v3 gnomAD v4 |
| 17 | g.50185646A>G | CA500991496 | COL1A1 | c.4251T>C (p.Ser1417=) c.3981T>C (p.Ser1327=) c.3333T>C (p.Ser1111=) c.4053T>C (p.Ser1351=) | |
| 17 | g.50185646A>T | CA400190973 | COL1A1 | c.4251T>A (p.Ser1417Arg) c.3981T>A (p.Ser1327Arg) c.3333T>A (p.Ser1111Arg) c.4053T>A (p.Ser1351Arg) | |
| 17 | g.50185647C>A | CA400190993 | COL1A1 | c.4250G>T (p.Ser1417Ile) c.3980G>T (p.Ser1327Ile) c.3332G>T (p.Ser1111Ile) c.4052G>T (p.Ser1351Ile) | |
| 17 | g.50185647C>G | CA400190980 | COL1A1 | c.4250G>C (p.Ser1417Thr) c.3980G>C (p.Ser1327Thr) c.3332G>C (p.Ser1111Thr) c.4052G>C (p.Ser1351Thr) | |
| 17 | g.50185647C>T | CA400190977 | COL1A1 | c.4250G>A (p.Ser1417Asn) c.3980G>A (p.Ser1327Asn) c.3332G>A (p.Ser1111Asn) c.4052G>A (p.Ser1351Asn) | |
| 17 | g.50185648T>A | CA400190996 | COL1A1 | c.4249A>T (p.Ser1417Cys) c.3979A>T (p.Ser1327Cys) c.3331A>T (p.Ser1111Cys) c.4051A>T (p.Ser1351Cys) | |
| 17 | g.50185648T>C | CA400191001 | COL1A1 | c.4249A>G (p.Ser1417Gly) c.3979A>G (p.Ser1327Gly) c.3331A>G (p.Ser1111Gly) c.4051A>G (p.Ser1351Gly) | |
| 17 | g.50185648T>G | CA400191005 | COL1A1 | c.4249A>C (p.Ser1417Arg) c.3979A>C (p.Ser1327Arg) c.3331A>C (p.Ser1111Arg) c.4051A>C (p.Ser1351Arg) | |
| 17 | g.50185649C>A | CA400191009 | COL1A1 | c.4249-1G>T (n.4249-1G>T) c.3979-1G>T (n.3979-1G>T) c.3331-1G>T (n.3331-1G>T) c.4051-1G>T (n.4051-1G>T) | |
| 17 | g.50185649C>G | CA400191014 | COL1A1 | c.4249-1G>C (n.4249-1G>C) c.3979-1G>C (n.3979-1G>C) c.3331-1G>C (n.3331-1G>C) c.4051-1G>C (n.4051-1G>C) | |
| 17 | g.50185649C>T | CA400191018 | COL1A1 | c.4249-1G>A (n.4249-1G>A) c.3979-1G>A (n.3979-1G>A) c.3331-1G>A (n.3331-1G>A) c.4051-1G>A (n.4051-1G>A) | |
| 17 | g.50185650_50185778del | CA2809756914 | COL1A1 | c.4248+1_4249-1del c.3978+1_3979-1del c.3330+1_3331-1del c.4050+1_4051-1del | |
| 17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGT | CA2733839109 | COL1A1 | c.4249-2_4249-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3979-2_3979-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3331-2_3331-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.4051-2_4051-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) | dbSNP |
| 17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG | CA2809756915 | COL1A1 | c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) | |
| 17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCT | CA2809756916 | COL1A1 | c.4249-2_4249-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3979-2_3979-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.3331-2_3331-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) c.4051-2_4051-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC) | |
| 17 | g.50185650del | CA2695226428 | COL1A1 | c.4249-2del (n.4249-2del) c.3979-2del (n.3979-2del) c.3331-2del (n.3331-2del) c.4051-2del (n.4051-2del) | |
| 17 | g.50185650T>A | CA400191022 | COL1A1 | c.4249-2A>T (n.4249-2A>T) c.3979-2A>T (n.3979-2A>T) c.3331-2A>T (n.3331-2A>T) c.4051-2A>T (n.4051-2A>T) | |
| 17 | g.50185650T>C | CA400191030 | COL1A1 | c.4249-2A>G (n.4249-2A>G) c.3979-2A>G (n.3979-2A>G) c.3331-2A>G (n.3331-2A>G) c.4051-2A>G (n.4051-2A>G) | |
| 17 | g.50185650T>G | CA291542772 | COL1A1 | c.4249-2A>C (n.4249-2A>C) c.3979-2A>C (n.3979-2A>C) c.3331-2A>C (n.3331-2A>C) c.4051-2A>C (n.4051-2A>C) | dbSNP |
| 17 | g.50185650T= | CA2263913756 | COL1A1 | c.4249-2A= (n.4249-2A=) c.3979-2A= (n.3979-2A=) c.3331-2A= (n.3331-2A=) c.4051-2A= (n.4051-2A=) | |
| 17 | g.50185650_50185651del | CA2695226427 | COL1A1 | c.4249-3_4249-2del (n.4249-3_4249-2del) c.3979-3_3979-2del (n.3979-3_3979-2del) c.3331-3_3331-2del (n.3331-3_3331-2del) c.4051-3_4051-2del (n.4051-3_4051-2del) | |
| 17 | g.50185650_50185652del | CA2695226426 | COL1A1 | c.4249-4_4249-2del (n.4249-4_4249-2del) c.3979-4_3979-2del (n.3979-4_3979-2del) c.3331-4_3331-2del (n.3331-4_3331-2del) c.4051-4_4051-2del (n.4051-4_4051-2del) | |
| 17 | g.50185651G>A | CA291542773 | COL1A1 | c.4249-3C>T (n.4249-3C>T) c.3979-3C>T (n.3979-3C>T) c.3331-3C>T (n.3331-3C>T) c.4051-3C>T (n.4051-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185651G= | CA2263913757 | COL1A1 | c.4249-3C= (n.4249-3C=) c.3979-3C= (n.3979-3C=) c.3331-3C= (n.3331-3C=) c.4051-3C= (n.4051-3C=) | |
| 17 | g.50185652G>C | CA2638704486 | COL1A1 | c.4249-4C>G (n.4249-4C>G) c.3979-4C>G (n.3979-4C>G) c.3331-4C>G (n.3331-4C>G) c.4051-4C>G (n.4051-4C>G) | gnomAD v4 |
| 17 | g.50185652G= | CA2263913758 | COL1A1 | c.4249-4C= (n.4249-4C=) c.3979-4C= (n.3979-4C=) c.3331-4C= (n.3331-4C=) c.4051-4C= (n.4051-4C=) | |
| 17 | g.50185652G>T | CA626689035 | COL1A1 | c.4249-4C>A (n.4249-4C>A) c.3979-4C>A (n.3979-4C>A) c.3331-4C>A (n.3331-4C>A) c.4051-4C>A (n.4051-4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185653G>A | CA2263913760 | COL1A1 | c.4249-5C>T (n.4249-5C>T) c.3979-5C>T (n.3979-5C>T) c.3331-5C>T (n.3331-5C>T) c.4051-5C>T (n.4051-5C>T) | dbSNP gnomAD v4 |
| 17 | g.50185653G= | CA2263913759 | COL1A1 | c.4249-5C= (n.4249-5C=) c.3979-5C= (n.3979-5C=) c.3331-5C= (n.3331-5C=) c.4051-5C= (n.4051-5C=) |