Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188994199G>A | CA073941 | COL3A1 | c.1096-35G>A (n.1096-35G>A) c.1195-35G>A (n.1195-35G>A) c.194-35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994199G>C | CA2662288861 | COL3A1 | c.1096-35G>C (n.1096-35G>C) c.1195-35G>C (n.1195-35G>C) c.194-35G>C | gnomAD v4 |
2 | g.188994199G= | CA1315398407 | COL3A1 | c.1096-35G= (n.1096-35G=) c.1195-35G= (n.1195-35G=) c.194-35G= | |
2 | g.188994202C>A | CA1315398409 | COL3A1 | c.1096-32C>A (n.1096-32C>A) c.1195-32C>A (n.1195-32C>A) c.194-32C>A | dbSNP gnomAD v4 |
2 | g.188994202C= | CA1315398408 | COL3A1 | c.1096-32C= (n.1096-32C=) c.1195-32C= (n.1195-32C=) c.194-32C= | |
2 | g.188994202C>T | CA073938 | COL3A1 | c.1096-32C>T (n.1096-32C>T) c.1195-32C>T (n.1195-32C>T) c.194-32C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994203G>A | CA073932 | COL3A1 | c.1096-31G>A (n.1096-31G>A) c.1195-31G>A (n.1195-31G>A) c.194-31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994203G>C | CA073934 | COL3A1 | c.1096-31G>C (n.1096-31G>C) c.1195-31G>C (n.1195-31G>C) c.194-31G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994203G= | CA1315398410 | COL3A1 | c.1096-31G= (n.1096-31G=) c.1195-31G= (n.1195-31G=) c.194-31G= | |
2 | g.188994204G>C | CA2577185363 | COL3A1 | c.1096-30G>C (n.1096-30G>C) c.1195-30G>C (n.1195-30G>C) c.194-30G>C | |
2 | g.188994204G>T | CA2662288862 | COL3A1 | c.1096-30G>T (n.1096-30G>T) c.1195-30G>T (n.1195-30G>T) c.194-30G>T | gnomAD v4 |
2 | g.188994206T>C | CA073928 | COL3A1 | c.1096-28T>C (n.1096-28T>C) c.1195-28T>C (n.1195-28T>C) c.194-28T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994206T= | CA1315398411 | COL3A1 | c.1096-28T= (n.1096-28T=) c.1195-28T= (n.1195-28T=) c.194-28T= | |
2 | g.188994207A>G | CA2701311914 | COL3A1 | c.1096-27A>G (n.1096-27A>G) c.1195-27A>G (n.1195-27A>G) c.194-27A>G | dbSNP |
2 | g.188994208A>G | CA2662288863 | COL3A1 | c.1096-26A>G (n.1096-26A>G) c.1195-26A>G (n.1195-26A>G) c.194-26A>G | gnomAD v4 |
2 | g.188994210A= | CA1315398412 | COL3A1 | c.1096-24A= (n.1096-24A=) c.1195-24A= (n.1195-24A=) c.194-24A= | |
2 | g.188994210A>G | CA538441247 | COL3A1 | c.1096-24A>G (n.1096-24A>G) c.1195-24A>G (n.1195-24A>G) c.194-24A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994211T>C | CA538441248 | COL3A1 | c.1096-23T>C (n.1096-23T>C) c.1195-23T>C (n.1195-23T>C) c.194-23T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994211T= | CA1315398413 | COL3A1 | c.1096-23T= (n.1096-23T=) c.1195-23T= (n.1195-23T=) c.194-23T= | |
2 | g.188994213G>C | CA2753572106 | COL3A1 | c.1096-21G>C (n.1096-21G>C) c.1195-21G>C (n.1195-21G>C) c.194-21G>C | |
2 | g.188994214T>C | CA2662288864 | COL3A1 | c.1096-20T>C (n.1096-20T>C) c.1195-20T>C (n.1195-20T>C) c.194-20T>C | gnomAD v4 |
2 | g.188994214T>G | CA538441249 | COL3A1 | c.1096-20T>G (n.1096-20T>G) c.1195-20T>G (n.1195-20T>G) c.194-20T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994214T= | CA1315398414 | COL3A1 | c.1096-20T= (n.1096-20T=) c.1195-20T= (n.1195-20T=) c.194-20T= | |
2 | g.188994215G= | CA1315398415 | COL3A1 | c.1096-19G= (n.1096-19G=) c.1195-19G= (n.1195-19G=) c.194-19G= | |
2 | g.188994215G>T | CA538441250 | COL3A1 | c.1096-19G>T (n.1096-19G>T) c.1195-19G>T (n.1195-19G>T) c.194-19G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994216T>C | CA1315398416 | COL3A1 | c.1096-18T>C (n.1096-18T>C) c.1195-18T>C (n.1195-18T>C) c.194-18T>C | dbSNP |
2 | g.188994216T= | CA1315398417 | COL3A1 | c.1096-18T= (n.1096-18T=) c.1195-18T= (n.1195-18T=) c.194-18T= | |
2 | g.188994217C>T | CA2662288865 | COL3A1 | c.1096-17C>T (n.1096-17C>T) c.1195-17C>T (n.1195-17C>T) c.194-17C>T | gnomAD v4 |
2 | g.188994218T>A | CA2662288866 | COL3A1 | c.1096-16T>A (n.1096-16T>A) c.1195-16T>A (n.1195-16T>A) c.194-16T>A | gnomAD v4 |
2 | g.188994219_188994220del | CA2753572107 | COL3A1 | c.1096-15_1096-14del (n.1096-15_1096-14del) c.1195-15_1195-14del (n.1195-15_1195-14del) c.194-15_194-14del | |
2 | g.188994219T>C | CA2662288867 | COL3A1 | c.1096-15T>C (n.1096-15T>C) c.1195-15T>C (n.1195-15T>C) c.194-15T>C | gnomAD v4 |
2 | g.188994221G>A | CA2739278529 | COL3A1 | c.1096-13G>A (n.1096-13G>A) c.1195-13G>A (n.1195-13G>A) c.194-13G>A | ClinVar |
2 | g.188994222G>T | CA2662288868 | COL3A1 | c.1096-12G>T (n.1096-12G>T) c.1195-12G>T (n.1195-12G>T) c.194-12G>T | gnomAD v4 |
2 | g.188994224T>C | CA2662288869 | COL3A1 | c.1096-10T>C (n.1096-10T>C) c.1195-10T>C (n.1195-10T>C) c.194-10T>C | gnomAD v4 |
2 | g.188994225T>C | CA073956 | COL3A1 | c.1096-9T>C (n.1096-9T>C) c.1195-9T>C (n.1195-9T>C) c.194-9T>C | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.188994225T= | CA1315398418 | COL3A1 | c.1096-9T= (n.1096-9T=) c.1195-9T= (n.1195-9T=) c.194-9T= | |
2 | g.188994228T>C | CA913187957 | COL3A1 | c.1096-6T>C (n.1096-6T>C) c.1195-6T>C (n.1195-6T>C) c.194-6T>C | ClinVar dbSNP |
2 | g.188994228T= | CA1315398419 | COL3A1 | c.1096-6T= (n.1096-6T=) c.1195-6T= (n.1195-6T=) c.194-6T= | |
2 | g.188994229C= | CA1315398420 | COL3A1 | c.1096-5C= (n.1096-5C=) c.1195-5C= (n.1195-5C=) c.194-5C= | |
2 | g.188994229C>T | CA073952 | COL3A1 | c.1096-5C>T (n.1096-5C>T) c.1195-5C>T (n.1195-5C>T) c.194-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994230T>C | CA2753572108 | COL3A1 | c.1096-4T>C (n.1096-4T>C) c.1195-4T>C (n.1195-4T>C) c.194-4T>C | |
2 | g.188994231T>G | CA913187958 | COL3A1 | c.1096-3T>G (n.1096-3T>G) c.1195-3T>G (n.1195-3T>G) c.194-3T>G | ClinVar dbSNP |
2 | g.188994231T= | CA1315398421 | COL3A1 | c.1096-3T= (n.1096-3T=) c.1195-3T= (n.1195-3T=) c.194-3T= | |
2 | g.188994232A>C | CA349851307 | COL3A1 | c.1096-2A>C (n.1096-2A>C) c.1195-2A>C (n.1195-2A>C) c.194-2A>C | |
2 | g.188994232A>G | CA349851309 | COL3A1 | c.1096-2A>G (n.1096-2A>G) c.1195-2A>G (n.1195-2A>G) c.194-2A>G | |
2 | g.188994232A>T | CA349851311 | COL3A1 | c.1096-2A>T (n.1096-2A>T) c.1195-2A>T (n.1195-2A>T) c.194-2A>T | |
2 | g.188994232_188994233delinsAG | CA1315398422 | COL3A1 | c.1096-2_1096-1delinsAG (n.1096-2_1096-1delinsAG) c.1195-2_1195-1delinsAG (n.1195-2_1195-1delinsAG) c.194-2_194-1delinsAG | |
2 | g.188994233G>A | CA349851312 | COL3A1 | c.1096-1G>A (n.1096-1G>A) c.1195-1G>A (n.1195-1G>A) c.194-1G>A | |
2 | g.188994233G>C | CA349851313 | COL3A1 | c.1096-1G>C (n.1096-1G>C) c.1195-1G>C (n.1195-1G>C) c.194-1G>C | |
2 | g.188994233G>T | CA349851315 | COL3A1 | c.1096-1G>T (n.1096-1G>T) c.1195-1G>T (n.1195-1G>T) c.194-1G>T | |
2 | g.188994235del | CA1315398423 | COL3A1 | c.1097del c.1196del c.195del | dbSNP |
2 | g.188994234G>A | CA349851318 | COL3A1 | c.1096G>A (p.Gly366Ser) c.1195G>A (p.Gly399Ser) c.194G>A | gnomAD v4 COSMIC |
2 | g.188994234G>C | CA349851320 | COL3A1 | c.1096G>C (p.Gly366Arg) c.1195G>C (p.Gly399Arg) c.194G>C | |
2 | g.188994234G>T | CA349851321 | COL3A1 | c.1096G>T (p.Gly366Cys) c.1195G>T (p.Gly399Cys) c.194G>T | |
2 | g.188994235G>A | CA349851323 | COL3A1 | c.1097G>A (p.Gly366Asp) c.1196G>A (p.Gly399Asp) c.195G>A | |
2 | g.188994235G>C | CA16610545 | COL3A1 | c.1097G>C (p.Gly366Ala) c.1196G>C (p.Gly399Ala) c.195G>C | ClinVar dbSNP |
2 | g.188994235G= | CA1315398424 | COL3A1 | c.1097G= (p.Gly366=) c.1196G= (p.Gly399=) c.195G= | |
2 | g.188994235G>T | CA349851324 | COL3A1 | c.1097G>T (p.Gly366Val) c.1196G>T (p.Gly399Val) c.195G>T | |
2 | g.188994236T>A | CA430309433 | COL3A1 | c.1098T>A (p.Gly366=) c.1197T>A (p.Gly399=) c.196T>A | ClinVar |
2 | g.188994236T>C | CA62595215 | COL3A1 | c.1098T>C (p.Gly366=) c.1197T>C (p.Gly399=) c.196T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994236T>G | CA430309434 | COL3A1 | c.1098T>G (p.Gly366=) c.1197T>G (p.Gly399=) c.196T>G | |
2 | g.188994236T= | CA1315398425 | COL3A1 | c.1098T= (p.Gly366=) c.1197T= (p.Gly399=) c.196T= | |
2 | g.188994237C>A | CA349851326 | COL3A1 | c.1099C>A (p.Pro367Thr) c.1198C>A (p.Pro400Thr) c.197C>A | gnomAD v4 |
2 | g.188994237C= | CA1315398426 | COL3A1 | c.1099C= (p.Pro367=) c.1198C= (p.Pro400=) c.197C= | |
2 | g.188994237C>G | CA349851328 | COL3A1 | c.1099C>G (p.Pro367Ala) c.1198C>G (p.Pro400Ala) c.197C>G | gnomAD v4 |
2 | g.188994237C>T | CA349851329 | COL3A1 | c.1099C>T (p.Pro367Ser) c.1198C>T (p.Pro400Ser) c.197C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994238C>A | CA349851331 | COL3A1 | c.1100C>A (p.Pro367His) c.1199C>A (p.Pro400His) c.198C>A | |
2 | g.188994238C>G | CA349851333 | COL3A1 | c.1100C>G (p.Pro367Arg) c.1199C>G (p.Pro400Arg) c.198C>G | |
2 | g.188994238C>T | CA349851335 | COL3A1 | c.1100C>T (p.Pro367Leu) c.1199C>T (p.Pro400Leu) c.198C>T | |
2 | g.188994239C>A | CA430309435 | COL3A1 | c.1101C>A (p.Pro367=) c.1200C>A (p.Pro400=) c.199C>A | |
2 | g.188994239C= | CA1315398427 | COL3A1 | c.1101C= (p.Pro367=) c.1200C= (p.Pro400=) c.199C= | |
2 | g.188994239C>G | CA430309436 | COL3A1 | c.1101C>G (p.Pro367=) c.1200C>G (p.Pro400=) c.199C>G | |
2 | g.188994239C>T | CA073986 | COL3A1 | c.1101C>T (p.Pro367=) c.1200C>T (p.Pro400=) c.199C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994240G>A | CA073990 | COL3A1 | c.1102G>A (p.Ala368Thr) c.1201G>A (p.Ala401Thr) c.200G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994240G>C | CA62595227 | COL3A1 | c.1102G>C (p.Ala368Pro) c.1201G>C (p.Ala401Pro) c.200G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994240G= | CA1315398428 | COL3A1 | c.1102G= (p.Ala368=) c.1201G= (p.Ala401=) c.200G= | |
2 | g.188994240G>T | CA349851339 | COL3A1 | c.1102G>T (p.Ala368Ser) c.1201G>T (p.Ala401Ser) c.200G>T | |
2 | g.188994241C>A | CA349851345 | COL3A1 | c.1103C>A (p.Ala368Asp) c.1202C>A (p.Ala401Asp) c.201C>A | |
2 | g.188994241C= | CA1315398429 | COL3A1 | c.1103C= (p.Ala368=) c.1202C= (p.Ala401=) c.201C= | |
2 | g.188994241C>G | CA349851343 | COL3A1 | c.1103C>G (p.Ala368Gly) c.1202C>G (p.Ala401Gly) c.201C>G | |
2 | g.188994241C>T | CA349851341 | COL3A1 | c.1103C>T (p.Ala368Val) c.1202C>T (p.Ala401Val) c.201C>T | dbSNP gnomAD v4 |
2 | g.188994242T>A | CA430309439 | COL3A1 | c.1104T>A (p.Ala368=) c.1203T>A (p.Ala401=) c.202T>A | |
2 | g.188994242T>C | CA430309437 | COL3A1 | c.1104T>C (p.Ala368=) c.1203T>C (p.Ala401=) c.202T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994242T>G | CA430309438 | COL3A1 | c.1104T>G (p.Ala368=) c.1203T>G (p.Ala401=) c.202T>G | |
2 | g.188994242T= | CA1315398430 | COL3A1 | c.1104T= (p.Ala368=) c.1203T= (p.Ala401=) c.202T= | |
2 | g.188994243G>A | CA16617389 | COL3A1 | c.1105G>A (p.Gly369Ser) c.1204G>A (p.Gly402Ser) c.203G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994243G>C | CA349851347 | COL3A1 | c.1105G>C (p.Gly369Arg) c.1204G>C (p.Gly402Arg) c.203G>C | |
2 | g.188994243G= | CA1315398431 | COL3A1 | c.1105G= (p.Gly369=) c.1204G= (p.Gly402=) c.203G= | |
2 | g.188994243G>T | CA349851348 | COL3A1 | c.1105G>T (p.Gly369Cys) c.1204G>T (p.Gly402Cys) c.203G>T | |
2 | g.188994244G>A | CA349851349 | COL3A1 | c.1106G>A (p.Gly369Asp) c.1205G>A (p.Gly402Asp) c.204G>A | |
2 | g.188994244G>C | CA349851350 | COL3A1 | c.1106G>C (p.Gly369Ala) c.1205G>C (p.Gly402Ala) c.204G>C | |
2 | g.188994244G>T | CA349851351 | COL3A1 | c.1106G>T (p.Gly369Val) c.1205G>T (p.Gly402Val) c.204G>T | |
2 | g.188994244_188994245delinsAA | CA004126 | COL3A1 | c.1106_1107delinsAA (p.Gly369Glu) c.1205_1206delinsAA (p.Gly402Glu) c.204_205delinsAA | ClinVar dbSNP |
2 | g.188994244_188994245delinsGC | CA1315398432 | COL3A1 | c.1106_1107delinsGC (p.Gly369=) c.1205_1206delinsGC (p.Gly402=) c.204_205delinsGC | |
2 | g.188994245C>A | CA430309440 | COL3A1 | c.1107C>A (p.Gly369=) c.1206C>A (p.Gly402=) c.205C>A | dbSNP |
2 | g.188994245C>G | CA430309441 | COL3A1 | c.1107C>G (p.Gly369=) c.1206C>G (p.Gly402=) c.205C>G | |
2 | g.188994245C>T | CA430309442 | COL3A1 | c.1107C>T (p.Gly369=) c.1206C>T (p.Gly402=) c.205C>T | |
2 | g.188994246A= | CA1315398433 | COL3A1 | c.1108A= (p.Ile370=) c.1207A= (p.Ile403=) c.206A= | |
2 | g.188994246A>C | CA349851352 | COL3A1 | c.1108A>C (p.Ile370Leu) c.1207A>C (p.Ile403Leu) c.206A>C | |
2 | g.188994246A>G | CA349851354 | COL3A1 | c.1108A>G (p.Ile370Val) c.1207A>G (p.Ile403Val) c.206A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994246A>T | CA349851353 | COL3A1 | c.1108A>T (p.Ile370Phe) c.1207A>T (p.Ile403Phe) c.206A>T | |
2 | g.188994247T>A | CA349851355 | COL3A1 | c.1109T>A (p.Ile370Asn) c.1208T>A (p.Ile403Asn) c.207T>A | |
2 | g.188994247T>C | CA349851356 | COL3A1 | c.1109T>C (p.Ile370Thr) c.1208T>C (p.Ile403Thr) c.207T>C | gnomAD v4 |
2 | g.188994247T>G | CA349851358 | COL3A1 | c.1109T>G (p.Ile370Ser) c.1208T>G (p.Ile403Ser) c.207T>G | |
2 | g.188994248T>A | CA430309443 | COL3A1 | c.1110T>A (p.Ile370=) c.1209T>A (p.Ile403=) c.208T>A | |
2 | g.188994248T>C | CA430309444 | COL3A1 | c.1110T>C (p.Ile370=) c.1209T>C (p.Ile403=) c.208T>C | |
2 | g.188994248T>G | CA349851359 | COL3A1 | c.1110T>G (p.Ile370Met) c.1209T>G (p.Ile403Met) c.208T>G | |
2 | g.188994249C>A | CA349851362 | COL3A1 | c.1111C>A (p.Pro371Thr) c.1210C>A (p.Pro404Thr) c.209C>A | |
2 | g.188994249C>G | CA349851360 | COL3A1 | c.1111C>G (p.Pro371Ala) c.1210C>G (p.Pro404Ala) c.209C>G | |
2 | g.188994249C>T | CA349851361 | COL3A1 | c.1111C>T (p.Pro371Ser) c.1210C>T (p.Pro404Ser) c.209C>T | gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994250C>A | CA349851363 | COL3A1 | c.1112C>A (p.Pro371His) c.1211C>A (p.Pro404His) c.210C>A | |
2 | g.188994250C>G | CA349851364 | COL3A1 | c.1112C>G (p.Pro371Arg) c.1211C>G (p.Pro404Arg) c.210C>G | |
2 | g.188994250C>T | CA349851365 | COL3A1 | c.1112C>T (p.Pro371Leu) c.1211C>T (p.Pro404Leu) c.210C>T | |
2 | g.188994251T>A | CA430309447 | COL3A1 | c.1113T>A (p.Pro371=) c.1212T>A (p.Pro404=) c.211T>A | |
2 | g.188994251T>C | CA430309446 | COL3A1 | c.1113T>C (p.Pro371=) c.1212T>C (p.Pro404=) c.211T>C | |
2 | g.188994251T>G | CA430309445 | COL3A1 | c.1113T>G (p.Pro371=) c.1212T>G (p.Pro404=) c.211T>G | |
2 | g.188994252G>A | CA349851366 | COL3A1 | c.1114G>A (p.Gly372Arg) c.1213G>A (p.Gly405Arg) c.212G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994252G>C | CA349851367 | COL3A1 | c.1114G>C (p.Gly372Arg) c.1213G>C (p.Gly405Arg) c.212G>C | |
2 | g.188994252G= | CA1315398434 | COL3A1 | c.1114G= (p.Gly372=) c.1213G= (p.Gly405=) c.212G= | |
2 | g.188994252G>T | CA349851368 | COL3A1 | c.1114G>T (p.Gly372Ter) c.1213G>T (p.Gly405Ter) c.212G>T | |
2 | g.188994253G>A | CA349851369 | COL3A1 | c.1115G>A (p.Gly372Glu) c.1214G>A (p.Gly405Glu) c.213G>A | COSMIC |
2 | g.188994253G>C | CA349851371 | COL3A1 | c.1115G>C (p.Gly372Ala) c.1214G>C (p.Gly405Ala) c.213G>C | gnomAD v4 |
2 | g.188994253G>T | CA349851372 | COL3A1 | c.1115G>T (p.Gly372Val) c.1214G>T (p.Gly405Val) c.213G>T | |
2 | g.188994254A>C | CA430309448 | COL3A1 | c.1116A>C (p.Gly372=) c.1215A>C (p.Gly405=) c.214A>C | |
2 | g.188994254A>G | CA430309449 | COL3A1 | c.1116A>G (p.Gly372=) c.1215A>G (p.Gly405=) c.214A>G | |
2 | g.188994254A>T | CA430309450 | COL3A1 | c.1116A>T (p.Gly372=) c.1215A>T (p.Gly405=) c.214A>T | |
2 | g.188994255G>A | CA349851373 | COL3A1 | c.1117G>A (p.Ala373Thr) c.1216G>A (p.Ala406Thr) c.215G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994255G>C | CA349851374 | COL3A1 | c.1117G>C (p.Ala373Pro) c.1216G>C (p.Ala406Pro) c.215G>C | ClinVar dbSNP |
2 | g.188994255G= | CA1315398435 | COL3A1 | c.1117G= (p.Ala373=) c.1216G= (p.Ala406=) c.215G= | |
2 | g.188994255G>T | CA349851376 | COL3A1 | c.1117G>T (p.Ala373Ser) c.1216G>T (p.Ala406Ser) c.215G>T | gnomAD v4 |
2 | g.188994256C>A | CA349851377 | COL3A1 | c.1118C>A (p.Ala373Asp) c.1217C>A (p.Ala406Asp) c.216C>A | |
2 | g.188994256C>G | CA349851379 | COL3A1 | c.1118C>G (p.Ala373Gly) c.1217C>G (p.Ala406Gly) c.216C>G | |
2 | g.188994256C>T | CA349851378 | COL3A1 | c.1118C>T (p.Ala373Val) c.1217C>T (p.Ala406Val) c.216C>T | |
2 | g.188994257del | CA2830782619 | COL3A1 | c.1119del (p.Pro374LeufsTer3) c.1218del (p.Pro407LeufsTer3) c.217del | |
2 | g.188994257T>A | CA430309451 | COL3A1 | c.1119T>A (p.Ala373=) c.1218T>A (p.Ala406=) c.217T>A | gnomAD v4 |
2 | g.188994257T>C | CA430309452 | COL3A1 | c.1119T>C (p.Ala373=) c.1218T>C (p.Ala406=) c.217T>C | |
2 | g.188994257T>G | CA430309453 | COL3A1 | c.1119T>G (p.Ala373=) c.1218T>G (p.Ala406=) c.217T>G | gnomAD v4 |
2 | g.188994258C>A | CA349851381 | COL3A1 | c.1120C>A (p.Pro374Thr) c.1219C>A (p.Pro407Thr) c.218C>A | |
2 | g.188994258C>G | CA349851382 | COL3A1 | c.1120C>G (p.Pro374Ala) c.1219C>G (p.Pro407Ala) c.218C>G | |
2 | g.188994258C>T | CA349851383 | COL3A1 | c.1120C>T (p.Pro374Ser) c.1219C>T (p.Pro407Ser) c.218C>T | COSMIC COSMIC |
2 | g.188994259C>A | CA349851384 | COL3A1 | c.1121C>A (p.Pro374His) c.1220C>A (p.Pro407His) c.219C>A | |
2 | g.188994259C>G | CA349851385 | COL3A1 | c.1121C>G (p.Pro374Arg) c.1220C>G (p.Pro407Arg) c.219C>G | |
2 | g.188994259C>T | CA349851386 | COL3A1 | c.1121C>T (p.Pro374Leu) c.1220C>T (p.Pro407Leu) c.219C>T | dbSNP |
2 | g.188994260T>A | CA430309454 | COL3A1 | c.1122T>A (p.Pro374=) c.1221T>A (p.Pro407=) c.220T>A | |
2 | g.188994260T>C | CA430309455 | COL3A1 | c.1122T>C (p.Pro374=) c.1221T>C (p.Pro407=) c.220T>C | gnomAD v4 |
2 | g.188994260T>G | CA430309456 | COL3A1 | c.1122T>G (p.Pro374=) c.1221T>G (p.Pro407=) c.220T>G | |
2 | g.188994261G>A | CA16617390 | COL3A1 | c.1123G>A (p.Gly375Arg) c.1222G>A (p.Gly408Arg) c.221G>A | ClinVar dbSNP |
2 | g.188994261G>C | CA349851388 | COL3A1 | c.1123G>C (p.Gly375Arg) c.1222G>C (p.Gly408Arg) c.221G>C | |
2 | g.188994261G= | CA1315398436 | COL3A1 | c.1123G= (p.Gly375=) c.1222G= (p.Gly408=) c.221G= | |
2 | g.188994261G>T | CA349851389 | COL3A1 | c.1123G>T (p.Gly375Ter) c.1222G>T (p.Gly408Ter) c.221G>T | |
2 | g.188994262G>A | CA004140 | COL3A1 | c.1124G>A (p.Gly375Glu) c.1223G>A (p.Gly408Glu) c.222G>A | ClinVar dbSNP |
2 | g.188994262G>C | CA349851391 | COL3A1 | c.1124G>C (p.Gly375Ala) c.1223G>C (p.Gly408Ala) c.222G>C | |
2 | g.188994262G= | CA1315398437 | COL3A1 | c.1124G= (p.Gly375=) c.1223G= (p.Gly408=) c.222G= | |
2 | g.188994262G>T | CA349851392 | COL3A1 | c.1124G>T (p.Gly375Val) c.1223G>T (p.Gly408Val) c.222G>T | ClinVar dbSNP |
2 | g.188994263A>C | CA430309457 | COL3A1 | c.1125A>C (p.Gly375=) c.1224A>C (p.Gly408=) c.223A>C | ClinVar dbSNP |
2 | g.188994263A>G | CA430309458 | COL3A1 | c.1125A>G (p.Gly375=) c.1224A>G (p.Gly408=) c.223A>G | |
2 | g.188994263A>T | CA430309459 | COL3A1 | c.1125A>T (p.Gly375=) c.1224A>T (p.Gly408=) c.223A>T | |
2 | g.188994264C>A | CA349851393 | COL3A1 | c.1126C>A (p.Leu376Met) c.1225C>A (p.Leu409Met) c.224C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994264C= | CA1315398438 | COL3A1 | c.1126C= (p.Leu376=) c.1225C= (p.Leu409=) c.224C= | |
2 | g.188994264C>G | CA62595242 | COL3A1 | c.1126C>G (p.Leu376Val) c.1225C>G (p.Leu409Val) c.224C>G | ClinVar dbSNP gnomAD v4 |
2 | g.188994264C>T | CA430309460 | COL3A1 | c.1126C>T (p.Leu376=) c.1225C>T (p.Leu409=) c.224C>T | gnomAD v4 |
2 | g.188994265T>A | CA349851395 | COL3A1 | c.1127T>A (p.Leu376Gln) c.1226T>A (p.Leu409Gln) c.225T>A | |
2 | g.188994265T>C | CA349851396 | COL3A1 | c.1127T>C (p.Leu376Pro) c.1226T>C (p.Leu409Pro) c.225T>C | |
2 | g.188994265T>G | CA349851397 | COL3A1 | c.1127T>G (p.Leu376Arg) c.1226T>G (p.Leu409Arg) c.225T>G | |
2 | g.188994266G>A | CA430309461 | COL3A1 | c.1128G>A (p.Leu376=) c.1227G>A (p.Leu409=) c.226G>A | |
2 | g.188994266G>C | CA430309462 | COL3A1 | c.1128G>C (p.Leu376=) c.1227G>C (p.Leu409=) c.226G>C | |
2 | g.188994266G= | CA1315398439 | COL3A1 | c.1128G= (p.Leu376=) c.1227G= (p.Leu409=) c.226G= | |
2 | g.188994266G>T | CA430309463 | COL3A1 | c.1128G>T (p.Leu376=) c.1227G>T (p.Leu409=) c.226G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994267A= | CA1315398440 | COL3A1 | c.1129A= (p.Met377=) c.1228A= (p.Met410=) c.227A= | |
2 | g.188994267A>C | CA349851398 | COL3A1 | c.1129A>C (p.Met377Leu) c.1228A>C (p.Met410Leu) c.227A>C | |
2 | g.188994267A>G | CA074000 | COL3A1 | c.1129A>G (p.Met377Val) c.1228A>G (p.Met410Val) c.227A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994267A>T | CA349851399 | COL3A1 | c.1129A>T (p.Met377Leu) c.1228A>T (p.Met410Leu) c.227A>T | |
2 | g.188994268T>A | CA349851400 | COL3A1 | c.1130T>A (p.Met377Lys) c.1229T>A (p.Met410Lys) c.228T>A | |
2 | g.188994268T>C | CA349851401 | COL3A1 | c.1130T>C (p.Met377Thr) c.1229T>C (p.Met410Thr) c.228T>C | ClinVar dbSNP COSMIC COSMIC |
2 | g.188994268T>G | CA349851403 | COL3A1 | c.1130T>G (p.Met377Arg) c.1229T>G (p.Met410Arg) c.228T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994268T= | CA1315398441 | COL3A1 | c.1130T= (p.Met377=) c.1229T= (p.Met410=) c.228T= | |
2 | g.188994269G>A | CA349851404 | COL3A1 | c.1131G>A (p.Met377Ile) c.1230G>A (p.Met410Ile) c.229G>A | |
2 | g.188994269G>C | CA349851405 | COL3A1 | c.1131G>C (p.Met377Ile) c.1230G>C (p.Met410Ile) c.229G>C | |
2 | g.188994269G>T | CA349851406 | COL3A1 | c.1131G>T (p.Met377Ile) c.1230G>T (p.Met410Ile) c.229G>T | ClinVar dbSNP |
2 | g.188994271dup | CA2843118000 | COL3A1 | c.1133dup (p.Ala379SerfsTer11) c.1232dup (p.Ala412SerfsTer11) c.231dup | |
2 | g.188994270G>A | CA349851408 | COL3A1 | c.1132G>A (p.Gly378Arg) c.1231G>A (p.Gly411Arg) c.230G>A | |
2 | g.188994270G>C | CA004145 | COL3A1 | c.1132G>C (p.Gly378Arg) c.1231G>C (p.Gly411Arg) c.230G>C | ClinVar dbSNP |
2 | g.188994270G= | CA1315398442 | COL3A1 | c.1132G= (p.Gly378=) c.1231G= (p.Gly411=) c.230G= | |
2 | g.188994270G>T | CA349851407 | COL3A1 | c.1132G>T (p.Gly378Ter) c.1231G>T (p.Gly411Ter) c.230G>T | |
2 | g.188994271G>A | CA10587526 | COL3A1 | c.1133G>A (p.Gly378Glu) c.1232G>A (p.Gly411Glu) c.231G>A | ClinVar dbSNP |
2 | g.188994271G>C | CA349851411 | COL3A1 | c.1133G>C (p.Gly378Ala) c.1232G>C (p.Gly411Ala) c.231G>C | |
2 | g.188994271G= | CA1315398443 | COL3A1 | c.1133G= (p.Gly378=) c.1232G= (p.Gly411=) c.231G= | |
2 | g.188994271G>T | CA349851410 | COL3A1 | c.1133G>T (p.Gly378Val) c.1232G>T (p.Gly411Val) c.231G>T | gnomAD v4 |
2 | g.188994272A= | CA1315398444 | COL3A1 | c.1134A= (p.Gly378=) c.1233A= (p.Gly411=) c.232A= | |
2 | g.188994272A>C | CA430309465 | COL3A1 | c.1134A>C (p.Gly378=) c.1233A>C (p.Gly411=) c.232A>C | |
2 | g.188994272A>G | CA430309464 | COL3A1 | c.1134A>G (p.Gly378=) c.1233A>G (p.Gly411=) c.232A>G | dbSNP gnomAD v2 |
2 | g.188994272A>T | CA074005 | COL3A1 | c.1134A>T (p.Gly378=) c.1233A>T (p.Gly411=) c.232A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994273G>A | CA349851416 | COL3A1 | c.1135G>A (p.Ala379Thr) c.1234G>A (p.Ala412Thr) c.233G>A | ClinVar dbSNP gnomAD v4 |
2 | g.188994273G>C | CA349851413 | COL3A1 | c.1135G>C (p.Ala379Pro) c.1234G>C (p.Ala412Pro) c.233G>C | |
2 | g.188994273G= | CA1315398445 | COL3A1 | c.1135G= (p.Ala379=) c.1234G= (p.Ala412=) c.233G= | |
2 | g.188994273G>T | CA004150 | COL3A1 | c.1135G>T (p.Ala379Ser) c.1234G>T (p.Ala412Ser) c.233G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994274C>A | CA62595297 | COL3A1 | c.1136C>A (p.Ala379Asp) c.1235C>A (p.Ala412Asp) c.234C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994274C= | CA1315398446 | COL3A1 | c.1136C= (p.Ala379=) c.1235C= (p.Ala412=) c.234C= | |
2 | g.188994274C>G | CA349851417 | COL3A1 | c.1136C>G (p.Ala379Gly) c.1235C>G (p.Ala412Gly) c.234C>G | |
2 | g.188994274C>T | CA16043988 | COL3A1 | c.1136C>T (p.Ala379Val) c.1235C>T (p.Ala412Val) c.234C>T | ClinVar dbSNP gnomAD v4 |
2 | g.188994275C>A | CA430309466 | COL3A1 | c.1137C>A (p.Ala379=) c.1236C>A (p.Ala412=) c.235C>A | |
2 | g.188994275C>G | CA430309467 | COL3A1 | c.1137C>G (p.Ala379=) c.1236C>G (p.Ala412=) c.235C>G | |
2 | g.188994275C>T | CA430309468 | COL3A1 | c.1137C>T (p.Ala379=) c.1236C>T (p.Ala412=) c.235C>T | |
2 | g.188994276C>A | CA074015 | COL3A1 | c.1138C>A (p.Arg380=) c.1237C>A (p.Arg413=) c.236C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994276C= | CA1315398447 | COL3A1 | c.1138C= (p.Arg380=) c.1237C= (p.Arg413=) c.236C= | |
2 | g.188994276C>G | CA349851420 | COL3A1 | c.1138C>G (p.Arg380Gly) c.1237C>G (p.Arg413Gly) c.236C>G | |
2 | g.188994276C>T | CA349851421 | COL3A1 | c.1138C>T (p.Arg380Trp) c.1237C>T (p.Arg413Trp) c.236C>T | ClinVar gnomAD v4 |
2 | g.188994277G>A | CA074019 | COL3A1 | c.1139G>A (p.Arg380Gln) c.1238G>A (p.Arg413Gln) c.237G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994277G>C | CA349851424 | COL3A1 | c.1139G>C (p.Arg380Pro) c.1238G>C (p.Arg413Pro) c.237G>C | |
2 | g.188994277G= | CA1315398448 | COL3A1 | c.1139G= (p.Arg380=) c.1238G= (p.Arg413=) c.237G= | |
2 | g.188994277G>T | CA349851426 | COL3A1 | c.1139G>T (p.Arg380Leu) c.1238G>T (p.Arg413Leu) c.237G>T | |
2 | g.188994278G>A | CA430309470 | COL3A1 | c.1140G>A (p.Arg380=) c.1239G>A (p.Arg413=) c.238G>A | ClinVar dbSNP |
2 | g.188994278G>C | CA074023 | COL3A1 | c.1140G>C (p.Arg380=) c.1239G>C (p.Arg413=) c.238G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994278G= | CA1315398449 | COL3A1 | c.1140G= (p.Arg380=) c.1239G= (p.Arg413=) c.238G= | |
2 | g.188994278G>T | CA430309469 | COL3A1 | c.1140G>T (p.Arg380=) c.1239G>T (p.Arg413=) c.238G>T | |
2 | g.188994279G>A | CA349851430 | COL3A1 | c.1141G>A (p.Gly381Ser) c.1240G>A (p.Gly414Ser) c.239G>A | ClinVar |
2 | g.188994279G>C | CA349851428 | COL3A1 | c.1141G>C (p.Gly381Arg) c.1240G>C (p.Gly414Arg) c.239G>C | |
2 | g.188994279G= | CA1315398450 | COL3A1 | c.1141G= (p.Gly381=) c.1240G= (p.Gly414=) c.239G= | |
2 | g.188994279G>T | CA004154 | COL3A1 | c.1141G>T (p.Gly381Cys) c.1240G>T (p.Gly414Cys) c.239G>T | ClinVar dbSNP |
2 | g.188994280G>A | CA10587529 | COL3A1 | c.1142G>A (p.Gly381Asp) c.1241G>A (p.Gly414Asp) c.240G>A | ClinVar dbSNP |
2 | g.188994280G>C | CA349851431 | COL3A1 | c.1142G>C (p.Gly381Ala) c.1241G>C (p.Gly414Ala) c.240G>C | |
2 | g.188994280G= | CA1315398451 | COL3A1 | c.1142G= (p.Gly381=) c.1241G= (p.Gly414=) c.240G= | |
2 | g.188994280G>T | CA004160 | COL3A1 | c.1142G>T (p.Gly381Val) c.1241G>T (p.Gly414Val) c.240G>T | ClinVar dbSNP |
2 | g.188994281T>A | CA430309471 | COL3A1 | c.1143T>A (p.Gly381=) c.1242T>A (p.Gly414=) c.241T>A | |
2 | g.188994281T>C | CA430309472 | COL3A1 | c.1143T>C (p.Gly381=) c.1242T>C (p.Gly414=) c.241T>C | |
2 | g.188994281T>G | CA430309473 | COL3A1 | c.1143T>G (p.Gly381=) c.1242T>G (p.Gly414=) c.241T>G | |
2 | g.188994282C>A | CA349851433 | COL3A1 | c.1144C>A (p.Pro382Thr) c.1243C>A (p.Pro415Thr) c.242C>A | |
2 | g.188994282C>G | CA349851435 | COL3A1 | c.1144C>G (p.Pro382Ala) c.1243C>G (p.Pro415Ala) c.242C>G | |
2 | g.188994282C>T | CA349851436 | COL3A1 | c.1144C>T (p.Pro382Ser) c.1243C>T (p.Pro415Ser) c.242C>T | dbSNP |
2 | g.188994283C>A | CA349851437 | COL3A1 | c.1145C>A (p.Pro382His) c.1244C>A (p.Pro415His) c.243C>A | ClinVar dbSNP |
2 | g.188994283C= | CA1315398452 | COL3A1 | c.1145C= (p.Pro382=) c.1244C= (p.Pro415=) c.243C= | |
2 | g.188994283C>G | CA349851438 | COL3A1 | c.1145C>G (p.Pro382Arg) c.1244C>G (p.Pro415Arg) c.243C>G | |
2 | g.188994283C>T | CA349851439 | COL3A1 | c.1145C>T (p.Pro382Leu) c.1244C>T (p.Pro415Leu) c.243C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994284T>A | CA430309474 | COL3A1 | c.1146T>A (p.Pro382=) c.1245T>A (p.Pro415=) c.244T>A | |
2 | g.188994284T>C | CA074032 | COL3A1 | c.1146T>C (p.Pro382=) c.1245T>C (p.Pro415=) c.244T>C | dbSNP ExAC |
2 | g.188994284T>G | CA430309475 | COL3A1 | c.1146T>G (p.Pro382=) c.1245T>G (p.Pro415=) c.244T>G | |
2 | g.188994284T= | CA1315398453 | COL3A1 | c.1146T= (p.Pro382=) c.1245T= (p.Pro415=) c.244T= | |
2 | g.188994285C>A | CA349851445 | COL3A1 | c.1147C>A (p.Pro383Thr) c.1246C>A (p.Pro416Thr) c.245C>A | gnomAD v4 |
2 | g.188994285C>G | CA349851443 | COL3A1 | c.1147C>G (p.Pro383Ala) c.1246C>G (p.Pro416Ala) c.245C>G | |
2 | g.188994285C>T | CA349851442 | COL3A1 | c.1147C>T (p.Pro383Ser) c.1246C>T (p.Pro416Ser) c.245C>T | COSMIC COSMIC |
2 | g.188994286C>A | CA074037 | COL3A1 | c.1148C>A (p.Pro383Gln) c.1247C>A (p.Pro416Gln) c.246C>A | dbSNP ExAC |
2 | g.188994286C= | CA1315398454 | COL3A1 | c.1148C= (p.Pro383=) c.1247C= (p.Pro416=) c.246C= | |
2 | g.188994286C>G | CA349851448 | COL3A1 | c.1148C>G (p.Pro383Arg) c.1247C>G (p.Pro416Arg) c.246C>G | |
2 | g.188994286C>T | CA349851450 | COL3A1 | c.1148C>T (p.Pro383Leu) c.1247C>T (p.Pro416Leu) c.246C>T | |
2 | g.188994287A= | CA1315398455 | COL3A1 | c.1149A= (p.Pro383=) c.1248A= (p.Pro416=) c.247A= | |
2 | g.188994287A>C | CA430309476 | COL3A1 | c.1149A>C (p.Pro383=) c.1248A>C (p.Pro416=) c.247A>C | |
2 | g.188994287A>G | CA074042 | COL3A1 | c.1149A>G (p.Pro383=) c.1248A>G (p.Pro416=) c.247A>G | dbSNP ExAC gnomAD v4 |
2 | g.188994287A>T | CA430309477 | COL3A1 | c.1149A>T (p.Pro383=) c.1248A>T (p.Pro416=) c.247A>T | |
2 | g.188994288G>A | CA004166 | COL3A1 | c.1150G>A (p.Gly384Arg) c.1249G>A (p.Gly417Arg) c.248G>A | ClinVar dbSNP |
2 | g.188994288G>C | CA349851452 | COL3A1 | c.1150G>C (p.Gly384Arg) c.1249G>C (p.Gly417Arg) c.248G>C | ClinVar dbSNP |
2 | g.188994288G= | CA1315398456 | COL3A1 | c.1150G= (p.Gly384=) c.1249G= (p.Gly417=) c.248G= | |
2 | g.188994288G>T | CA349851454 | COL3A1 | c.1150G>T (p.Gly384Ter) c.1249G>T (p.Gly417Ter) c.248G>T | |
2 | g.188994289G>A | CA349851455 | COL3A1 | c.1151G>A (p.Gly384Glu) c.1250G>A (p.Gly417Glu) c.249G>A | |
2 | g.188994289G>C | CA074045 | COL3A1 | c.1151G>C (p.Gly384Ala) c.1250G>C (p.Gly417Ala) c.249G>C | dbSNP ExAC |
2 | g.188994289G= | CA1315398457 | COL3A1 | c.1151G= (p.Gly384=) c.1250G= (p.Gly417=) c.249G= | |
2 | g.188994289G>T | CA349851457 | COL3A1 | c.1151G>T (p.Gly384Val) c.1250G>T (p.Gly417Val) c.249G>T | gnomAD v4 |
2 | g.188994290A= | CA1315398458 | COL3A1 | c.1152A= (p.Gly384=) c.1251A= (p.Gly417=) c.250A= | |
2 | g.188994290A>C | CA074048 | COL3A1 | c.1152A>C (p.Gly384=) c.1251A>C (p.Gly417=) c.250A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994290A>G | CA430309478 | COL3A1 | c.1152A>G (p.Gly384=) c.1251A>G (p.Gly417=) c.250A>G | |
2 | g.188994290A>T | CA430309479 | COL3A1 | c.1152A>T (p.Gly384=) c.1251A>T (p.Gly417=) c.250A>T | |
2 | g.188994291C>A | CA349851463 | COL3A1 | c.1153C>A (p.Pro385Thr) c.1252C>A (p.Pro418Thr) c.251C>A | |
2 | g.188994291C>G | CA349851461 | COL3A1 | c.1153C>G (p.Pro385Ala) c.1252C>G (p.Pro418Ala) c.251C>G | |
2 | g.188994291C>T | CA349851459 | COL3A1 | c.1153C>T (p.Pro385Ser) c.1252C>T (p.Pro418Ser) c.251C>T | |
2 | g.188994292C>A | CA349851465 | COL3A1 | c.1154C>A (p.Pro385Gln) c.1253C>A (p.Pro418Gln) c.252C>A | dbSNP |
2 | g.188994292C= | CA1315398459 | COL3A1 | c.1154C= (p.Pro385=) c.1253C= (p.Pro418=) c.252C= | |
2 | g.188994292C>G | CA349851467 | COL3A1 | c.1154C>G (p.Pro385Arg) c.1253C>G (p.Pro418Arg) c.252C>G | |
2 | g.188994292C>T | CA349851468 | COL3A1 | c.1154C>T (p.Pro385Leu) c.1253C>T (p.Pro418Leu) c.252C>T | gnomAD v4 |
2 | g.188994293A>C | CA430309482 | COL3A1 | c.1155A>C (p.Pro385=) c.1254A>C (p.Pro418=) c.253A>C | |
2 | g.188994293A>G | CA430309480 | COL3A1 | c.1155A>G (p.Pro385=) c.1254A>G (p.Pro418=) c.253A>G | ClinVar dbSNP |
2 | g.188994293A>T | CA430309481 | COL3A1 | c.1155A>T (p.Pro385=) c.1254A>T (p.Pro418=) c.253A>T | |
2 | g.188994294G>A | CA349851469 | COL3A1 | c.1156G>A (p.Ala386Thr) c.1255G>A (p.Ala419Thr) c.254G>A | |
2 | g.188994294G>C | CA349851470 | COL3A1 | c.1156G>C (p.Ala386Pro) c.1255G>C (p.Ala419Pro) c.254G>C | |
2 | g.188994294G>T | CA349851472 | COL3A1 | c.1156G>T (p.Ala386Ser) c.1255G>T (p.Ala419Ser) c.254G>T | |
2 | g.188994295C>A | CA349851474 | COL3A1 | c.1157C>A (p.Ala386Asp) c.1256C>A (p.Ala419Asp) c.255C>A | |
2 | g.188994295C>G | CA349851480 | COL3A1 | c.1157C>G (p.Ala386Gly) c.1256C>G (p.Ala419Gly) c.255C>G | |
2 | g.188994295C>T | CA349851481 | COL3A1 | c.1157C>T (p.Ala386Val) c.1256C>T (p.Ala419Val) c.255C>T | COSMIC |
2 | g.188994296C>A | CA430309483 | COL3A1 | c.1158C>A (p.Ala386=) c.1257C>A (p.Ala419=) c.256C>A | |
2 | g.188994296C= | CA1315398460 | COL3A1 | c.1158C= (p.Ala386=) c.1257C= (p.Ala419=) c.256C= | |
2 | g.188994296C>G | CA430309484 | COL3A1 | c.1158C>G (p.Ala386=) c.1257C>G (p.Ala419=) c.256C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994296C>T | CA004174 | COL3A1 | c.1158C>T (p.Ala386=) c.1257C>T (p.Ala419=) c.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994297G>A | CA004179 | COL3A1 | c.1159G>A (p.Gly387Ser) c.1258G>A (p.Gly420Ser) c.257G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188994297G>C | CA349851484 | COL3A1 | c.1159G>C (p.Gly387Arg) c.1258G>C (p.Gly420Arg) c.257G>C | dbSNP |
2 | g.188994297G= | CA1315398461 | COL3A1 | c.1159G= (p.Gly387=) c.1258G= (p.Gly420=) c.257G= | |
2 | g.188994297G>T | CA349851486 | COL3A1 | c.1159G>T (p.Gly387Cys) c.1258G>T (p.Gly420Cys) c.257G>T | |
2 | g.188994298G>A | CA349851490 | COL3A1 | c.1160G>A (p.Gly387Asp) c.1259G>A (p.Gly420Asp) c.258G>A | |
2 | g.188994298G>C | CA349851492 | COL3A1 | c.1160G>C (p.Gly387Ala) c.1259G>C (p.Gly420Ala) c.258G>C | gnomAD v4 |
2 | g.188994298G>T | CA349851489 | COL3A1 | c.1160G>T (p.Gly387Val) c.1259G>T (p.Gly420Val) c.258G>T | |
2 | g.188994299T>A | CA430309486 | COL3A1 | c.1161T>A (p.Gly387=) c.1260T>A (p.Gly420=) c.259T>A | |
2 | g.188994299T>C | CA430309485 | COL3A1 | c.1161T>C (p.Gly387=) c.1260T>C (p.Gly420=) c.259T>C | |
2 | g.188994299T>G | CA430309487 | COL3A1 | c.1161T>G (p.Gly387=) c.1260T>G (p.Gly420=) c.259T>G |