Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237334684A= | CA1337606406 | COL6A3 | c.1611-1136T= c.8553T= (p.Ala2851=) c.1298T= c.39T= (p.Ala13=) c.9171T= (p.Ala3057=) c.7347T= (p.Ala2449=) c.7350T= (p.Ala2450=) n.5613T= n.103T= c.8571T= (p.Ala2857=) c.7950T= (p.Ala2650=) c.8670T= (p.Ala2890=) c.9168T= (p.Ala3056=) c.6765T= (p.Ala2255=) | |
2 | g.237334684A>C | CA431698608 | COL6A3 | c.1611-1136T>G c.8553T>G (p.Ala2851=) c.1298T>G c.39T>G (p.Ala13=) c.9171T>G (p.Ala3057=) c.7347T>G (p.Ala2449=) c.7350T>G (p.Ala2450=) n.5613T>G n.103T>G c.8571T>G (p.Ala2857=) c.7950T>G (p.Ala2650=) c.8670T>G (p.Ala2890=) c.9168T>G (p.Ala3056=) c.6765T>G (p.Ala2255=) | |
2 | g.237334684A>G | CA2187341 | COL6A3 | c.1611-1136T>C c.8553T>C (p.Ala2851=) c.1298T>C c.39T>C (p.Ala13=) c.9171T>C (p.Ala3057=) c.7347T>C (p.Ala2449=) c.7350T>C (p.Ala2450=) n.5613T>C n.103T>C c.8571T>C (p.Ala2857=) c.7950T>C (p.Ala2650=) c.8670T>C (p.Ala2890=) c.9168T>C (p.Ala3056=) c.6765T>C (p.Ala2255=) | dbSNP ExAC |
2 | g.237334684A>T | CA431698612 | COL6A3 | c.1611-1136T>A c.8553T>A (p.Ala2851=) c.1298T>A c.39T>A (p.Ala13=) c.9171T>A (p.Ala3057=) c.7347T>A (p.Ala2449=) c.7350T>A (p.Ala2450=) n.5613T>A n.103T>A c.8571T>A (p.Ala2857=) c.7950T>A (p.Ala2650=) c.8670T>A (p.Ala2890=) c.9168T>A (p.Ala3056=) c.6765T>A (p.Ala2255=) | |
2 | g.237334685G>A | CA351188202 | COL6A3 | c.1611-1137C>T c.8552C>T (p.Ala2851Val) c.1297C>T c.38C>T (p.Ala13Val) c.9170C>T (p.Ala3057Val) c.7346C>T (p.Ala2449Val) c.7349C>T (p.Ala2450Val) n.5612C>T n.102C>T c.8570C>T (p.Ala2857Val) c.7949C>T (p.Ala2650Val) c.8669C>T (p.Ala2890Val) c.9167C>T (p.Ala3056Val) c.6764C>T (p.Ala2255Val) | COSMIC |
2 | g.237334685G>C | CA351188207 | COL6A3 | c.1611-1137C>G c.8552C>G (p.Ala2851Gly) c.1297C>G c.38C>G (p.Ala13Gly) c.9170C>G (p.Ala3057Gly) c.7346C>G (p.Ala2449Gly) c.7349C>G (p.Ala2450Gly) n.5612C>G n.102C>G c.8570C>G (p.Ala2857Gly) c.7949C>G (p.Ala2650Gly) c.8669C>G (p.Ala2890Gly) c.9167C>G (p.Ala3056Gly) c.6764C>G (p.Ala2255Gly) | |
2 | g.237334685G>T | CA351188210 | COL6A3 | c.1611-1137C>A c.8552C>A (p.Ala2851Asp) c.1297C>A c.38C>A (p.Ala13Asp) c.9170C>A (p.Ala3057Asp) c.7346C>A (p.Ala2449Asp) c.7349C>A (p.Ala2450Asp) n.5612C>A n.102C>A c.8570C>A (p.Ala2857Asp) c.7949C>A (p.Ala2650Asp) c.8669C>A (p.Ala2890Asp) c.9167C>A (p.Ala3056Asp) c.6764C>A (p.Ala2255Asp) | |
2 | g.237334686C>A | CA351188211 | COL6A3 | c.1611-1138G>T c.8551G>T (p.Ala2851Ser) c.1296G>T c.37G>T (p.Ala13Ser) c.9169G>T (p.Ala3057Ser) c.7345G>T (p.Ala2449Ser) c.7348G>T (p.Ala2450Ser) n.5611G>T n.101G>T c.8569G>T (p.Ala2857Ser) c.7948G>T (p.Ala2650Ser) c.8668G>T (p.Ala2890Ser) c.9166G>T (p.Ala3056Ser) c.6763G>T (p.Ala2255Ser) | |
2 | g.237334686C= | CA1337606407 | COL6A3 | c.1611-1138G= c.8551G= (p.Ala2851=) c.1296G= c.37G= (p.Ala13=) c.9169G= (p.Ala3057=) c.7345G= (p.Ala2449=) c.7348G= (p.Ala2450=) n.5611G= n.101G= c.8569G= (p.Ala2857=) c.7948G= (p.Ala2650=) c.8668G= (p.Ala2890=) c.9166G= (p.Ala3056=) c.6763G= (p.Ala2255=) | |
2 | g.237334686C>G | CA351188214 | COL6A3 | c.1611-1138G>C c.8551G>C (p.Ala2851Pro) c.1296G>C c.37G>C (p.Ala13Pro) c.9169G>C (p.Ala3057Pro) c.7345G>C (p.Ala2449Pro) c.7348G>C (p.Ala2450Pro) n.5611G>C n.101G>C c.8569G>C (p.Ala2857Pro) c.7948G>C (p.Ala2650Pro) c.8668G>C (p.Ala2890Pro) c.9166G>C (p.Ala3056Pro) c.6763G>C (p.Ala2255Pro) | gnomAD v4 |
2 | g.237334686C>T | CA2187342 | COL6A3 | c.1611-1138G>A c.8551G>A (p.Ala2851Thr) c.1296G>A c.37G>A (p.Ala13Thr) c.9169G>A (p.Ala3057Thr) c.7345G>A (p.Ala2449Thr) c.7348G>A (p.Ala2450Thr) n.5611G>A n.101G>A c.8569G>A (p.Ala2857Thr) c.7948G>A (p.Ala2650Thr) c.8668G>A (p.Ala2890Thr) c.9166G>A (p.Ala3056Thr) c.6763G>A (p.Ala2255Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334687C>A | CA431698622 | COL6A3 | c.1611-1139G>T c.8550G>T (p.Val2850=) c.1295G>T c.36G>T (p.Val12=) c.9168G>T (p.Val3056=) c.7344G>T (p.Val2448=) c.7347G>T (p.Val2449=) n.5610G>T n.100G>T c.8568G>T (p.Val2856=) c.7947G>T (p.Val2649=) c.8667G>T (p.Val2889=) c.9165G>T (p.Val3055=) c.6762G>T (p.Val2254=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334687C= | CA1337606408 | COL6A3 | c.1611-1139G= c.8550G= (p.Val2850=) c.1295G= c.36G= (p.Val12=) c.9168G= (p.Val3056=) c.7344G= (p.Val2448=) c.7347G= (p.Val2449=) n.5610G= n.100G= c.8568G= (p.Val2856=) c.7947G= (p.Val2649=) c.8667G= (p.Val2889=) c.9165G= (p.Val3055=) c.6762G= (p.Val2254=) | |
2 | g.237334687C>G | CA431698620 | COL6A3 | c.1611-1139G>C c.8550G>C (p.Val2850=) c.1295G>C c.36G>C (p.Val12=) c.9168G>C (p.Val3056=) c.7344G>C (p.Val2448=) c.7347G>C (p.Val2449=) n.5610G>C n.100G>C c.8568G>C (p.Val2856=) c.7947G>C (p.Val2649=) c.8667G>C (p.Val2889=) c.9165G>C (p.Val3055=) c.6762G>C (p.Val2254=) | |
2 | g.237334687C>T | CA431698621 | COL6A3 | c.1611-1139G>A c.8550G>A (p.Val2850=) c.1295G>A c.36G>A (p.Val12=) c.9168G>A (p.Val3056=) c.7344G>A (p.Val2448=) c.7347G>A (p.Val2449=) n.5610G>A n.100G>A c.8568G>A (p.Val2856=) c.7947G>A (p.Val2649=) c.8667G>A (p.Val2889=) c.9165G>A (p.Val3055=) c.6762G>A (p.Val2254=) | |
2 | g.237334688A>C | CA351188225 | COL6A3 | c.1611-1140T>G c.8549T>G (p.Val2850Gly) c.1294T>G c.35T>G (p.Val12Gly) c.9167T>G (p.Val3056Gly) c.7343T>G (p.Val2448Gly) c.7346T>G (p.Val2449Gly) n.5609T>G n.99T>G c.8567T>G (p.Val2856Gly) c.7946T>G (p.Val2649Gly) c.8666T>G (p.Val2889Gly) c.9164T>G (p.Val3055Gly) c.6761T>G (p.Val2254Gly) | |
2 | g.237334688A>G | CA351188222 | COL6A3 | c.1611-1140T>C c.8549T>C (p.Val2850Ala) c.1294T>C c.35T>C (p.Val12Ala) c.9167T>C (p.Val3056Ala) c.7343T>C (p.Val2448Ala) c.7346T>C (p.Val2449Ala) n.5609T>C n.99T>C c.8567T>C (p.Val2856Ala) c.7946T>C (p.Val2649Ala) c.8666T>C (p.Val2889Ala) c.9164T>C (p.Val3055Ala) c.6761T>C (p.Val2254Ala) | |
2 | g.237334688A>T | CA351188224 | COL6A3 | c.1611-1140T>A c.8549T>A (p.Val2850Glu) c.1294T>A c.35T>A (p.Val12Glu) c.9167T>A (p.Val3056Glu) c.7343T>A (p.Val2448Glu) c.7346T>A (p.Val2449Glu) n.5609T>A n.99T>A c.8567T>A (p.Val2856Glu) c.7946T>A (p.Val2649Glu) c.8666T>A (p.Val2889Glu) c.9164T>A (p.Val3055Glu) c.6761T>A (p.Val2254Glu) | |
2 | g.237334689C>A | CA351188229 | COL6A3 | c.1611-1141G>T c.8548G>T (p.Val2850Leu) c.1293G>T c.34G>T (p.Val12Leu) c.9166G>T (p.Val3056Leu) c.7342G>T (p.Val2448Leu) c.7345G>T (p.Val2449Leu) n.5608G>T n.98G>T c.8566G>T (p.Val2856Leu) c.7945G>T (p.Val2649Leu) c.8665G>T (p.Val2889Leu) c.9163G>T (p.Val3055Leu) c.6760G>T (p.Val2254Leu) | |
2 | g.237334689C>G | CA351188230 | COL6A3 | c.1611-1141G>C c.8548G>C (p.Val2850Leu) c.1293G>C c.34G>C (p.Val12Leu) c.9166G>C (p.Val3056Leu) c.7342G>C (p.Val2448Leu) c.7345G>C (p.Val2449Leu) n.5608G>C n.98G>C c.8566G>C (p.Val2856Leu) c.7945G>C (p.Val2649Leu) c.8665G>C (p.Val2889Leu) c.9163G>C (p.Val3055Leu) c.6760G>C (p.Val2254Leu) | |
2 | g.237334689C>T | CA351188233 | COL6A3 | c.1611-1141G>A c.8548G>A (p.Val2850Met) c.1293G>A c.34G>A (p.Val12Met) c.9166G>A (p.Val3056Met) c.7342G>A (p.Val2448Met) c.7345G>A (p.Val2449Met) n.5608G>A n.98G>A c.8566G>A (p.Val2856Met) c.7945G>A (p.Val2649Met) c.8665G>A (p.Val2889Met) c.9163G>A (p.Val3055Met) c.6760G>A (p.Val2254Met) | |
2 | g.237334690A= | CA1337606409 | COL6A3 | c.1611-1142T= c.8547T= (p.His2849=) c.1292T= c.33T= (p.His11=) c.9165T= (p.His3055=) c.7341T= (p.His2447=) c.7344T= (p.His2448=) n.5607T= n.97T= c.8565T= (p.His2855=) c.7944T= (p.His2648=) c.8664T= (p.His2888=) c.9162T= (p.His3054=) c.6759T= (p.His2253=) | |
2 | g.237334690A>C | CA351188234 | COL6A3 | c.1611-1142T>G c.8547T>G (p.His2849Gln) c.1292T>G c.33T>G (p.His11Gln) c.9165T>G (p.His3055Gln) c.7341T>G (p.His2447Gln) c.7344T>G (p.His2448Gln) n.5607T>G n.97T>G c.8565T>G (p.His2855Gln) c.7944T>G (p.His2648Gln) c.8664T>G (p.His2888Gln) c.9162T>G (p.His3054Gln) c.6759T>G (p.His2253Gln) | |
2 | g.237334690A>G | CA2187343 | COL6A3 | c.1611-1142T>C c.8547T>C (p.His2849=) c.1292T>C c.33T>C (p.His11=) c.9165T>C (p.His3055=) c.7341T>C (p.His2447=) c.7344T>C (p.His2448=) n.5607T>C n.97T>C c.8565T>C (p.His2855=) c.7944T>C (p.His2648=) c.8664T>C (p.His2888=) c.9162T>C (p.His3054=) c.6759T>C (p.His2253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334690A>T | CA351188237 | COL6A3 | c.1611-1142T>A c.8547T>A (p.His2849Gln) c.1292T>A c.33T>A (p.His11Gln) c.9165T>A (p.His3055Gln) c.7341T>A (p.His2447Gln) c.7344T>A (p.His2448Gln) n.5607T>A n.97T>A c.8565T>A (p.His2855Gln) c.7944T>A (p.His2648Gln) c.8664T>A (p.His2888Gln) c.9162T>A (p.His3054Gln) c.6759T>A (p.His2253Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334691T>A | CA351188240 | COL6A3 | c.1611-1143A>T c.8546A>T (p.His2849Leu) c.1291A>T c.32A>T (p.His11Leu) c.9164A>T (p.His3055Leu) c.7340A>T (p.His2447Leu) c.7343A>T (p.His2448Leu) n.5606A>T n.96A>T c.8564A>T (p.His2855Leu) c.7943A>T (p.His2648Leu) c.8663A>T (p.His2888Leu) c.9161A>T (p.His3054Leu) c.6758A>T (p.His2253Leu) | |
2 | g.237334691T>C | CA351188244 | COL6A3 | c.1611-1143A>G c.8546A>G (p.His2849Arg) c.1291A>G c.32A>G (p.His11Arg) c.9164A>G (p.His3055Arg) c.7340A>G (p.His2447Arg) c.7343A>G (p.His2448Arg) n.5606A>G n.96A>G c.8564A>G (p.His2855Arg) c.7943A>G (p.His2648Arg) c.8663A>G (p.His2888Arg) c.9161A>G (p.His3054Arg) c.6758A>G (p.His2253Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334691T>G | CA351188241 | COL6A3 | c.1611-1143A>C c.8546A>C (p.His2849Pro) c.1291A>C c.32A>C (p.His11Pro) c.9164A>C (p.His3055Pro) c.7340A>C (p.His2447Pro) c.7343A>C (p.His2448Pro) n.5606A>C n.96A>C c.8564A>C (p.His2855Pro) c.7943A>C (p.His2648Pro) c.8663A>C (p.His2888Pro) c.9161A>C (p.His3054Pro) c.6758A>C (p.His2253Pro) | |
2 | g.237334691T= | CA1337606410 | COL6A3 | c.1611-1143A= c.8546A= (p.His2849=) c.1291A= c.32A= (p.His11=) c.9164A= (p.His3055=) c.7340A= (p.His2447=) c.7343A= (p.His2448=) n.5606A= n.96A= c.8564A= (p.His2855=) c.7943A= (p.His2648=) c.8663A= (p.His2888=) c.9161A= (p.His3054=) c.6758A= (p.His2253=) | |
2 | g.237334692G>A | CA351188247 | COL6A3 | c.1611-1144C>T c.8545C>T (p.His2849Tyr) c.1290C>T c.31C>T (p.His11Tyr) c.9163C>T (p.His3055Tyr) c.7339C>T (p.His2447Tyr) c.7342C>T (p.His2448Tyr) n.5605C>T n.95C>T c.8563C>T (p.His2855Tyr) c.7942C>T (p.His2648Tyr) c.8662C>T (p.His2888Tyr) c.9160C>T (p.His3054Tyr) c.6757C>T (p.His2253Tyr) | |
2 | g.237334692G>C | CA351188248 | COL6A3 | c.1611-1144C>G c.8545C>G (p.His2849Asp) c.1290C>G c.31C>G (p.His11Asp) c.9163C>G (p.His3055Asp) c.7339C>G (p.His2447Asp) c.7342C>G (p.His2448Asp) n.5605C>G n.95C>G c.8563C>G (p.His2855Asp) c.7942C>G (p.His2648Asp) c.8662C>G (p.His2888Asp) c.9160C>G (p.His3054Asp) c.6757C>G (p.His2253Asp) | gnomAD v4 |
2 | g.237334692G>T | CA351188250 | COL6A3 | c.1611-1144C>A c.8545C>A (p.His2849Asn) c.1290C>A c.31C>A (p.His11Asn) c.9163C>A (p.His3055Asn) c.7339C>A (p.His2447Asn) c.7342C>A (p.His2448Asn) n.5605C>A n.95C>A c.8563C>A (p.His2855Asn) c.7942C>A (p.His2648Asn) c.8662C>A (p.His2888Asn) c.9160C>A (p.His3054Asn) c.6757C>A (p.His2253Asn) | |
2 | g.237334692_237334695dup | CA2573135626 | COL6A3 | c.1611-1147_1611-1144dup c.8542_8545dup (p.His2849LeufsTer?) c.1287_1290dup c.28_31dup (p.His11LeufsTer?) c.9160_9163dup (p.His3055LeufsTer?) c.7336_7339dup (p.His2447LeufsTer?) c.7339_7342dup (p.His2448LeufsTer?) n.5602_5605dup n.92_95dup c.8560_8563dup (p.His2855LeufsTer?) c.7939_7942dup (p.His2648LeufsTer?) c.8659_8662dup (p.His2888LeufsTer?) c.9157_9160dup (p.His3054LeufsTer?) c.6754_6757dup (p.His2253LeufsTer?) | ClinVar dbSNP |
2 | g.237334693G>A | CA431698627 | COL6A3 | c.1611-1145C>T c.8544C>T (p.Tyr2848=) c.1289C>T c.30C>T (p.Tyr10=) c.9162C>T (p.Tyr3054=) c.7338C>T (p.Tyr2446=) c.7341C>T (p.Tyr2447=) n.5604C>T n.94C>T c.8562C>T (p.Tyr2854=) c.7941C>T (p.Tyr2647=) c.8661C>T (p.Tyr2887=) c.9159C>T (p.Tyr3053=) c.6756C>T (p.Tyr2252=) | |
2 | g.237334693G>C | CA351188253 | COL6A3 | c.1611-1145C>G c.8544C>G (p.Tyr2848Ter) c.1289C>G c.30C>G (p.Tyr10Ter) c.9162C>G (p.Tyr3054Ter) c.7338C>G (p.Tyr2446Ter) c.7341C>G (p.Tyr2447Ter) n.5604C>G n.94C>G c.8562C>G (p.Tyr2854Ter) c.7941C>G (p.Tyr2647Ter) c.8661C>G (p.Tyr2887Ter) c.9159C>G (p.Tyr3053Ter) c.6756C>G (p.Tyr2252Ter) | |
2 | g.237334693G>T | CA351188256 | COL6A3 | c.1611-1145C>A c.8544C>A (p.Tyr2848Ter) c.1289C>A c.30C>A (p.Tyr10Ter) c.9162C>A (p.Tyr3054Ter) c.7338C>A (p.Tyr2446Ter) c.7341C>A (p.Tyr2447Ter) n.5604C>A n.94C>A c.8562C>A (p.Tyr2854Ter) c.7941C>A (p.Tyr2647Ter) c.8661C>A (p.Tyr2887Ter) c.9159C>A (p.Tyr3053Ter) c.6756C>A (p.Tyr2252Ter) | |
2 | g.237334694T>A | CA351188259 | COL6A3 | c.1611-1146A>T c.8543A>T (p.Tyr2848Phe) c.1288A>T c.29A>T (p.Tyr10Phe) c.9161A>T (p.Tyr3054Phe) c.7337A>T (p.Tyr2446Phe) c.7340A>T (p.Tyr2447Phe) n.5603A>T n.93A>T c.8561A>T (p.Tyr2854Phe) c.7940A>T (p.Tyr2647Phe) c.8660A>T (p.Tyr2887Phe) c.9158A>T (p.Tyr3053Phe) c.6755A>T (p.Tyr2252Phe) | |
2 | g.237334694T>C | CA351188262 | COL6A3 | c.1611-1146A>G c.8543A>G (p.Tyr2848Cys) c.1288A>G c.29A>G (p.Tyr10Cys) c.9161A>G (p.Tyr3054Cys) c.7337A>G (p.Tyr2446Cys) c.7340A>G (p.Tyr2447Cys) n.5603A>G n.93A>G c.8561A>G (p.Tyr2854Cys) c.7940A>G (p.Tyr2647Cys) c.8660A>G (p.Tyr2887Cys) c.9158A>G (p.Tyr3053Cys) c.6755A>G (p.Tyr2252Cys) | |
2 | g.237334694T>G | CA351188264 | COL6A3 | c.1611-1146A>C c.8543A>C (p.Tyr2848Ser) c.1288A>C c.29A>C (p.Tyr10Ser) c.9161A>C (p.Tyr3054Ser) c.7337A>C (p.Tyr2446Ser) c.7340A>C (p.Tyr2447Ser) n.5603A>C n.93A>C c.8561A>C (p.Tyr2854Ser) c.7940A>C (p.Tyr2647Ser) c.8660A>C (p.Tyr2887Ser) c.9158A>C (p.Tyr3053Ser) c.6755A>C (p.Tyr2252Ser) | |
2 | g.237334695A= | CA1337606411 | COL6A3 | c.1611-1147T= c.8542T= (p.Tyr2848=) c.1287T= c.28T= (p.Tyr10=) c.9160T= (p.Tyr3054=) c.7336T= (p.Tyr2446=) c.7339T= (p.Tyr2447=) n.5602T= n.92T= c.8560T= (p.Tyr2854=) c.7939T= (p.Tyr2647=) c.8659T= (p.Tyr2887=) c.9157T= (p.Tyr3053=) c.6754T= (p.Tyr2252=) | |
2 | g.237334695A>C | CA351188267 | COL6A3 | c.1611-1147T>G c.8542T>G (p.Tyr2848Asp) c.1287T>G c.28T>G (p.Tyr10Asp) c.9160T>G (p.Tyr3054Asp) c.7336T>G (p.Tyr2446Asp) c.7339T>G (p.Tyr2447Asp) n.5602T>G n.92T>G c.8560T>G (p.Tyr2854Asp) c.7939T>G (p.Tyr2647Asp) c.8659T>G (p.Tyr2887Asp) c.9157T>G (p.Tyr3053Asp) c.6754T>G (p.Tyr2252Asp) | |
2 | g.237334695A>G | CA351188269 | COL6A3 | c.1611-1147T>C c.8542T>C (p.Tyr2848His) c.1287T>C c.28T>C (p.Tyr10His) c.9160T>C (p.Tyr3054His) c.7336T>C (p.Tyr2446His) c.7339T>C (p.Tyr2447His) n.5602T>C n.92T>C c.8560T>C (p.Tyr2854His) c.7939T>C (p.Tyr2647His) c.8659T>C (p.Tyr2887His) c.9157T>C (p.Tyr3053His) c.6754T>C (p.Tyr2252His) | dbSNP gnomAD v4 |
2 | g.237334695A>T | CA351188272 | COL6A3 | c.1611-1147T>A c.8542T>A (p.Tyr2848Asn) c.1287T>A c.28T>A (p.Tyr10Asn) c.9160T>A (p.Tyr3054Asn) c.7336T>A (p.Tyr2446Asn) c.7339T>A (p.Tyr2447Asn) n.5602T>A n.92T>A c.8560T>A (p.Tyr2854Asn) c.7939T>A (p.Tyr2647Asn) c.8659T>A (p.Tyr2887Asn) c.9157T>A (p.Tyr3053Asn) c.6754T>A (p.Tyr2252Asn) | |
2 | g.237334696T>A | CA2187344 | COL6A3 | c.1611-1148A>T c.8541A>T (p.Thr2847=) c.1286A>T c.27A>T (p.Thr9=) c.9159A>T (p.Thr3053=) c.7335A>T (p.Thr2445=) c.7338A>T (p.Thr2446=) n.5601A>T n.91A>T c.8559A>T (p.Thr2853=) c.7938A>T (p.Thr2646=) c.8658A>T (p.Thr2886=) c.9156A>T (p.Thr3052=) c.6753A>T (p.Thr2251=) | dbSNP ExAC |
2 | g.237334696T>C | CA431698647 | COL6A3 | c.1611-1148A>G c.8541A>G (p.Thr2847=) c.1286A>G c.27A>G (p.Thr9=) c.9159A>G (p.Thr3053=) c.7335A>G (p.Thr2445=) c.7338A>G (p.Thr2446=) n.5601A>G n.91A>G c.8559A>G (p.Thr2853=) c.7938A>G (p.Thr2646=) c.8658A>G (p.Thr2886=) c.9156A>G (p.Thr3052=) c.6753A>G (p.Thr2251=) | dbSNP |
2 | g.237334696T>G | CA431698645 | COL6A3 | c.1611-1148A>C c.8541A>C (p.Thr2847=) c.1286A>C c.27A>C (p.Thr9=) c.9159A>C (p.Thr3053=) c.7335A>C (p.Thr2445=) c.7338A>C (p.Thr2446=) n.5601A>C n.91A>C c.8559A>C (p.Thr2853=) c.7938A>C (p.Thr2646=) c.8658A>C (p.Thr2886=) c.9156A>C (p.Thr3052=) c.6753A>C (p.Thr2251=) | |
2 | g.237334696T= | CA1337606412 | COL6A3 | c.1611-1148A= c.8541A= (p.Thr2847=) c.1286A= c.27A= (p.Thr9=) c.9159A= (p.Thr3053=) c.7335A= (p.Thr2445=) c.7338A= (p.Thr2446=) n.5601A= n.91A= c.8559A= (p.Thr2853=) c.7938A= (p.Thr2646=) c.8658A= (p.Thr2886=) c.9156A= (p.Thr3052=) c.6753A= (p.Thr2251=) | |
2 | g.237334697G>A | CA351188278 | COL6A3 | c.1611-1149C>T c.8540C>T (p.Thr2847Ile) c.1285C>T c.26C>T (p.Thr9Ile) c.9158C>T (p.Thr3053Ile) c.7334C>T (p.Thr2445Ile) c.7337C>T (p.Thr2446Ile) n.5600C>T n.90C>T c.8558C>T (p.Thr2853Ile) c.7937C>T (p.Thr2646Ile) c.8657C>T (p.Thr2886Ile) c.9155C>T (p.Thr3052Ile) c.6752C>T (p.Thr2251Ile) | |
2 | g.237334697G>C | CA351188275 | COL6A3 | c.1611-1149C>G c.8540C>G (p.Thr2847Arg) c.1285C>G c.26C>G (p.Thr9Arg) c.9158C>G (p.Thr3053Arg) c.7334C>G (p.Thr2445Arg) c.7337C>G (p.Thr2446Arg) n.5600C>G n.90C>G c.8558C>G (p.Thr2853Arg) c.7937C>G (p.Thr2646Arg) c.8657C>G (p.Thr2886Arg) c.9155C>G (p.Thr3052Arg) c.6752C>G (p.Thr2251Arg) | |
2 | g.237334697G= | CA1337606413 | COL6A3 | c.1611-1149C= c.8540C= (p.Thr2847=) c.1285C= c.26C= (p.Thr9=) c.9158C= (p.Thr3053=) c.7334C= (p.Thr2445=) c.7337C= (p.Thr2446=) n.5600C= n.90C= c.8558C= (p.Thr2853=) c.7937C= (p.Thr2646=) c.8657C= (p.Thr2886=) c.9155C= (p.Thr3052=) c.6752C= (p.Thr2251=) | |
2 | g.237334697G>T | CA351188276 | COL6A3 | c.1611-1149C>A c.8540C>A (p.Thr2847Lys) c.1285C>A c.26C>A (p.Thr9Lys) c.9158C>A (p.Thr3053Lys) c.7334C>A (p.Thr2445Lys) c.7337C>A (p.Thr2446Lys) n.5600C>A n.90C>A c.8558C>A (p.Thr2853Lys) c.7937C>A (p.Thr2646Lys) c.8657C>A (p.Thr2886Lys) c.9155C>A (p.Thr3052Lys) c.6752C>A (p.Thr2251Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334698T>A | CA351188280 | COL6A3 | c.1611-1150A>T c.8539A>T (p.Thr2847Ser) c.1284A>T c.25A>T (p.Thr9Ser) c.9157A>T (p.Thr3053Ser) c.7333A>T (p.Thr2445Ser) c.7336A>T (p.Thr2446Ser) n.5599A>T n.89A>T c.8557A>T (p.Thr2853Ser) c.7936A>T (p.Thr2646Ser) c.8656A>T (p.Thr2886Ser) c.9154A>T (p.Thr3052Ser) c.6751A>T (p.Thr2251Ser) | |
2 | g.237334698T>C | CA351188282 | COL6A3 | c.1611-1150A>G c.8539A>G (p.Thr2847Ala) c.1284A>G c.25A>G (p.Thr9Ala) c.9157A>G (p.Thr3053Ala) c.7333A>G (p.Thr2445Ala) c.7336A>G (p.Thr2446Ala) n.5599A>G n.89A>G c.8557A>G (p.Thr2853Ala) c.7936A>G (p.Thr2646Ala) c.8656A>G (p.Thr2886Ala) c.9154A>G (p.Thr3052Ala) c.6751A>G (p.Thr2251Ala) | dbSNP |
2 | g.237334698T>G | CA351188284 | COL6A3 | c.1611-1150A>C c.8539A>C (p.Thr2847Pro) c.1284A>C c.25A>C (p.Thr9Pro) c.9157A>C (p.Thr3053Pro) c.7333A>C (p.Thr2445Pro) c.7336A>C (p.Thr2446Pro) n.5599A>C n.89A>C c.8557A>C (p.Thr2853Pro) c.7936A>C (p.Thr2646Pro) c.8656A>C (p.Thr2886Pro) c.9154A>C (p.Thr3052Pro) c.6751A>C (p.Thr2251Pro) | |
2 | g.237334698T= | CA1337606414 | COL6A3 | c.1611-1150A= c.8539A= (p.Thr2847=) c.1284A= c.25A= (p.Thr9=) c.9157A= (p.Thr3053=) c.7333A= (p.Thr2445=) c.7336A= (p.Thr2446=) n.5599A= n.89A= c.8557A= (p.Thr2853=) c.7936A= (p.Thr2646=) c.8656A= (p.Thr2886=) c.9154A= (p.Thr3052=) c.6751A= (p.Thr2251=) | |
2 | g.237334699C>A | CA351188285 | COL6A3 | c.1611-1151G>T c.8538G>T (p.Gln2846His) c.1283G>T c.24G>T (p.Gln8His) c.9156G>T (p.Gln3052His) c.7332G>T (p.Gln2444His) c.7335G>T (p.Gln2445His) n.5598G>T n.88G>T c.8556G>T (p.Gln2852His) c.7935G>T (p.Gln2645His) c.8655G>T (p.Gln2885His) c.9153G>T (p.Gln3051His) c.6750G>T (p.Gln2250His) | |
2 | g.237334699C= | CA1337606415 | COL6A3 | c.1611-1151G= c.8538G= (p.Gln2846=) c.1283G= c.24G= (p.Gln8=) c.9156G= (p.Gln3052=) c.7332G= (p.Gln2444=) c.7335G= (p.Gln2445=) n.5598G= n.88G= c.8556G= (p.Gln2852=) c.7935G= (p.Gln2645=) c.8655G= (p.Gln2885=) c.9153G= (p.Gln3051=) c.6750G= (p.Gln2250=) | |
2 | g.237334699C>G | CA2187345 | COL6A3 | c.1611-1151G>C c.8538G>C (p.Gln2846His) c.1283G>C c.24G>C (p.Gln8His) c.9156G>C (p.Gln3052His) c.7332G>C (p.Gln2444His) c.7335G>C (p.Gln2445His) n.5598G>C n.88G>C c.8556G>C (p.Gln2852His) c.7935G>C (p.Gln2645His) c.8655G>C (p.Gln2885His) c.9153G>C (p.Gln3051His) c.6750G>C (p.Gln2250His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334699C>T | CA431698664 | COL6A3 | c.1611-1151G>A c.8538G>A (p.Gln2846=) c.1283G>A c.24G>A (p.Gln8=) c.9156G>A (p.Gln3052=) c.7332G>A (p.Gln2444=) c.7335G>A (p.Gln2445=) n.5598G>A n.88G>A c.8556G>A (p.Gln2852=) c.7935G>A (p.Gln2645=) c.8655G>A (p.Gln2885=) c.9153G>A (p.Gln3051=) c.6750G>A (p.Gln2250=) | |
2 | g.237334700T>A | CA351188293 | COL6A3 | c.1611-1152A>T c.8537A>T (p.Gln2846Leu) c.1282A>T c.23A>T (p.Gln8Leu) c.9155A>T (p.Gln3052Leu) c.7331A>T (p.Gln2444Leu) c.7334A>T (p.Gln2445Leu) n.5597A>T n.87A>T c.8555A>T (p.Gln2852Leu) c.7934A>T (p.Gln2645Leu) c.8654A>T (p.Gln2885Leu) c.9152A>T (p.Gln3051Leu) c.6749A>T (p.Gln2250Leu) | |
2 | g.237334700T>C | CA351188290 | COL6A3 | c.1611-1152A>G c.8537A>G (p.Gln2846Arg) c.1282A>G c.23A>G (p.Gln8Arg) c.9155A>G (p.Gln3052Arg) c.7331A>G (p.Gln2444Arg) c.7334A>G (p.Gln2445Arg) n.5597A>G n.87A>G c.8555A>G (p.Gln2852Arg) c.7934A>G (p.Gln2645Arg) c.8654A>G (p.Gln2885Arg) c.9152A>G (p.Gln3051Arg) c.6749A>G (p.Gln2250Arg) | |
2 | g.237334700T>G | CA351188289 | COL6A3 | c.1611-1152A>C c.8537A>C (p.Gln2846Pro) c.1282A>C c.23A>C (p.Gln8Pro) c.9155A>C (p.Gln3052Pro) c.7331A>C (p.Gln2444Pro) c.7334A>C (p.Gln2445Pro) n.5597A>C n.87A>C c.8555A>C (p.Gln2852Pro) c.7934A>C (p.Gln2645Pro) c.8654A>C (p.Gln2885Pro) c.9152A>C (p.Gln3051Pro) c.6749A>C (p.Gln2250Pro) | |
2 | g.237334701G>A | CA351188295 | COL6A3 | c.1611-1153C>T c.8536C>T (p.Gln2846Ter) c.1281C>T c.22C>T (p.Gln8Ter) c.9154C>T (p.Gln3052Ter) c.7330C>T (p.Gln2444Ter) c.7333C>T (p.Gln2445Ter) n.5596C>T n.86C>T c.8554C>T (p.Gln2852Ter) c.7933C>T (p.Gln2645Ter) c.8653C>T (p.Gln2885Ter) c.9151C>T (p.Gln3051Ter) c.6748C>T (p.Gln2250Ter) | |
2 | g.237334701G>C | CA351188298 | COL6A3 | c.1611-1153C>G c.8536C>G (p.Gln2846Glu) c.1281C>G c.22C>G (p.Gln8Glu) c.9154C>G (p.Gln3052Glu) c.7330C>G (p.Gln2444Glu) c.7333C>G (p.Gln2445Glu) n.5596C>G n.86C>G c.8554C>G (p.Gln2852Glu) c.7933C>G (p.Gln2645Glu) c.8653C>G (p.Gln2885Glu) c.9151C>G (p.Gln3051Glu) c.6748C>G (p.Gln2250Glu) | |
2 | g.237334701G>T | CA351188301 | COL6A3 | c.1611-1153C>A c.8536C>A (p.Gln2846Lys) c.1281C>A c.22C>A (p.Gln8Lys) c.9154C>A (p.Gln3052Lys) c.7330C>A (p.Gln2444Lys) c.7333C>A (p.Gln2445Lys) n.5596C>A n.86C>A c.8554C>A (p.Gln2852Lys) c.7933C>A (p.Gln2645Lys) c.8653C>A (p.Gln2885Lys) c.9151C>A (p.Gln3051Lys) c.6748C>A (p.Gln2250Lys) | |
2 | g.237334702C>A | CA431698679 | COL6A3 | c.1611-1154G>T c.8535G>T (p.Gly2845=) c.1280G>T c.21G>T (p.Gly7=) c.9153G>T (p.Gly3051=) c.7329G>T (p.Gly2443=) c.7332G>T (p.Gly2444=) n.5595G>T n.85G>T c.8553G>T (p.Gly2851=) c.7932G>T (p.Gly2644=) c.8652G>T (p.Gly2884=) c.9150G>T (p.Gly3050=) c.6747G>T (p.Gly2249=) | |
2 | g.237334702C>G | CA431698680 | COL6A3 | c.1611-1154G>C c.8535G>C (p.Gly2845=) c.1280G>C c.21G>C (p.Gly7=) c.9153G>C (p.Gly3051=) c.7329G>C (p.Gly2443=) c.7332G>C (p.Gly2444=) n.5595G>C n.85G>C c.8553G>C (p.Gly2851=) c.7932G>C (p.Gly2644=) c.8652G>C (p.Gly2884=) c.9150G>C (p.Gly3050=) c.6747G>C (p.Gly2249=) | |
2 | g.237334702C>T | CA431698683 | COL6A3 | c.1611-1154G>A c.8535G>A (p.Gly2845=) c.1280G>A c.21G>A (p.Gly7=) c.9153G>A (p.Gly3051=) c.7329G>A (p.Gly2443=) c.7332G>A (p.Gly2444=) n.5595G>A n.85G>A c.8553G>A (p.Gly2851=) c.7932G>A (p.Gly2644=) c.8652G>A (p.Gly2884=) c.9150G>A (p.Gly3050=) c.6747G>A (p.Gly2249=) | |
2 | g.237334703C>A | CA351188303 | COL6A3 | c.1611-1155G>T c.8534G>T (p.Gly2845Val) c.1279G>T c.20G>T (p.Gly7Val) c.9152G>T (p.Gly3051Val) c.7328G>T (p.Gly2443Val) c.7331G>T (p.Gly2444Val) n.5594G>T n.84G>T c.8552G>T (p.Gly2851Val) c.7931G>T (p.Gly2644Val) c.8651G>T (p.Gly2884Val) c.9149G>T (p.Gly3050Val) c.6746G>T (p.Gly2249Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334703C= | CA1337606416 | COL6A3 | c.1611-1155G= c.8534G= (p.Gly2845=) c.1279G= c.20G= (p.Gly7=) c.9152G= (p.Gly3051=) c.7328G= (p.Gly2443=) c.7331G= (p.Gly2444=) n.5594G= n.84G= c.8552G= (p.Gly2851=) c.7931G= (p.Gly2644=) c.8651G= (p.Gly2884=) c.9149G= (p.Gly3050=) c.6746G= (p.Gly2249=) | |
2 | g.237334703C>G | CA351188305 | COL6A3 | c.1611-1155G>C c.8534G>C (p.Gly2845Ala) c.1279G>C c.20G>C (p.Gly7Ala) c.9152G>C (p.Gly3051Ala) c.7328G>C (p.Gly2443Ala) c.7331G>C (p.Gly2444Ala) n.5594G>C n.84G>C c.8552G>C (p.Gly2851Ala) c.7931G>C (p.Gly2644Ala) c.8651G>C (p.Gly2884Ala) c.9149G>C (p.Gly3050Ala) c.6746G>C (p.Gly2249Ala) | ClinVar |
2 | g.237334703C>T | CA351188307 | COL6A3 | c.1611-1155G>A c.8534G>A (p.Gly2845Glu) c.1279G>A c.20G>A (p.Gly7Glu) c.9152G>A (p.Gly3051Glu) c.7328G>A (p.Gly2443Glu) c.7331G>A (p.Gly2444Glu) n.5594G>A n.84G>A c.8552G>A (p.Gly2851Glu) c.7931G>A (p.Gly2644Glu) c.8651G>A (p.Gly2884Glu) c.9149G>A (p.Gly3050Glu) c.6746G>A (p.Gly2249Glu) | |
2 | g.237334704C>A | CA351188315 | COL6A3 | c.1611-1156G>T c.8533G>T (p.Gly2845Trp) c.1278G>T c.19G>T (p.Gly7Trp) c.9151G>T (p.Gly3051Trp) c.7327G>T (p.Gly2443Trp) c.7330G>T (p.Gly2444Trp) n.5593G>T n.83G>T c.8551G>T (p.Gly2851Trp) c.7930G>T (p.Gly2644Trp) c.8650G>T (p.Gly2884Trp) c.9148G>T (p.Gly3050Trp) c.6745G>T (p.Gly2249Trp) | |
2 | g.237334704C= | CA1337606417 | COL6A3 | c.1611-1156G= c.8533G= (p.Gly2845=) c.1278G= c.19G= (p.Gly7=) c.9151G= (p.Gly3051=) c.7327G= (p.Gly2443=) c.7330G= (p.Gly2444=) n.5593G= n.83G= c.8551G= (p.Gly2851=) c.7930G= (p.Gly2644=) c.8650G= (p.Gly2884=) c.9148G= (p.Gly3050=) c.6745G= (p.Gly2249=) | |
2 | g.237334704C>G | CA351188311 | COL6A3 | c.1611-1156G>C c.8533G>C (p.Gly2845Arg) c.1278G>C c.19G>C (p.Gly7Arg) c.9151G>C (p.Gly3051Arg) c.7327G>C (p.Gly2443Arg) c.7330G>C (p.Gly2444Arg) n.5593G>C n.83G>C c.8551G>C (p.Gly2851Arg) c.7930G>C (p.Gly2644Arg) c.8650G>C (p.Gly2884Arg) c.9148G>C (p.Gly3050Arg) c.6745G>C (p.Gly2249Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334704C>T | CA351188313 | COL6A3 | c.1611-1156G>A c.8533G>A (p.Gly2845Arg) c.1278G>A c.19G>A (p.Gly7Arg) c.9151G>A (p.Gly3051Arg) c.7327G>A (p.Gly2443Arg) c.7330G>A (p.Gly2444Arg) n.5593G>A n.83G>A c.8551G>A (p.Gly2851Arg) c.7930G>A (p.Gly2644Arg) c.8650G>A (p.Gly2884Arg) c.9148G>A (p.Gly3050Arg) c.6745G>A (p.Gly2249Arg) | |
2 | g.237334705A>C | CA431698691 | COL6A3 | c.1611-1157T>G c.8532T>G (p.Ala2844=) c.1277T>G c.18T>G (p.Ala6=) c.9150T>G (p.Ala3050=) c.7326T>G (p.Ala2442=) c.7329T>G (p.Ala2443=) n.5592T>G n.82T>G c.8550T>G (p.Ala2850=) c.7929T>G (p.Ala2643=) c.8649T>G (p.Ala2883=) c.9147T>G (p.Ala3049=) c.6744T>G (p.Ala2248=) | |
2 | g.237334705A>G | CA431698693 | COL6A3 | c.1611-1157T>C c.8532T>C (p.Ala2844=) c.1277T>C c.18T>C (p.Ala6=) c.9150T>C (p.Ala3050=) c.7326T>C (p.Ala2442=) c.7329T>C (p.Ala2443=) n.5592T>C n.82T>C c.8550T>C (p.Ala2850=) c.7929T>C (p.Ala2643=) c.8649T>C (p.Ala2883=) c.9147T>C (p.Ala3049=) c.6744T>C (p.Ala2248=) | |
2 | g.237334705A>T | CA431698695 | COL6A3 | c.1611-1157T>A c.8532T>A (p.Ala2844=) c.1277T>A c.18T>A (p.Ala6=) c.9150T>A (p.Ala3050=) c.7326T>A (p.Ala2442=) c.7329T>A (p.Ala2443=) n.5592T>A n.82T>A c.8550T>A (p.Ala2850=) c.7929T>A (p.Ala2643=) c.8649T>A (p.Ala2883=) c.9147T>A (p.Ala3049=) c.6744T>A (p.Ala2248=) | |
2 | g.237334706G>A | CA351188316 | COL6A3 | c.1611-1158C>T c.8531C>T (p.Ala2844Val) c.1276C>T c.17C>T (p.Ala6Val) c.9149C>T (p.Ala3050Val) c.7325C>T (p.Ala2442Val) c.7328C>T (p.Ala2443Val) n.5591C>T n.81C>T c.8549C>T (p.Ala2850Val) c.7928C>T (p.Ala2643Val) c.8648C>T (p.Ala2883Val) c.9146C>T (p.Ala3049Val) c.6743C>T (p.Ala2248Val) | gnomAD v4 |
2 | g.237334706G>C | CA351188318 | COL6A3 | c.1611-1158C>G c.8531C>G (p.Ala2844Gly) c.1276C>G c.17C>G (p.Ala6Gly) c.9149C>G (p.Ala3050Gly) c.7325C>G (p.Ala2442Gly) c.7328C>G (p.Ala2443Gly) n.5591C>G n.81C>G c.8549C>G (p.Ala2850Gly) c.7928C>G (p.Ala2643Gly) c.8648C>G (p.Ala2883Gly) c.9146C>G (p.Ala3049Gly) c.6743C>G (p.Ala2248Gly) | |
2 | g.237334706G>T | CA351188320 | COL6A3 | c.1611-1158C>A c.8531C>A (p.Ala2844Asp) c.1276C>A c.17C>A (p.Ala6Asp) c.9149C>A (p.Ala3050Asp) c.7325C>A (p.Ala2442Asp) c.7328C>A (p.Ala2443Asp) n.5591C>A n.81C>A c.8549C>A (p.Ala2850Asp) c.7928C>A (p.Ala2643Asp) c.8648C>A (p.Ala2883Asp) c.9146C>A (p.Ala3049Asp) c.6743C>A (p.Ala2248Asp) | dbSNP |
2 | g.237334707C>A | CA2187347 | COL6A3 | c.1611-1159G>T c.8530G>T (p.Ala2844Ser) c.1275G>T c.16G>T (p.Ala6Ser) c.9148G>T (p.Ala3050Ser) c.7324G>T (p.Ala2442Ser) c.7327G>T (p.Ala2443Ser) n.5590G>T n.80G>T c.8548G>T (p.Ala2850Ser) c.7927G>T (p.Ala2643Ser) c.8647G>T (p.Ala2883Ser) c.9145G>T (p.Ala3049Ser) c.6742G>T (p.Ala2248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334707C= | CA1337606418 | COL6A3 | c.1611-1159G= c.8530G= (p.Ala2844=) c.1275G= c.16G= (p.Ala6=) c.9148G= (p.Ala3050=) c.7324G= (p.Ala2442=) c.7327G= (p.Ala2443=) n.5590G= n.80G= c.8548G= (p.Ala2850=) c.7927G= (p.Ala2643=) c.8647G= (p.Ala2883=) c.9145G= (p.Ala3049=) c.6742G= (p.Ala2248=) | |
2 | g.237334707C>G | CA351188325 | COL6A3 | c.1611-1159G>C c.8530G>C (p.Ala2844Pro) c.1275G>C c.16G>C (p.Ala6Pro) c.9148G>C (p.Ala3050Pro) c.7324G>C (p.Ala2442Pro) c.7327G>C (p.Ala2443Pro) n.5590G>C n.80G>C c.8548G>C (p.Ala2850Pro) c.7927G>C (p.Ala2643Pro) c.8647G>C (p.Ala2883Pro) c.9145G>C (p.Ala3049Pro) c.6742G>C (p.Ala2248Pro) | |
2 | g.237334707C>T | CA2187346 | COL6A3 | c.1611-1159G>A c.8530G>A (p.Ala2844Thr) c.1275G>A c.16G>A (p.Ala6Thr) c.9148G>A (p.Ala3050Thr) c.7324G>A (p.Ala2442Thr) c.7327G>A (p.Ala2443Thr) n.5590G>A n.80G>A c.8548G>A (p.Ala2850Thr) c.7927G>A (p.Ala2643Thr) c.8647G>A (p.Ala2883Thr) c.9145G>A (p.Ala3049Thr) c.6742G>A (p.Ala2248Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334708G>A | CA2187348 | COL6A3 | c.1611-1160C>T c.8529C>T (p.Leu2843=) c.1274C>T c.15C>T (p.Leu5=) c.9147C>T (p.Leu3049=) c.7323C>T (p.Leu2441=) c.7326C>T (p.Leu2442=) n.5589C>T n.79C>T c.8547C>T (p.Leu2849=) c.7926C>T (p.Leu2642=) c.8646C>T (p.Leu2882=) c.9144C>T (p.Leu3048=) c.6741C>T (p.Leu2247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334708G>C | CA431698716 | COL6A3 | c.1611-1160C>G c.8529C>G (p.Leu2843=) c.1274C>G c.15C>G (p.Leu5=) c.9147C>G (p.Leu3049=) c.7323C>G (p.Leu2441=) c.7326C>G (p.Leu2442=) n.5589C>G n.79C>G c.8547C>G (p.Leu2849=) c.7926C>G (p.Leu2642=) c.8646C>G (p.Leu2882=) c.9144C>G (p.Leu3048=) c.6741C>G (p.Leu2247=) | |
2 | g.237334708G= | CA1337606419 | COL6A3 | c.1611-1160C= c.8529C= (p.Leu2843=) c.1274C= c.15C= (p.Leu5=) c.9147C= (p.Leu3049=) c.7323C= (p.Leu2441=) c.7326C= (p.Leu2442=) n.5589C= n.79C= c.8547C= (p.Leu2849=) c.7926C= (p.Leu2642=) c.8646C= (p.Leu2882=) c.9144C= (p.Leu3048=) c.6741C= (p.Leu2247=) | |
2 | g.237334708G>T | CA431698714 | COL6A3 | c.1611-1160C>A c.8529C>A (p.Leu2843=) c.1274C>A c.15C>A (p.Leu5=) c.9147C>A (p.Leu3049=) c.7323C>A (p.Leu2441=) c.7326C>A (p.Leu2442=) n.5589C>A n.79C>A c.8547C>A (p.Leu2849=) c.7926C>A (p.Leu2642=) c.8646C>A (p.Leu2882=) c.9144C>A (p.Leu3048=) c.6741C>A (p.Leu2247=) | |
2 | g.237334709A>C | CA351188332 | COL6A3 | c.1611-1161T>G c.8528T>G (p.Leu2843Arg) c.1273T>G c.14T>G (p.Leu5Arg) c.9146T>G (p.Leu3049Arg) c.7322T>G (p.Leu2441Arg) c.7325T>G (p.Leu2442Arg) n.5588T>G n.78T>G c.8546T>G (p.Leu2849Arg) c.7925T>G (p.Leu2642Arg) c.8645T>G (p.Leu2882Arg) c.9143T>G (p.Leu3048Arg) c.6740T>G (p.Leu2247Arg) | |
2 | g.237334709A>G | CA351188334 | COL6A3 | c.1611-1161T>C c.8528T>C (p.Leu2843Pro) c.1273T>C c.14T>C (p.Leu5Pro) c.9146T>C (p.Leu3049Pro) c.7322T>C (p.Leu2441Pro) c.7325T>C (p.Leu2442Pro) n.5588T>C n.78T>C c.8546T>C (p.Leu2849Pro) c.7925T>C (p.Leu2642Pro) c.8645T>C (p.Leu2882Pro) c.9143T>C (p.Leu3048Pro) c.6740T>C (p.Leu2247Pro) | |
2 | g.237334709A>T | CA351188336 | COL6A3 | c.1611-1161T>A c.8528T>A (p.Leu2843His) c.1273T>A c.14T>A (p.Leu5His) c.9146T>A (p.Leu3049His) c.7322T>A (p.Leu2441His) c.7325T>A (p.Leu2442His) n.5588T>A n.78T>A c.8546T>A (p.Leu2849His) c.7925T>A (p.Leu2642His) c.8645T>A (p.Leu2882His) c.9143T>A (p.Leu3048His) c.6740T>A (p.Leu2247His) | |
2 | g.237334710G>A | CA351188337 | COL6A3 | c.1611-1162C>T c.8527C>T (p.Leu2843Phe) c.1272C>T c.13C>T (p.Leu5Phe) c.9145C>T (p.Leu3049Phe) c.7321C>T (p.Leu2441Phe) c.7324C>T (p.Leu2442Phe) n.5587C>T n.77C>T c.8545C>T (p.Leu2849Phe) c.7924C>T (p.Leu2642Phe) c.8644C>T (p.Leu2882Phe) c.9142C>T (p.Leu3048Phe) c.6739C>T (p.Leu2247Phe) | |
2 | g.237334710G>C | CA351188340 | COL6A3 | c.1611-1162C>G c.8527C>G (p.Leu2843Val) c.1272C>G c.13C>G (p.Leu5Val) c.9145C>G (p.Leu3049Val) c.7321C>G (p.Leu2441Val) c.7324C>G (p.Leu2442Val) n.5587C>G n.77C>G c.8545C>G (p.Leu2849Val) c.7924C>G (p.Leu2642Val) c.8644C>G (p.Leu2882Val) c.9142C>G (p.Leu3048Val) c.6739C>G (p.Leu2247Val) | |
2 | g.237334710G= | CA1337606420 | COL6A3 | c.1611-1162C= c.8527C= (p.Leu2843=) c.1272C= c.13C= (p.Leu5=) c.9145C= (p.Leu3049=) c.7321C= (p.Leu2441=) c.7324C= (p.Leu2442=) n.5587C= n.77C= c.8545C= (p.Leu2849=) c.7924C= (p.Leu2642=) c.8644C= (p.Leu2882=) c.9142C= (p.Leu3048=) c.6739C= (p.Leu2247=) | |
2 | g.237334710G>T | CA351188343 | COL6A3 | c.1611-1162C>A c.8527C>A (p.Leu2843Ile) c.1272C>A c.13C>A (p.Leu5Ile) c.9145C>A (p.Leu3049Ile) c.7321C>A (p.Leu2441Ile) c.7324C>A (p.Leu2442Ile) n.5587C>A n.77C>A c.8545C>A (p.Leu2849Ile) c.7924C>A (p.Leu2642Ile) c.8644C>A (p.Leu2882Ile) c.9142C>A (p.Leu3048Ile) c.6739C>A (p.Leu2247Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334711C>A | CA431698741 | COL6A3 | c.1611-1163G>T c.8526G>T (p.Leu2842=) c.1271G>T c.12G>T (p.Leu4=) c.9144G>T (p.Leu3048=) c.7320G>T (p.Leu2440=) c.7323G>T (p.Leu2441=) n.5586G>T n.76G>T c.8544G>T (p.Leu2848=) c.7923G>T (p.Leu2641=) c.8643G>T (p.Leu2881=) c.9141G>T (p.Leu3047=) c.6738G>T (p.Leu2246=) | |
2 | g.237334711C>G | CA431698737 | COL6A3 | c.1611-1163G>C c.8526G>C (p.Leu2842=) c.1271G>C c.12G>C (p.Leu4=) c.9144G>C (p.Leu3048=) c.7320G>C (p.Leu2440=) c.7323G>C (p.Leu2441=) n.5586G>C n.76G>C c.8544G>C (p.Leu2848=) c.7923G>C (p.Leu2641=) c.8643G>C (p.Leu2881=) c.9141G>C (p.Leu3047=) c.6738G>C (p.Leu2246=) | |
2 | g.237334711C>T | CA431698739 | COL6A3 | c.1611-1163G>A c.8526G>A (p.Leu2842=) c.1271G>A c.12G>A (p.Leu4=) c.9144G>A (p.Leu3048=) c.7320G>A (p.Leu2440=) c.7323G>A (p.Leu2441=) n.5586G>A n.76G>A c.8544G>A (p.Leu2848=) c.7923G>A (p.Leu2641=) c.8643G>A (p.Leu2881=) c.9141G>A (p.Leu3047=) c.6738G>A (p.Leu2246=) | gnomAD v4 |
2 | g.237334712A>C | CA351188345 | COL6A3 | c.1611-1164T>G c.8525T>G (p.Leu2842Arg) c.1270T>G c.11T>G (p.Leu4Arg) c.9143T>G (p.Leu3048Arg) c.7319T>G (p.Leu2440Arg) c.7322T>G (p.Leu2441Arg) n.5585T>G n.75T>G c.8543T>G (p.Leu2848Arg) c.7922T>G (p.Leu2641Arg) c.8642T>G (p.Leu2881Arg) c.9140T>G (p.Leu3047Arg) c.6737T>G (p.Leu2246Arg) | |
2 | g.237334712A>G | CA351188349 | COL6A3 | c.1611-1164T>C c.8525T>C (p.Leu2842Pro) c.1270T>C c.11T>C (p.Leu4Pro) c.9143T>C (p.Leu3048Pro) c.7319T>C (p.Leu2440Pro) c.7322T>C (p.Leu2441Pro) n.5585T>C n.75T>C c.8543T>C (p.Leu2848Pro) c.7922T>C (p.Leu2641Pro) c.8642T>C (p.Leu2881Pro) c.9140T>C (p.Leu3047Pro) c.6737T>C (p.Leu2246Pro) | |
2 | g.237334712A>T | CA351188347 | COL6A3 | c.1611-1164T>A c.8525T>A (p.Leu2842Gln) c.1270T>A c.11T>A (p.Leu4Gln) c.9143T>A (p.Leu3048Gln) c.7319T>A (p.Leu2440Gln) c.7322T>A (p.Leu2441Gln) n.5585T>A n.75T>A c.8543T>A (p.Leu2848Gln) c.7922T>A (p.Leu2641Gln) c.8642T>A (p.Leu2881Gln) c.9140T>A (p.Leu3047Gln) c.6737T>A (p.Leu2246Gln) | gnomAD v4 |
2 | g.237334713G>A | CA431698747 | COL6A3 | c.1611-1165C>T c.8524C>T (p.Leu2842=) c.1269C>T c.10C>T (p.Leu4=) c.9142C>T (p.Leu3048=) c.7318C>T (p.Leu2440=) c.7321C>T (p.Leu2441=) n.5584C>T n.74C>T c.8542C>T (p.Leu2848=) c.7921C>T (p.Leu2641=) c.8641C>T (p.Leu2881=) c.9139C>T (p.Leu3047=) c.6736C>T (p.Leu2246=) | COSMIC |
2 | g.237334713G>C | CA351188352 | COL6A3 | c.1611-1165C>G c.8524C>G (p.Leu2842Val) c.1269C>G c.10C>G (p.Leu4Val) c.9142C>G (p.Leu3048Val) c.7318C>G (p.Leu2440Val) c.7321C>G (p.Leu2441Val) n.5584C>G n.74C>G c.8542C>G (p.Leu2848Val) c.7921C>G (p.Leu2641Val) c.8641C>G (p.Leu2881Val) c.9139C>G (p.Leu3047Val) c.6736C>G (p.Leu2246Val) | |
2 | g.237334713G>T | CA351188355 | COL6A3 | c.1611-1165C>A c.8524C>A (p.Leu2842Met) c.1269C>A c.10C>A (p.Leu4Met) c.9142C>A (p.Leu3048Met) c.7318C>A (p.Leu2440Met) c.7321C>A (p.Leu2441Met) n.5584C>A n.74C>A c.8542C>A (p.Leu2848Met) c.7921C>A (p.Leu2641Met) c.8641C>A (p.Leu2881Met) c.9139C>A (p.Leu3047Met) c.6736C>A (p.Leu2246Met) | |
2 | g.237334714G>A | CA431698752 | COL6A3 | c.1611-1166C>T c.8523C>T (p.Gly2841=) c.1268C>T c.9C>T (p.Gly3=) c.9141C>T (p.Gly3047=) c.7317C>T (p.Gly2439=) c.7320C>T (p.Gly2440=) n.5583C>T n.73C>T c.8541C>T (p.Gly2847=) c.7920C>T (p.Gly2640=) c.8640C>T (p.Gly2880=) c.9138C>T (p.Gly3046=) c.6735C>T (p.Gly2245=) | |
2 | g.237334714G>C | CA2187349 | COL6A3 | c.1611-1166C>G c.8523C>G (p.Gly2841=) c.1268C>G c.9C>G (p.Gly3=) c.9141C>G (p.Gly3047=) c.7317C>G (p.Gly2439=) c.7320C>G (p.Gly2440=) n.5583C>G n.73C>G c.8541C>G (p.Gly2847=) c.7920C>G (p.Gly2640=) c.8640C>G (p.Gly2880=) c.9138C>G (p.Gly3046=) c.6735C>G (p.Gly2245=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334714G= | CA1337606421 | COL6A3 | c.1611-1166C= c.8523C= (p.Gly2841=) c.1268C= c.9C= (p.Gly3=) c.9141C= (p.Gly3047=) c.7317C= (p.Gly2439=) c.7320C= (p.Gly2440=) n.5583C= n.73C= c.8541C= (p.Gly2847=) c.7920C= (p.Gly2640=) c.8640C= (p.Gly2880=) c.9138C= (p.Gly3046=) c.6735C= (p.Gly2245=) | |
2 | g.237334714G>T | CA431698756 | COL6A3 | c.1611-1166C>A c.8523C>A (p.Gly2841=) c.1268C>A c.9C>A (p.Gly3=) c.9141C>A (p.Gly3047=) c.7317C>A (p.Gly2439=) c.7320C>A (p.Gly2440=) n.5583C>A n.73C>A c.8541C>A (p.Gly2847=) c.7920C>A (p.Gly2640=) c.8640C>A (p.Gly2880=) c.9138C>A (p.Gly3046=) c.6735C>A (p.Gly2245=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334715C>A | CA351188363 | COL6A3 | c.1611-1167G>T c.8522G>T (p.Gly2841Val) c.1267G>T c.8G>T (p.Gly3Val) c.9140G>T (p.Gly3047Val) c.7316G>T (p.Gly2439Val) c.7319G>T (p.Gly2440Val) n.5582G>T n.72G>T c.8540G>T (p.Gly2847Val) c.7919G>T (p.Gly2640Val) c.8639G>T (p.Gly2880Val) c.9137G>T (p.Gly3046Val) c.6734G>T (p.Gly2245Val) | dbSNP |
2 | g.237334715C= | CA1337606422 | COL6A3 | c.1611-1167G= c.8522G= (p.Gly2841=) c.1267G= c.8G= (p.Gly3=) c.9140G= (p.Gly3047=) c.7316G= (p.Gly2439=) c.7319G= (p.Gly2440=) n.5582G= n.72G= c.8540G= (p.Gly2847=) c.7919G= (p.Gly2640=) c.8639G= (p.Gly2880=) c.9137G= (p.Gly3046=) c.6734G= (p.Gly2245=) | |
2 | g.237334715C>G | CA351188366 | COL6A3 | c.1611-1167G>C c.8522G>C (p.Gly2841Ala) c.1267G>C c.8G>C (p.Gly3Ala) c.9140G>C (p.Gly3047Ala) c.7316G>C (p.Gly2439Ala) c.7319G>C (p.Gly2440Ala) n.5582G>C n.72G>C c.8540G>C (p.Gly2847Ala) c.7919G>C (p.Gly2640Ala) c.8639G>C (p.Gly2880Ala) c.9137G>C (p.Gly3046Ala) c.6734G>C (p.Gly2245Ala) | |
2 | g.237334715C>T | CA351188368 | COL6A3 | c.1611-1167G>A c.8522G>A (p.Gly2841Asp) c.1267G>A c.8G>A (p.Gly3Asp) c.9140G>A (p.Gly3047Asp) c.7316G>A (p.Gly2439Asp) c.7319G>A (p.Gly2440Asp) n.5582G>A n.72G>A c.8540G>A (p.Gly2847Asp) c.7919G>A (p.Gly2640Asp) c.8639G>A (p.Gly2880Asp) c.9137G>A (p.Gly3046Asp) c.6734G>A (p.Gly2245Asp) | |
2 | g.237334716C>A | CA351188371 | COL6A3 | c.1611-1168G>T c.8521G>T (p.Gly2841Cys) c.1266G>T c.7G>T (p.Gly3Cys) c.9139G>T (p.Gly3047Cys) c.7315G>T (p.Gly2439Cys) c.7318G>T (p.Gly2440Cys) n.5581G>T n.71G>T c.8539G>T (p.Gly2847Cys) c.7918G>T (p.Gly2640Cys) c.8638G>T (p.Gly2880Cys) c.9136G>T (p.Gly3046Cys) c.6733G>T (p.Gly2245Cys) | |
2 | g.237334716C= | CA1337606423 | COL6A3 | c.1611-1168G= c.8521G= (p.Gly2841=) c.1266G= c.7G= (p.Gly3=) c.9139G= (p.Gly3047=) c.7315G= (p.Gly2439=) c.7318G= (p.Gly2440=) n.5581G= n.71G= c.8539G= (p.Gly2847=) c.7918G= (p.Gly2640=) c.8638G= (p.Gly2880=) c.9136G= (p.Gly3046=) c.6733G= (p.Gly2245=) | |
2 | g.237334716C>G | CA351188373 | COL6A3 | c.1611-1168G>C c.8521G>C (p.Gly2841Arg) c.1266G>C c.7G>C (p.Gly3Arg) c.9139G>C (p.Gly3047Arg) c.7315G>C (p.Gly2439Arg) c.7318G>C (p.Gly2440Arg) n.5581G>C n.71G>C c.8539G>C (p.Gly2847Arg) c.7918G>C (p.Gly2640Arg) c.8638G>C (p.Gly2880Arg) c.9136G>C (p.Gly3046Arg) c.6733G>C (p.Gly2245Arg) | |
2 | g.237334716C>T | CA351188378 | COL6A3 | c.1611-1168G>A c.8521G>A (p.Gly2841Ser) c.1266G>A c.7G>A (p.Gly3Ser) c.9139G>A (p.Gly3047Ser) c.7315G>A (p.Gly2439Ser) c.7318G>A (p.Gly2440Ser) n.5581G>A n.71G>A c.8539G>A (p.Gly2847Ser) c.7918G>A (p.Gly2640Ser) c.8638G>A (p.Gly2880Ser) c.9136G>A (p.Gly3046Ser) c.6733G>A (p.Gly2245Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334717T>A | CA431698770 | COL6A3 | c.1611-1169A>T c.8520A>T (p.Gly2840=) c.1265A>T c.6A>T (p.Gly2=) c.9138A>T (p.Gly3046=) c.7314A>T (p.Gly2438=) c.7317A>T (p.Gly2439=) n.5580A>T n.70A>T c.8538A>T (p.Gly2846=) c.7917A>T (p.Gly2639=) c.8637A>T (p.Gly2879=) c.9135A>T (p.Gly3045=) c.6732A>T (p.Gly2244=) | |
2 | g.237334717T>C | CA431698771 | COL6A3 | c.1611-1169A>G c.8520A>G (p.Gly2840=) c.1265A>G c.6A>G (p.Gly2=) c.9138A>G (p.Gly3046=) c.7314A>G (p.Gly2438=) c.7317A>G (p.Gly2439=) n.5580A>G n.70A>G c.8538A>G (p.Gly2846=) c.7917A>G (p.Gly2639=) c.8637A>G (p.Gly2879=) c.9135A>G (p.Gly3045=) c.6732A>G (p.Gly2244=) | ClinVar dbSNP gnomAD v4 |
2 | g.237334717T>G | CA431698772 | COL6A3 | c.1611-1169A>C c.8520A>C (p.Gly2840=) c.1265A>C c.6A>C (p.Gly2=) c.9138A>C (p.Gly3046=) c.7314A>C (p.Gly2438=) c.7317A>C (p.Gly2439=) n.5580A>C n.70A>C c.8538A>C (p.Gly2846=) c.7917A>C (p.Gly2639=) c.8637A>C (p.Gly2879=) c.9135A>C (p.Gly3045=) c.6732A>C (p.Gly2244=) | dbSNP |
2 | g.237334717T= | CA1337606424 | COL6A3 | c.1611-1169A= c.8520A= (p.Gly2840=) c.1265A= c.6A= (p.Gly2=) c.9138A= (p.Gly3046=) c.7314A= (p.Gly2438=) c.7317A= (p.Gly2439=) n.5580A= n.70A= c.8538A= (p.Gly2846=) c.7917A= (p.Gly2639=) c.8637A= (p.Gly2879=) c.9135A= (p.Gly3045=) c.6732A= (p.Gly2244=) | |
2 | g.237334718C>A | CA351188381 | COL6A3 | c.1611-1170G>T c.8519G>T (p.Gly2840Val) c.1264G>T c.5G>T (p.Gly2Val) c.9137G>T (p.Gly3046Val) c.7313G>T (p.Gly2438Val) c.7316G>T (p.Gly2439Val) n.5579G>T n.69G>T c.8537G>T (p.Gly2846Val) c.7916G>T (p.Gly2639Val) c.8636G>T (p.Gly2879Val) c.9134G>T (p.Gly3045Val) c.6731G>T (p.Gly2244Val) | ClinVar dbSNP gnomAD v4 |
2 | g.237334718C= | CA1337606425 | COL6A3 | c.1611-1170G= c.8519G= (p.Gly2840=) c.1264G= c.5G= (p.Gly2=) c.9137G= (p.Gly3046=) c.7313G= (p.Gly2438=) c.7316G= (p.Gly2439=) n.5579G= n.69G= c.8537G= (p.Gly2846=) c.7916G= (p.Gly2639=) c.8636G= (p.Gly2879=) c.9134G= (p.Gly3045=) c.6731G= (p.Gly2244=) | |
2 | g.237334718C>G | CA351188384 | COL6A3 | c.1611-1170G>C c.8519G>C (p.Gly2840Ala) c.1264G>C c.5G>C (p.Gly2Ala) c.9137G>C (p.Gly3046Ala) c.7313G>C (p.Gly2438Ala) c.7316G>C (p.Gly2439Ala) n.5579G>C n.69G>C c.8537G>C (p.Gly2846Ala) c.7916G>C (p.Gly2639Ala) c.8636G>C (p.Gly2879Ala) c.9134G>C (p.Gly3045Ala) c.6731G>C (p.Gly2244Ala) | dbSNP |
2 | g.237334718C>T | CA351188383 | COL6A3 | c.1611-1170G>A c.8519G>A (p.Gly2840Glu) c.1264G>A c.5G>A (p.Gly2Glu) c.9137G>A (p.Gly3046Glu) c.7313G>A (p.Gly2438Glu) c.7316G>A (p.Gly2439Glu) n.5579G>A n.69G>A c.8537G>A (p.Gly2846Glu) c.7916G>A (p.Gly2639Glu) c.8636G>A (p.Gly2879Glu) c.9134G>A (p.Gly3045Glu) c.6731G>A (p.Gly2244Glu) | gnomAD v4 |
2 | g.237334719C>A | CA351188385 | COL6A3 | c.1611-1171G>T c.8518G>T (p.Gly2840Ter) c.1263G>T c.4G>T (p.Gly2Ter) c.9136G>T (p.Gly3046Ter) c.7312G>T (p.Gly2438Ter) c.7315G>T (p.Gly2439Ter) n.5578G>T n.68G>T c.8536G>T (p.Gly2846Ter) c.7915G>T (p.Gly2639Ter) c.8635G>T (p.Gly2879Ter) c.9133G>T (p.Gly3045Ter) c.6730G>T (p.Gly2244Ter) | |
2 | g.237334719C>G | CA351188386 | COL6A3 | c.1611-1171G>C c.8518G>C (p.Gly2840Arg) c.1263G>C c.4G>C (p.Gly2Arg) c.9136G>C (p.Gly3046Arg) c.7312G>C (p.Gly2438Arg) c.7315G>C (p.Gly2439Arg) n.5578G>C n.68G>C c.8536G>C (p.Gly2846Arg) c.7915G>C (p.Gly2639Arg) c.8635G>C (p.Gly2879Arg) c.9133G>C (p.Gly3045Arg) c.6730G>C (p.Gly2244Arg) | |
2 | g.237334719C>T | CA351188387 | COL6A3 | c.1611-1171G>A c.8518G>A (p.Gly2840Arg) c.1263G>A c.4G>A (p.Gly2Arg) c.9136G>A (p.Gly3046Arg) c.7312G>A (p.Gly2438Arg) c.7315G>A (p.Gly2439Arg) n.5578G>A n.68G>A c.8536G>A (p.Gly2846Arg) c.7915G>A (p.Gly2639Arg) c.8635G>A (p.Gly2879Arg) c.9133G>A (p.Gly3045Arg) c.6730G>A (p.Gly2244Arg) | |
2 | g.237334720A>C | CA351188389 | COL6A3 | c.1611-1172T>G c.8517T>G (p.Ile2839Met) c.1262T>G c.3T>G (p.Ile1Met) c.9135T>G (p.Ile3045Met) c.7311T>G (p.Ile2437Met) c.7314T>G (p.Ile2438Met) n.5577T>G n.67T>G c.8535T>G (p.Ile2845Met) c.7914T>G (p.Ile2638Met) c.8634T>G (p.Ile2878Met) c.9132T>G (p.Ile3044Met) c.6729T>G (p.Ile2243Met) | |
2 | g.237334720A>G | CA431698785 | COL6A3 | c.1611-1172T>C c.8517T>C (p.Ile2839=) c.1262T>C c.3T>C (p.Ile1=) c.9135T>C (p.Ile3045=) c.7311T>C (p.Ile2437=) c.7314T>C (p.Ile2438=) n.5577T>C n.67T>C c.8535T>C (p.Ile2845=) c.7914T>C (p.Ile2638=) c.8634T>C (p.Ile2878=) c.9132T>C (p.Ile3044=) c.6729T>C (p.Ile2243=) | |
2 | g.237334720A>T | CA431698787 | COL6A3 | c.1611-1172T>A c.8517T>A (p.Ile2839=) c.1262T>A c.3T>A (p.Ile1=) c.9135T>A (p.Ile3045=) c.7311T>A (p.Ile2437=) c.7314T>A (p.Ile2438=) n.5577T>A n.67T>A c.8535T>A (p.Ile2845=) c.7914T>A (p.Ile2638=) c.8634T>A (p.Ile2878=) c.9132T>A (p.Ile3044=) c.6729T>A (p.Ile2243=) | |
2 | g.237334721A= | CA1337606426 | COL6A3 | c.1611-1173T= c.8516T= (p.Ile2839=) c.1261T= c.2T= (p.Ile1=) c.9134T= (p.Ile3045=) c.7310T= (p.Ile2437=) c.7313T= (p.Ile2438=) n.5576T= n.66T= c.8534T= (p.Ile2845=) c.7913T= (p.Ile2638=) c.8633T= (p.Ile2878=) c.9131T= (p.Ile3044=) c.6728T= (p.Ile2243=) | |
2 | g.237334721A>C | CA351188392 | COL6A3 | c.1611-1173T>G c.8516T>G (p.Ile2839Ser) c.1261T>G c.2T>G (p.Ile1Ser) c.9134T>G (p.Ile3045Ser) c.7310T>G (p.Ile2437Ser) c.7313T>G (p.Ile2438Ser) n.5576T>G n.66T>G c.8534T>G (p.Ile2845Ser) c.7913T>G (p.Ile2638Ser) c.8633T>G (p.Ile2878Ser) c.9131T>G (p.Ile3044Ser) c.6728T>G (p.Ile2243Ser) | |
2 | g.237334721A>G | CA351188395 | COL6A3 | c.1611-1173T>C c.8516T>C (p.Ile2839Thr) c.1261T>C c.2T>C (p.Ile1Thr) c.9134T>C (p.Ile3045Thr) c.7310T>C (p.Ile2437Thr) c.7313T>C (p.Ile2438Thr) n.5576T>C n.66T>C c.8534T>C (p.Ile2845Thr) c.7913T>C (p.Ile2638Thr) c.8633T>C (p.Ile2878Thr) c.9131T>C (p.Ile3044Thr) c.6728T>C (p.Ile2243Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334721A>T | CA351188393 | COL6A3 | c.1611-1173T>A c.8516T>A (p.Ile2839Asn) c.1261T>A c.2T>A (p.Ile1Asn) c.9134T>A (p.Ile3045Asn) c.7310T>A (p.Ile2437Asn) c.7313T>A (p.Ile2438Asn) n.5576T>A n.66T>A c.8534T>A (p.Ile2845Asn) c.7913T>A (p.Ile2638Asn) c.8633T>A (p.Ile2878Asn) c.9131T>A (p.Ile3044Asn) c.6728T>A (p.Ile2243Asn) | |
2 | g.237334722T>A | CA351188397 | COL6A3 | c.1611-1174A>T c.8515A>T (p.Ile2839Phe) c.1260A>T c.1A>T (p.Ile1Phe) c.9133A>T (p.Ile3045Phe) c.7309A>T (p.Ile2437Phe) c.7312A>T (p.Ile2438Phe) n.5575A>T n.65A>T c.8533A>T (p.Ile2845Phe) c.7912A>T (p.Ile2638Phe) c.8632A>T (p.Ile2878Phe) c.9130A>T (p.Ile3044Phe) c.6727A>T (p.Ile2243Phe) | |
2 | g.237334722T>C | CA351188398 | COL6A3 | c.1611-1174A>G c.8515A>G (p.Ile2839Val) c.1260A>G c.1A>G (p.Ile1Val) c.9133A>G (p.Ile3045Val) c.7309A>G (p.Ile2437Val) c.7312A>G (p.Ile2438Val) n.5575A>G n.65A>G c.8533A>G (p.Ile2845Val) c.7912A>G (p.Ile2638Val) c.8632A>G (p.Ile2878Val) c.9130A>G (p.Ile3044Val) c.6727A>G (p.Ile2243Val) | ClinVar dbSNP |
2 | g.237334722T>G | CA351188402 | COL6A3 | c.1611-1174A>C c.8515A>C (p.Ile2839Leu) c.1260A>C c.1A>C (p.Ile1Leu) c.9133A>C (p.Ile3045Leu) c.7309A>C (p.Ile2437Leu) c.7312A>C (p.Ile2438Leu) n.5575A>C n.65A>C c.8533A>C (p.Ile2845Leu) c.7912A>C (p.Ile2638Leu) c.8632A>C (p.Ile2878Leu) c.9130A>C (p.Ile3044Leu) c.6727A>C (p.Ile2243Leu) | |
2 | g.237334722T= | CA1337606427 | COL6A3 | c.1611-1174A= c.8515A= (p.Ile2839=) c.1260A= c.1A= (p.Ile1=) c.9133A= (p.Ile3045=) c.7309A= (p.Ile2437=) c.7312A= (p.Ile2438=) n.5575A= n.65A= c.8533A= (p.Ile2845=) c.7912A= (p.Ile2638=) c.8632A= (p.Ile2878=) c.9130A= (p.Ile3044=) c.6727A= (p.Ile2243=) | |
2 | g.237334723G>A | CA431698808 | COL6A3 | c.1611-1175C>T c.8514C>T (p.Val2838=) c.1259C>T c.9132C>T (p.Val3044=) c.7308C>T (p.Val2436=) c.7311C>T (p.Val2437=) n.5574C>T n.64C>T c.8532C>T (p.Val2844=) c.7911C>T (p.Val2637=) c.8631C>T (p.Val2877=) c.9129C>T (p.Val3043=) c.6726C>T (p.Val2242=) | |
2 | g.237334723G>C | CA431698803 | COL6A3 | c.1611-1175C>G c.8514C>G (p.Val2838=) c.1259C>G c.9132C>G (p.Val3044=) c.7308C>G (p.Val2436=) c.7311C>G (p.Val2437=) n.5574C>G n.64C>G c.8532C>G (p.Val2844=) c.7911C>G (p.Val2637=) c.8631C>G (p.Val2877=) c.9129C>G (p.Val3043=) c.6726C>G (p.Val2242=) | |
2 | g.237334723G>T | CA431698805 | COL6A3 | c.1611-1175C>A c.8514C>A (p.Val2838=) c.1259C>A c.9132C>A (p.Val3044=) c.7308C>A (p.Val2436=) c.7311C>A (p.Val2437=) n.5574C>A n.64C>A c.8532C>A (p.Val2844=) c.7911C>A (p.Val2637=) c.8631C>A (p.Val2877=) c.9129C>A (p.Val3043=) c.6726C>A (p.Val2242=) | |
2 | g.237334724A= | CA1337606428 | COL6A3 | c.1611-1176T= c.8513T= (p.Val2838=) c.1258T= c.9131T= (p.Val3044=) c.7307T= (p.Val2436=) c.7310T= (p.Val2437=) n.5573T= n.63T= c.8531T= (p.Val2844=) c.7910T= (p.Val2637=) c.8630T= (p.Val2877=) c.9128T= (p.Val3043=) c.6725T= (p.Val2242=) | |
2 | g.237334724A>C | CA351188405 | COL6A3 | c.1611-1176T>G c.8513T>G (p.Val2838Gly) c.1258T>G c.9131T>G (p.Val3044Gly) c.7307T>G (p.Val2436Gly) c.7310T>G (p.Val2437Gly) n.5573T>G n.63T>G c.8531T>G (p.Val2844Gly) c.7910T>G (p.Val2637Gly) c.8630T>G (p.Val2877Gly) c.9128T>G (p.Val3043Gly) c.6725T>G (p.Val2242Gly) | |
2 | g.237334724A>G | CA2187350 | COL6A3 | c.1611-1176T>C c.8513T>C (p.Val2838Ala) c.1258T>C c.9131T>C (p.Val3044Ala) c.7307T>C (p.Val2436Ala) c.7310T>C (p.Val2437Ala) n.5573T>C n.63T>C c.8531T>C (p.Val2844Ala) c.7910T>C (p.Val2637Ala) c.8630T>C (p.Val2877Ala) c.9128T>C (p.Val3043Ala) c.6725T>C (p.Val2242Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334724A>T | CA351188408 | COL6A3 | c.1611-1176T>A c.8513T>A (p.Val2838Asp) c.1258T>A c.9131T>A (p.Val3044Asp) c.7307T>A (p.Val2436Asp) c.7310T>A (p.Val2437Asp) n.5573T>A n.63T>A c.8531T>A (p.Val2844Asp) c.7910T>A (p.Val2637Asp) c.8630T>A (p.Val2877Asp) c.9128T>A (p.Val3043Asp) c.6725T>A (p.Val2242Asp) | |
2 | g.237334725C>A | CA351188409 | COL6A3 | c.1611-1177G>T c.8512G>T (p.Val2838Phe) c.1257G>T c.9130G>T (p.Val3044Phe) c.7306G>T (p.Val2436Phe) c.7309G>T (p.Val2437Phe) n.5572G>T n.62G>T c.8530G>T (p.Val2844Phe) c.7909G>T (p.Val2637Phe) c.8629G>T (p.Val2877Phe) c.9127G>T (p.Val3043Phe) c.6724G>T (p.Val2242Phe) | |
2 | g.237334725C= | CA1337606429 | COL6A3 | c.1611-1177G= c.8512G= (p.Val2838=) c.1257G= c.9130G= (p.Val3044=) c.7306G= (p.Val2436=) c.7309G= (p.Val2437=) n.5572G= n.62G= c.8530G= (p.Val2844=) c.7909G= (p.Val2637=) c.8629G= (p.Val2877=) c.9127G= (p.Val3043=) c.6724G= (p.Val2242=) | |
2 | g.237334725C>G | CA351188411 | COL6A3 | c.1611-1177G>C c.8512G>C (p.Val2838Leu) c.1257G>C c.9130G>C (p.Val3044Leu) c.7306G>C (p.Val2436Leu) c.7309G>C (p.Val2437Leu) n.5572G>C n.62G>C c.8530G>C (p.Val2844Leu) c.7909G>C (p.Val2637Leu) c.8629G>C (p.Val2877Leu) c.9127G>C (p.Val3043Leu) c.6724G>C (p.Val2242Leu) | |
2 | g.237334725C>T | CA2187351 | COL6A3 | c.1611-1177G>A c.8512G>A (p.Val2838Ile) c.1257G>A c.9130G>A (p.Val3044Ile) c.7306G>A (p.Val2436Ile) c.7309G>A (p.Val2437Ile) n.5572G>A n.62G>A c.8530G>A (p.Val2844Ile) c.7909G>A (p.Val2637Ile) c.8629G>A (p.Val2877Ile) c.9127G>A (p.Val3043Ile) c.6724G>A (p.Val2242Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334725dup | CA2663791949 | COL6A3 | c.1611-1177dup c.8512dup (p.Val2838GlyfsTer?) c.1257dup c.9130dup (p.Val3044GlyfsTer?) c.7306dup (p.Val2436GlyfsTer?) c.7309dup (p.Val2437GlyfsTer?) n.5572dup n.62dup c.8530dup (p.Val2844GlyfsTer?) c.7909dup (p.Val2637GlyfsTer?) c.8629dup (p.Val2877GlyfsTer?) c.9127dup (p.Val3043GlyfsTer?) c.6724dup (p.Val2242GlyfsTer?) | gnomAD v4 |
2 | g.237334726G>A | CA148095 | COL6A3 | c.1611-1178C>T c.8511C>T (p.Arg2837=) c.1256C>T c.9129C>T (p.Arg3043=) c.7305C>T (p.Arg2435=) c.7308C>T (p.Arg2436=) n.5571C>T n.61C>T c.8529C>T (p.Arg2843=) c.7908C>T (p.Arg2636=) c.8628C>T (p.Arg2876=) c.9126C>T (p.Arg3042=) c.6723C>T (p.Arg2241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334726G>C | CA431698823 | COL6A3 | c.1611-1178C>G c.8511C>G (p.Arg2837=) c.1256C>G c.9129C>G (p.Arg3043=) c.7305C>G (p.Arg2435=) c.7308C>G (p.Arg2436=) n.5571C>G n.61C>G c.8529C>G (p.Arg2843=) c.7908C>G (p.Arg2636=) c.8628C>G (p.Arg2876=) c.9126C>G (p.Arg3042=) c.6723C>G (p.Arg2241=) | |
2 | g.237334726G= | CA1337606430 | COL6A3 | c.1611-1178C= c.8511C= (p.Arg2837=) c.1256C= c.9129C= (p.Arg3043=) c.7305C= (p.Arg2435=) c.7308C= (p.Arg2436=) n.5571C= n.61C= c.8529C= (p.Arg2843=) c.7908C= (p.Arg2636=) c.8628C= (p.Arg2876=) c.9126C= (p.Arg3042=) c.6723C= (p.Arg2241=) | |
2 | g.237334726G>T | CA431698825 | COL6A3 | c.1611-1178C>A c.8511C>A (p.Arg2837=) c.1256C>A c.9129C>A (p.Arg3043=) c.7305C>A (p.Arg2435=) c.7308C>A (p.Arg2436=) n.5571C>A n.61C>A c.8529C>A (p.Arg2843=) c.7908C>A (p.Arg2636=) c.8628C>A (p.Arg2876=) c.9126C>A (p.Arg3042=) c.6723C>A (p.Arg2241=) | |
2 | g.237334727C>A | CA351188418 | COL6A3 | c.1611-1179G>T c.8510G>T (p.Arg2837Leu) c.1255G>T c.9128G>T (p.Arg3043Leu) c.7304G>T (p.Arg2435Leu) c.7307G>T (p.Arg2436Leu) n.5570G>T n.60G>T c.8528G>T (p.Arg2843Leu) c.7907G>T (p.Arg2636Leu) c.8627G>T (p.Arg2876Leu) c.9125G>T (p.Arg3042Leu) c.6722G>T (p.Arg2241Leu) | gnomAD v4 |
2 | g.237334727C= | CA1337606431 | COL6A3 | c.1611-1179G= c.8510G= (p.Arg2837=) c.1255G= c.9128G= (p.Arg3043=) c.7304G= (p.Arg2435=) c.7307G= (p.Arg2436=) n.5570G= n.60G= c.8528G= (p.Arg2843=) c.7907G= (p.Arg2636=) c.8627G= (p.Arg2876=) c.9125G= (p.Arg3042=) c.6722G= (p.Arg2241=) | |
2 | g.237334727C>G | CA351188416 | COL6A3 | c.1611-1179G>C c.8510G>C (p.Arg2837Pro) c.1255G>C c.9128G>C (p.Arg3043Pro) c.7304G>C (p.Arg2435Pro) c.7307G>C (p.Arg2436Pro) n.5570G>C n.60G>C c.8528G>C (p.Arg2843Pro) c.7907G>C (p.Arg2636Pro) c.8627G>C (p.Arg2876Pro) c.9125G>C (p.Arg3042Pro) c.6722G>C (p.Arg2241Pro) | dbSNP |
2 | g.237334727C>T | CA200142 | COL6A3 | c.1611-1179G>A c.8510G>A (p.Arg2837His) c.1255G>A c.9128G>A (p.Arg3043His) c.7304G>A (p.Arg2435His) c.7307G>A (p.Arg2436His) n.5570G>A n.60G>A c.8528G>A (p.Arg2843His) c.7907G>A (p.Arg2636His) c.8627G>A (p.Arg2876His) c.9125G>A (p.Arg3042His) c.6722G>A (p.Arg2241His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334728G>A | CA2187352 | COL6A3 | c.1611-1180C>T c.8509C>T (p.Arg2837Cys) c.1254C>T c.9127C>T (p.Arg3043Cys) c.7303C>T (p.Arg2435Cys) c.7306C>T (p.Arg2436Cys) n.5569C>T n.59C>T c.8527C>T (p.Arg2843Cys) c.7906C>T (p.Arg2636Cys) c.8626C>T (p.Arg2876Cys) c.9124C>T (p.Arg3042Cys) c.6721C>T (p.Arg2241Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334728G>C | CA351188425 | COL6A3 | c.1611-1180C>G c.8509C>G (p.Arg2837Gly) c.1254C>G c.9127C>G (p.Arg3043Gly) c.7303C>G (p.Arg2435Gly) c.7306C>G (p.Arg2436Gly) n.5569C>G n.59C>G c.8527C>G (p.Arg2843Gly) c.7906C>G (p.Arg2636Gly) c.8626C>G (p.Arg2876Gly) c.9124C>G (p.Arg3042Gly) c.6721C>G (p.Arg2241Gly) | |
2 | g.237334728G= | CA1337606432 | COL6A3 | c.1611-1180C= c.8509C= (p.Arg2837=) c.1254C= c.9127C= (p.Arg3043=) c.7303C= (p.Arg2435=) c.7306C= (p.Arg2436=) n.5569C= n.59C= c.8527C= (p.Arg2843=) c.7906C= (p.Arg2636=) c.8626C= (p.Arg2876=) c.9124C= (p.Arg3042=) c.6721C= (p.Arg2241=) | |
2 | g.237334728G>T | CA2187353 | COL6A3 | c.1611-1180C>A c.8509C>A (p.Arg2837Ser) c.1254C>A c.9127C>A (p.Arg3043Ser) c.7303C>A (p.Arg2435Ser) c.7306C>A (p.Arg2436Ser) n.5569C>A n.59C>A c.8527C>A (p.Arg2843Ser) c.7906C>A (p.Arg2636Ser) c.8626C>A (p.Arg2876Ser) c.9124C>A (p.Arg3042Ser) c.6721C>A (p.Arg2241Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334729G>A | CA431698839 | COL6A3 | c.1611-1181C>T c.8508C>T (p.Asp2836=) c.1253C>T c.9126C>T (p.Asp3042=) c.7302C>T (p.Asp2434=) c.7305C>T (p.Asp2435=) n.5568C>T n.58C>T c.8526C>T (p.Asp2842=) c.7905C>T (p.Asp2635=) c.8625C>T (p.Asp2875=) c.9123C>T (p.Asp3041=) c.6720C>T (p.Asp2240=) | |
2 | g.237334729G>C | CA351188431 | COL6A3 | c.1611-1181C>G c.8508C>G (p.Asp2836Glu) c.1253C>G c.9126C>G (p.Asp3042Glu) c.7302C>G (p.Asp2434Glu) c.7305C>G (p.Asp2435Glu) n.5568C>G n.58C>G c.8526C>G (p.Asp2842Glu) c.7905C>G (p.Asp2635Glu) c.8625C>G (p.Asp2875Glu) c.9123C>G (p.Asp3041Glu) c.6720C>G (p.Asp2240Glu) | |
2 | g.237334729G>T | CA351188432 | COL6A3 | c.1611-1181C>A c.8508C>A (p.Asp2836Glu) c.1253C>A c.9126C>A (p.Asp3042Glu) c.7302C>A (p.Asp2434Glu) c.7305C>A (p.Asp2435Glu) n.5568C>A n.58C>A c.8526C>A (p.Asp2842Glu) c.7905C>A (p.Asp2635Glu) c.8625C>A (p.Asp2875Glu) c.9123C>A (p.Asp3041Glu) c.6720C>A (p.Asp2240Glu) | |
2 | g.237334730T>A | CA351188433 | COL6A3 | c.1611-1182A>T c.8507A>T (p.Asp2836Val) c.1252A>T c.9125A>T (p.Asp3042Val) c.7301A>T (p.Asp2434Val) c.7304A>T (p.Asp2435Val) n.5567A>T n.57A>T c.8525A>T (p.Asp2842Val) c.7904A>T (p.Asp2635Val) c.8624A>T (p.Asp2875Val) c.9122A>T (p.Asp3041Val) c.6719A>T (p.Asp2240Val) | |
2 | g.237334730T>C | CA67829437 | COL6A3 | c.1611-1182A>G c.8507A>G (p.Asp2836Gly) c.1252A>G c.9125A>G (p.Asp3042Gly) c.7301A>G (p.Asp2434Gly) c.7304A>G (p.Asp2435Gly) n.5567A>G n.57A>G c.8525A>G (p.Asp2842Gly) c.7904A>G (p.Asp2635Gly) c.8624A>G (p.Asp2875Gly) c.9122A>G (p.Asp3041Gly) c.6719A>G (p.Asp2240Gly) | dbSNP gnomAD v4 |
2 | g.237334730T>G | CA351188434 | COL6A3 | c.1611-1182A>C c.8507A>C (p.Asp2836Ala) c.1252A>C c.9125A>C (p.Asp3042Ala) c.7301A>C (p.Asp2434Ala) c.7304A>C (p.Asp2435Ala) n.5567A>C n.57A>C c.8525A>C (p.Asp2842Ala) c.7904A>C (p.Asp2635Ala) c.8624A>C (p.Asp2875Ala) c.9122A>C (p.Asp3041Ala) c.6719A>C (p.Asp2240Ala) | |
2 | g.237334730T= | CA1337606433 | COL6A3 | c.1611-1182A= c.8507A= (p.Asp2836=) c.1252A= c.9125A= (p.Asp3042=) c.7301A= (p.Asp2434=) c.7304A= (p.Asp2435=) n.5567A= n.57A= c.8525A= (p.Asp2842=) c.7904A= (p.Asp2635=) c.8624A= (p.Asp2875=) c.9122A= (p.Asp3041=) c.6719A= (p.Asp2240=) | |
2 | g.237334731C>A | CA351188435 | COL6A3 | c.1611-1183G>T c.8506G>T (p.Asp2836Tyr) c.1251G>T c.9124G>T (p.Asp3042Tyr) c.7300G>T (p.Asp2434Tyr) c.7303G>T (p.Asp2435Tyr) n.5566G>T n.56G>T c.8524G>T (p.Asp2842Tyr) c.7903G>T (p.Asp2635Tyr) c.8623G>T (p.Asp2875Tyr) c.9121G>T (p.Asp3041Tyr) c.6718G>T (p.Asp2240Tyr) | |
2 | g.237334731C>G | CA351188436 | COL6A3 | c.1611-1183G>C c.8506G>C (p.Asp2836His) c.1251G>C c.9124G>C (p.Asp3042His) c.7300G>C (p.Asp2434His) c.7303G>C (p.Asp2435His) n.5566G>C n.56G>C c.8524G>C (p.Asp2842His) c.7903G>C (p.Asp2635His) c.8623G>C (p.Asp2875His) c.9121G>C (p.Asp3041His) c.6718G>C (p.Asp2240His) | |
2 | g.237334731C>T | CA351188439 | COL6A3 | c.1611-1183G>A c.8506G>A (p.Asp2836Asn) c.1251G>A c.9124G>A (p.Asp3042Asn) c.7300G>A (p.Asp2434Asn) c.7303G>A (p.Asp2435Asn) n.5566G>A n.56G>A c.8524G>A (p.Asp2842Asn) c.7903G>A (p.Asp2635Asn) c.8623G>A (p.Asp2875Asn) c.9121G>A (p.Asp3041Asn) c.6718G>A (p.Asp2240Asn) | |
2 | g.237334732C>A | CA431698854 | COL6A3 | c.1611-1184G>T c.8505G>T (p.Thr2835=) c.1250G>T c.9123G>T (p.Thr3041=) c.7299G>T (p.Thr2433=) c.7302G>T (p.Thr2434=) n.5565G>T n.55G>T c.8523G>T (p.Thr2841=) c.7902G>T (p.Thr2634=) c.8622G>T (p.Thr2874=) c.9120G>T (p.Thr3040=) c.6717G>T (p.Thr2239=) | gnomAD v4 |
2 | g.237334732C= | CA1337606434 | COL6A3 | c.1611-1184G= c.8505G= (p.Thr2835=) c.1250G= c.9123G= (p.Thr3041=) c.7299G= (p.Thr2433=) c.7302G= (p.Thr2434=) n.5565G= n.55G= c.8523G= (p.Thr2841=) c.7902G= (p.Thr2634=) c.8622G= (p.Thr2874=) c.9120G= (p.Thr3040=) c.6717G= (p.Thr2239=) | |
2 | g.237334732C>G | CA2187354 | COL6A3 | c.1611-1184G>C c.8505G>C (p.Thr2835=) c.1250G>C c.9123G>C (p.Thr3041=) c.7299G>C (p.Thr2433=) c.7302G>C (p.Thr2434=) n.5565G>C n.55G>C c.8523G>C (p.Thr2841=) c.7902G>C (p.Thr2634=) c.8622G>C (p.Thr2874=) c.9120G>C (p.Thr3040=) c.6717G>C (p.Thr2239=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334732C>T | CA148092 | COL6A3 | c.1611-1184G>A c.8505G>A (p.Thr2835=) c.1250G>A c.9123G>A (p.Thr3041=) c.7299G>A (p.Thr2433=) c.7302G>A (p.Thr2434=) n.5565G>A n.55G>A c.8523G>A (p.Thr2841=) c.7902G>A (p.Thr2634=) c.8622G>A (p.Thr2874=) c.9120G>A (p.Thr3040=) c.6717G>A (p.Thr2239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334733G>A | CA2187355 | COL6A3 | c.1611-1185C>T c.8504C>T (p.Thr2835Met) c.1249C>T c.9122C>T (p.Thr3041Met) c.7298C>T (p.Thr2433Met) c.7301C>T (p.Thr2434Met) n.5564C>T n.54C>T c.8522C>T (p.Thr2841Met) c.7901C>T (p.Thr2634Met) c.8621C>T (p.Thr2874Met) c.9119C>T (p.Thr3040Met) c.6716C>T (p.Thr2239Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334733G>C | CA351188451 | COL6A3 | c.1611-1185C>G c.8504C>G (p.Thr2835Arg) c.1249C>G c.9122C>G (p.Thr3041Arg) c.7298C>G (p.Thr2433Arg) c.7301C>G (p.Thr2434Arg) n.5564C>G n.54C>G c.8522C>G (p.Thr2841Arg) c.7901C>G (p.Thr2634Arg) c.8621C>G (p.Thr2874Arg) c.9119C>G (p.Thr3040Arg) c.6716C>G (p.Thr2239Arg) | |
2 | g.237334733G= | CA1337606435 | COL6A3 | c.1611-1185C= c.8504C= (p.Thr2835=) c.1249C= c.9122C= (p.Thr3041=) c.7298C= (p.Thr2433=) c.7301C= (p.Thr2434=) n.5564C= n.54C= c.8522C= (p.Thr2841=) c.7901C= (p.Thr2634=) c.8621C= (p.Thr2874=) c.9119C= (p.Thr3040=) c.6716C= (p.Thr2239=) | |
2 | g.237334733G>T | CA351188447 | COL6A3 | c.1611-1185C>A c.8504C>A (p.Thr2835Lys) c.1249C>A c.9122C>A (p.Thr3041Lys) c.7298C>A (p.Thr2433Lys) c.7301C>A (p.Thr2434Lys) n.5564C>A n.54C>A c.8522C>A (p.Thr2841Lys) c.7901C>A (p.Thr2634Lys) c.8621C>A (p.Thr2874Lys) c.9119C>A (p.Thr3040Lys) c.6716C>A (p.Thr2239Lys) | gnomAD v4 |
2 | g.237334734T>A | CA351188453 | COL6A3 | c.1611-1186A>T c.8503A>T (p.Thr2835Ser) c.1248A>T c.9121A>T (p.Thr3041Ser) c.7297A>T (p.Thr2433Ser) c.7300A>T (p.Thr2434Ser) n.5563A>T n.53A>T c.8521A>T (p.Thr2841Ser) c.7900A>T (p.Thr2634Ser) c.8620A>T (p.Thr2874Ser) c.9118A>T (p.Thr3040Ser) c.6715A>T (p.Thr2239Ser) | |
2 | g.237334734T>C | CA351188456 | COL6A3 | c.1611-1186A>G c.8503A>G (p.Thr2835Ala) c.1248A>G c.9121A>G (p.Thr3041Ala) c.7297A>G (p.Thr2433Ala) c.7300A>G (p.Thr2434Ala) n.5563A>G n.53A>G c.8521A>G (p.Thr2841Ala) c.7900A>G (p.Thr2634Ala) c.8620A>G (p.Thr2874Ala) c.9118A>G (p.Thr3040Ala) c.6715A>G (p.Thr2239Ala) | |
2 | g.237334734T>G | CA351188460 | COL6A3 | c.1611-1186A>C c.8503A>C (p.Thr2835Pro) c.1248A>C c.9121A>C (p.Thr3041Pro) c.7297A>C (p.Thr2433Pro) c.7300A>C (p.Thr2434Pro) n.5563A>C n.53A>C c.8521A>C (p.Thr2841Pro) c.7900A>C (p.Thr2634Pro) c.8620A>C (p.Thr2874Pro) c.9118A>C (p.Thr3040Pro) c.6715A>C (p.Thr2239Pro) | |
2 | g.237334735G>A | CA431698869 | COL6A3 | c.1611-1187C>T c.8502C>T (p.Val2834=) c.1247C>T c.9120C>T (p.Val3040=) c.7296C>T (p.Val2432=) c.7299C>T (p.Val2433=) n.5562C>T n.52C>T c.8520C>T (p.Val2840=) c.7899C>T (p.Val2633=) c.8619C>T (p.Val2873=) c.9117C>T (p.Val3039=) c.6714C>T (p.Val2238=) | |
2 | g.237334735G>C | CA431698865 | COL6A3 | c.1611-1187C>G c.8502C>G (p.Val2834=) c.1247C>G c.9120C>G (p.Val3040=) c.7296C>G (p.Val2432=) c.7299C>G (p.Val2433=) n.5562C>G n.52C>G c.8520C>G (p.Val2840=) c.7899C>G (p.Val2633=) c.8619C>G (p.Val2873=) c.9117C>G (p.Val3039=) c.6714C>G (p.Val2238=) | |
2 | g.237334735G>T | CA431698867 | COL6A3 | c.1611-1187C>A c.8502C>A (p.Val2834=) c.1247C>A c.9120C>A (p.Val3040=) c.7296C>A (p.Val2432=) c.7299C>A (p.Val2433=) n.5562C>A n.52C>A c.8520C>A (p.Val2840=) c.7899C>A (p.Val2633=) c.8619C>A (p.Val2873=) c.9117C>A (p.Val3039=) c.6714C>A (p.Val2238=) | |
2 | g.237334736A>C | CA351188461 | COL6A3 | c.1611-1188T>G c.8501T>G (p.Val2834Gly) c.1246T>G c.9119T>G (p.Val3040Gly) c.7295T>G (p.Val2432Gly) c.7298T>G (p.Val2433Gly) n.5561T>G n.51T>G c.8519T>G (p.Val2840Gly) c.7898T>G (p.Val2633Gly) c.8618T>G (p.Val2873Gly) c.9116T>G (p.Val3039Gly) c.6713T>G (p.Val2238Gly) | |
2 | g.237334736A>G | CA351188463 | COL6A3 | c.1611-1188T>C c.8501T>C (p.Val2834Ala) c.1246T>C c.9119T>C (p.Val3040Ala) c.7295T>C (p.Val2432Ala) c.7298T>C (p.Val2433Ala) n.5561T>C n.51T>C c.8519T>C (p.Val2840Ala) c.7898T>C (p.Val2633Ala) c.8618T>C (p.Val2873Ala) c.9116T>C (p.Val3039Ala) c.6713T>C (p.Val2238Ala) | |
2 | g.237334736A>T | CA351188464 | COL6A3 | c.1611-1188T>A c.8501T>A (p.Val2834Asp) c.1246T>A c.9119T>A (p.Val3040Asp) c.7295T>A (p.Val2432Asp) c.7298T>A (p.Val2433Asp) n.5561T>A n.51T>A c.8519T>A (p.Val2840Asp) c.7898T>A (p.Val2633Asp) c.8618T>A (p.Val2873Asp) c.9116T>A (p.Val3039Asp) c.6713T>A (p.Val2238Asp) | |
2 | g.237334737C>A | CA351188466 | COL6A3 | c.1611-1189G>T c.8500G>T (p.Val2834Phe) c.1245G>T c.9118G>T (p.Val3040Phe) c.7294G>T (p.Val2432Phe) c.7297G>T (p.Val2433Phe) n.5560G>T n.50G>T c.8518G>T (p.Val2840Phe) c.7897G>T (p.Val2633Phe) c.8617G>T (p.Val2873Phe) c.9115G>T (p.Val3039Phe) c.6712G>T (p.Val2238Phe) | |
2 | g.237334737C>G | CA351188470 | COL6A3 | c.1611-1189G>C c.8500G>C (p.Val2834Leu) c.1245G>C c.9118G>C (p.Val3040Leu) c.7294G>C (p.Val2432Leu) c.7297G>C (p.Val2433Leu) n.5560G>C n.50G>C c.8518G>C (p.Val2840Leu) c.7897G>C (p.Val2633Leu) c.8617G>C (p.Val2873Leu) c.9115G>C (p.Val3039Leu) c.6712G>C (p.Val2238Leu) | |
2 | g.237334737C>T | CA351188468 | COL6A3 | c.1611-1189G>A c.8500G>A (p.Val2834Ile) c.1245G>A c.9118G>A (p.Val3040Ile) c.7294G>A (p.Val2432Ile) c.7297G>A (p.Val2433Ile) n.5560G>A n.50G>A c.8518G>A (p.Val2840Ile) c.7897G>A (p.Val2633Ile) c.8617G>A (p.Val2873Ile) c.9115G>A (p.Val3039Ile) c.6712G>A (p.Val2238Ile) | |
2 | g.237334738C>A | CA67829461 | COL6A3 | c.1611-1190G>T c.8499G>T (p.Thr2833=) c.1244G>T c.9117G>T (p.Thr3039=) c.7293G>T (p.Thr2431=) c.7296G>T (p.Thr2432=) n.5559G>T n.49G>T c.8517G>T (p.Thr2839=) c.7896G>T (p.Thr2632=) c.8616G>T (p.Thr2872=) c.9114G>T (p.Thr3038=) c.6711G>T (p.Thr2237=) | dbSNP |
2 | g.237334738C= | CA1337606436 | COL6A3 | c.1611-1190G= c.8499G= (p.Thr2833=) c.1244G= c.9117G= (p.Thr3039=) c.7293G= (p.Thr2431=) c.7296G= (p.Thr2432=) n.5559G= n.49G= c.8517G= (p.Thr2839=) c.7896G= (p.Thr2632=) c.8616G= (p.Thr2872=) c.9114G= (p.Thr3038=) c.6711G= (p.Thr2237=) | |
2 | g.237334738C>G | CA431698884 | COL6A3 | c.1611-1190G>C c.8499G>C (p.Thr2833=) c.1244G>C c.9117G>C (p.Thr3039=) c.7293G>C (p.Thr2431=) c.7296G>C (p.Thr2432=) n.5559G>C n.49G>C c.8517G>C (p.Thr2839=) c.7896G>C (p.Thr2632=) c.8616G>C (p.Thr2872=) c.9114G>C (p.Thr3038=) c.6711G>C (p.Thr2237=) | |
2 | g.237334738C>T | CA2187356 | COL6A3 | c.1611-1190G>A c.8499G>A (p.Thr2833=) c.1244G>A c.9117G>A (p.Thr3039=) c.7293G>A (p.Thr2431=) c.7296G>A (p.Thr2432=) n.5559G>A n.49G>A c.8517G>A (p.Thr2839=) c.7896G>A (p.Thr2632=) c.8616G>A (p.Thr2872=) c.9114G>A (p.Thr3038=) c.6711G>A (p.Thr2237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334739G>A | CA2187357 | COL6A3 | c.1611-1191C>T c.8498C>T (p.Thr2833Met) c.1243C>T c.9116C>T (p.Thr3039Met) c.7292C>T (p.Thr2431Met) c.7295C>T (p.Thr2432Met) n.5558C>T n.48C>T c.8516C>T (p.Thr2839Met) c.7895C>T (p.Thr2632Met) c.8615C>T (p.Thr2872Met) c.9113C>T (p.Thr3038Met) c.6710C>T (p.Thr2237Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334739G>C | CA351188474 | COL6A3 | c.1611-1191C>G c.8498C>G (p.Thr2833Arg) c.1243C>G c.9116C>G (p.Thr3039Arg) c.7292C>G (p.Thr2431Arg) c.7295C>G (p.Thr2432Arg) n.5558C>G n.48C>G c.8516C>G (p.Thr2839Arg) c.7895C>G (p.Thr2632Arg) c.8615C>G (p.Thr2872Arg) c.9113C>G (p.Thr3038Arg) c.6710C>G (p.Thr2237Arg) | |
2 | g.237334739G= | CA1337606437 | COL6A3 | c.1611-1191C= c.8498C= (p.Thr2833=) c.1243C= c.9116C= (p.Thr3039=) c.7292C= (p.Thr2431=) c.7295C= (p.Thr2432=) n.5558C= n.48C= c.8516C= (p.Thr2839=) c.7895C= (p.Thr2632=) c.8615C= (p.Thr2872=) c.9113C= (p.Thr3038=) c.6710C= (p.Thr2237=) | |
2 | g.237334739G>T | CA351188475 | COL6A3 | c.1611-1191C>A c.8498C>A (p.Thr2833Lys) c.1243C>A c.9116C>A (p.Thr3039Lys) c.7292C>A (p.Thr2431Lys) c.7295C>A (p.Thr2432Lys) n.5558C>A n.48C>A c.8516C>A (p.Thr2839Lys) c.7895C>A (p.Thr2632Lys) c.8615C>A (p.Thr2872Lys) c.9113C>A (p.Thr3038Lys) c.6710C>A (p.Thr2237Lys) | COSMIC |
2 | g.237334740T>A | CA351188478 | COL6A3 | c.1611-1192A>T c.8497A>T (p.Thr2833Ser) c.1242A>T c.9115A>T (p.Thr3039Ser) c.7291A>T (p.Thr2431Ser) c.7294A>T (p.Thr2432Ser) n.5557A>T n.47A>T c.8515A>T (p.Thr2839Ser) c.7894A>T (p.Thr2632Ser) c.8614A>T (p.Thr2872Ser) c.9112A>T (p.Thr3038Ser) c.6709A>T (p.Thr2237Ser) | |
2 | g.237334740T>C | CA351188482 | COL6A3 | c.1611-1192A>G c.8497A>G (p.Thr2833Ala) c.1242A>G c.9115A>G (p.Thr3039Ala) c.7291A>G (p.Thr2431Ala) c.7294A>G (p.Thr2432Ala) n.5557A>G n.47A>G c.8515A>G (p.Thr2839Ala) c.7894A>G (p.Thr2632Ala) c.8614A>G (p.Thr2872Ala) c.9112A>G (p.Thr3038Ala) c.6709A>G (p.Thr2237Ala) | |
2 | g.237334740T>G | CA351188480 | COL6A3 | c.1611-1192A>C c.8497A>C (p.Thr2833Pro) c.1242A>C c.9115A>C (p.Thr3039Pro) c.7291A>C (p.Thr2431Pro) c.7294A>C (p.Thr2432Pro) n.5557A>C n.47A>C c.8515A>C (p.Thr2839Pro) c.7894A>C (p.Thr2632Pro) c.8614A>C (p.Thr2872Pro) c.9112A>C (p.Thr3038Pro) c.6709A>C (p.Thr2237Pro) | |
2 | g.237334741G>A | CA431698931 | COL6A3 | c.1611-1193C>T c.8496C>T (p.Leu2832=) c.1241C>T c.9114C>T (p.Leu3038=) c.7290C>T (p.Leu2430=) c.7293C>T (p.Leu2431=) n.5556C>T n.46C>T c.8514C>T (p.Leu2838=) c.7893C>T (p.Leu2631=) c.8613C>T (p.Leu2871=) c.9111C>T (p.Leu3037=) c.6708C>T (p.Leu2236=) | |
2 | g.237334741G>C | CA431698934 | COL6A3 | c.1611-1193C>G c.8496C>G (p.Leu2832=) c.1241C>G c.9114C>G (p.Leu3038=) c.7290C>G (p.Leu2430=) c.7293C>G (p.Leu2431=) n.5556C>G n.46C>G c.8514C>G (p.Leu2838=) c.7893C>G (p.Leu2631=) c.8613C>G (p.Leu2871=) c.9111C>G (p.Leu3037=) c.6708C>G (p.Leu2236=) | |
2 | g.237334741G>T | CA431698938 | COL6A3 | c.1611-1193C>A c.8496C>A (p.Leu2832=) c.1241C>A c.9114C>A (p.Leu3038=) c.7290C>A (p.Leu2430=) c.7293C>A (p.Leu2431=) n.5556C>A n.46C>A c.8514C>A (p.Leu2838=) c.7893C>A (p.Leu2631=) c.8613C>A (p.Leu2871=) c.9111C>A (p.Leu3037=) c.6708C>A (p.Leu2236=) | |
2 | g.237334742A>C | CA351188485 | COL6A3 | c.1611-1194T>G c.8495T>G (p.Leu2832Arg) c.1240T>G c.9113T>G (p.Leu3038Arg) c.7289T>G (p.Leu2430Arg) c.7292T>G (p.Leu2431Arg) n.5555T>G n.45T>G c.8513T>G (p.Leu2838Arg) c.7892T>G (p.Leu2631Arg) c.8612T>G (p.Leu2871Arg) c.9110T>G (p.Leu3037Arg) c.6707T>G (p.Leu2236Arg) | |
2 | g.237334742A>G | CA351188489 | COL6A3 | c.1611-1194T>C c.8495T>C (p.Leu2832Pro) c.1240T>C c.9113T>C (p.Leu3038Pro) c.7289T>C (p.Leu2430Pro) c.7292T>C (p.Leu2431Pro) n.5555T>C n.45T>C c.8513T>C (p.Leu2838Pro) c.7892T>C (p.Leu2631Pro) c.8612T>C (p.Leu2871Pro) c.9110T>C (p.Leu3037Pro) c.6707T>C (p.Leu2236Pro) | |
2 | g.237334742A>T | CA351188487 | COL6A3 | c.1611-1194T>A c.8495T>A (p.Leu2832His) c.1240T>A c.9113T>A (p.Leu3038His) c.7289T>A (p.Leu2430His) c.7292T>A (p.Leu2431His) n.5555T>A n.45T>A c.8513T>A (p.Leu2838His) c.7892T>A (p.Leu2631His) c.8612T>A (p.Leu2871His) c.9110T>A (p.Leu3037His) c.6707T>A (p.Leu2236His) | |
2 | g.237334743G>A | CA351188490 | COL6A3 | c.1611-1195C>T c.8494C>T (p.Leu2832Phe) c.1239C>T c.9112C>T (p.Leu3038Phe) c.7288C>T (p.Leu2430Phe) c.7291C>T (p.Leu2431Phe) n.5554C>T n.44C>T c.8512C>T (p.Leu2838Phe) c.7891C>T (p.Leu2631Phe) c.8611C>T (p.Leu2871Phe) c.9109C>T (p.Leu3037Phe) c.6706C>T (p.Leu2236Phe) | |
2 | g.237334743G>C | CA351188493 | COL6A3 | c.1611-1195C>G c.8494C>G (p.Leu2832Val) c.1239C>G c.9112C>G (p.Leu3038Val) c.7288C>G (p.Leu2430Val) c.7291C>G (p.Leu2431Val) n.5554C>G n.44C>G c.8512C>G (p.Leu2838Val) c.7891C>G (p.Leu2631Val) c.8611C>G (p.Leu2871Val) c.9109C>G (p.Leu3037Val) c.6706C>G (p.Leu2236Val) | |
2 | g.237334743G>T | CA351188491 | COL6A3 | c.1611-1195C>A c.8494C>A (p.Leu2832Ile) c.1239C>A c.9112C>A (p.Leu3038Ile) c.7288C>A (p.Leu2430Ile) c.7291C>A (p.Leu2431Ile) n.5554C>A n.44C>A c.8512C>A (p.Leu2838Ile) c.7891C>A (p.Leu2631Ile) c.8611C>A (p.Leu2871Ile) c.9109C>A (p.Leu3037Ile) c.6706C>A (p.Leu2236Ile) | |
2 | g.237334744G>A | CA67829466 | COL6A3 | c.1611-1196C>T c.8493C>T (p.Asn2831=) c.1238C>T c.9111C>T (p.Asn3037=) c.7287C>T (p.Asn2429=) c.7290C>T (p.Asn2430=) n.5553C>T n.43C>T c.8511C>T (p.Asn2837=) c.7890C>T (p.Asn2630=) c.8610C>T (p.Asn2870=) c.9108C>T (p.Asn3036=) c.6705C>T (p.Asn2235=) | dbSNP |
2 | g.237334744G>C | CA351188496 | COL6A3 | c.1611-1196C>G c.8493C>G (p.Asn2831Lys) c.1238C>G c.9111C>G (p.Asn3037Lys) c.7287C>G (p.Asn2429Lys) c.7290C>G (p.Asn2430Lys) n.5553C>G n.43C>G c.8511C>G (p.Asn2837Lys) c.7890C>G (p.Asn2630Lys) c.8610C>G (p.Asn2870Lys) c.9108C>G (p.Asn3036Lys) c.6705C>G (p.Asn2235Lys) | |
2 | g.237334744G= | CA1337606438 | COL6A3 | c.1611-1196C= c.8493C= (p.Asn2831=) c.1238C= c.9111C= (p.Asn3037=) c.7287C= (p.Asn2429=) c.7290C= (p.Asn2430=) n.5553C= n.43C= c.8511C= (p.Asn2837=) c.7890C= (p.Asn2630=) c.8610C= (p.Asn2870=) c.9108C= (p.Asn3036=) c.6705C= (p.Asn2235=) | |
2 | g.237334744G>T | CA2187358 | COL6A3 | c.1611-1196C>A c.8493C>A (p.Asn2831Lys) c.1238C>A c.9111C>A (p.Asn3037Lys) c.7287C>A (p.Asn2429Lys) c.7290C>A (p.Asn2430Lys) n.5553C>A n.43C>A c.8511C>A (p.Asn2837Lys) c.7890C>A (p.Asn2630Lys) c.8610C>A (p.Asn2870Lys) c.9108C>A (p.Asn3036Lys) c.6705C>A (p.Asn2235Lys) | dbSNP ExAC gnomAD v2 |
2 | g.237334745T>A | CA351188498 | COL6A3 | c.1611-1197A>T c.8492A>T (p.Asn2831Ile) c.1237A>T c.9110A>T (p.Asn3037Ile) c.7286A>T (p.Asn2429Ile) c.7289A>T (p.Asn2430Ile) n.5552A>T n.42A>T c.8510A>T (p.Asn2837Ile) c.7889A>T (p.Asn2630Ile) c.8609A>T (p.Asn2870Ile) c.9107A>T (p.Asn3036Ile) c.6704A>T (p.Asn2235Ile) | |
2 | g.237334745T>C | CA351188500 | COL6A3 | c.1611-1197A>G c.8492A>G (p.Asn2831Ser) c.1237A>G c.9110A>G (p.Asn3037Ser) c.7286A>G (p.Asn2429Ser) c.7289A>G (p.Asn2430Ser) n.5552A>G n.42A>G c.8510A>G (p.Asn2837Ser) c.7889A>G (p.Asn2630Ser) c.8609A>G (p.Asn2870Ser) c.9107A>G (p.Asn3036Ser) c.6704A>G (p.Asn2235Ser) | |
2 | g.237334745T>G | CA351188501 | COL6A3 | c.1611-1197A>C c.8492A>C (p.Asn2831Thr) c.1237A>C c.9110A>C (p.Asn3037Thr) c.7286A>C (p.Asn2429Thr) c.7289A>C (p.Asn2430Thr) n.5552A>C n.42A>C c.8510A>C (p.Asn2837Thr) c.7889A>C (p.Asn2630Thr) c.8609A>C (p.Asn2870Thr) c.9107A>C (p.Asn3036Thr) c.6704A>C (p.Asn2235Thr) | |
2 | g.237334746T>A | CA351188503 | COL6A3 | c.1611-1198A>T c.8491A>T (p.Asn2831Tyr) c.1236A>T c.9109A>T (p.Asn3037Tyr) c.7285A>T (p.Asn2429Tyr) c.7288A>T (p.Asn2430Tyr) n.5551A>T n.41A>T c.8509A>T (p.Asn2837Tyr) c.7888A>T (p.Asn2630Tyr) c.8608A>T (p.Asn2870Tyr) c.9106A>T (p.Asn3036Tyr) c.6703A>T (p.Asn2235Tyr) | |
2 | g.237334746T>C | CA2187359 | COL6A3 | c.1611-1198A>G c.8491A>G (p.Asn2831Asp) c.1236A>G c.9109A>G (p.Asn3037Asp) c.7285A>G (p.Asn2429Asp) c.7288A>G (p.Asn2430Asp) n.5551A>G n.41A>G c.8509A>G (p.Asn2837Asp) c.7888A>G (p.Asn2630Asp) c.8608A>G (p.Asn2870Asp) c.9106A>G (p.Asn3036Asp) c.6703A>G (p.Asn2235Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334746T>G | CA351188506 | COL6A3 | c.1611-1198A>C c.8491A>C (p.Asn2831His) c.1236A>C c.9109A>C (p.Asn3037His) c.7285A>C (p.Asn2429His) c.7288A>C (p.Asn2430His) n.5551A>C n.41A>C c.8509A>C (p.Asn2837His) c.7888A>C (p.Asn2630His) c.8608A>C (p.Asn2870His) c.9106A>C (p.Asn3036His) c.6703A>C (p.Asn2235His) | |
2 | g.237334746T= | CA1337606439 | COL6A3 | c.1611-1198A= c.8491A= (p.Asn2831=) c.1236A= c.9109A= (p.Asn3037=) c.7285A= (p.Asn2429=) c.7288A= (p.Asn2430=) n.5551A= n.41A= c.8509A= (p.Asn2837=) c.7888A= (p.Asn2630=) c.8608A= (p.Asn2870=) c.9106A= (p.Asn3036=) c.6703A= (p.Asn2235=) | |
2 | g.237334747C>A | CA351188509 | COL6A3 | c.1611-1199G>T c.8490G>T (p.Gln2830His) c.1235G>T c.9108G>T (p.Gln3036His) c.7284G>T (p.Gln2428His) c.7287G>T (p.Gln2429His) n.5550G>T n.40G>T c.8508G>T (p.Gln2836His) c.7887G>T (p.Gln2629His) c.8607G>T (p.Gln2869His) c.9105G>T (p.Gln3035His) c.6702G>T (p.Gln2234His) | |
2 | g.237334747C= | CA1337606440 | COL6A3 | c.1611-1199G= c.8490G= (p.Gln2830=) c.1235G= c.9108G= (p.Gln3036=) c.7284G= (p.Gln2428=) c.7287G= (p.Gln2429=) n.5550G= n.40G= c.8508G= (p.Gln2836=) c.7887G= (p.Gln2629=) c.8607G= (p.Gln2869=) c.9105G= (p.Gln3035=) c.6702G= (p.Gln2234=) | |
2 | g.237334747C>G | CA67829472 | COL6A3 | c.1611-1199G>C c.8490G>C (p.Gln2830His) c.1235G>C c.9108G>C (p.Gln3036His) c.7284G>C (p.Gln2428His) c.7287G>C (p.Gln2429His) n.5550G>C n.40G>C c.8508G>C (p.Gln2836His) c.7887G>C (p.Gln2629His) c.8607G>C (p.Gln2869His) c.9105G>C (p.Gln3035His) c.6702G>C (p.Gln2234His) | dbSNP gnomAD v4 |
2 | g.237334747C>T | CA431699003 | COL6A3 | c.1611-1199G>A c.8490G>A (p.Gln2830=) c.1235G>A c.9108G>A (p.Gln3036=) c.7284G>A (p.Gln2428=) c.7287G>A (p.Gln2429=) n.5550G>A n.40G>A c.8508G>A (p.Gln2836=) c.7887G>A (p.Gln2629=) c.8607G>A (p.Gln2869=) c.9105G>A (p.Gln3035=) c.6702G>A (p.Gln2234=) | |
2 | g.237334748T>A | CA351188516 | COL6A3 | c.1611-1200A>T c.8489A>T (p.Gln2830Leu) c.1234A>T c.9107A>T (p.Gln3036Leu) c.7283A>T (p.Gln2428Leu) c.7286A>T (p.Gln2429Leu) n.5549A>T n.39A>T c.8507A>T (p.Gln2836Leu) c.7886A>T (p.Gln2629Leu) c.8606A>T (p.Gln2869Leu) c.9104A>T (p.Gln3035Leu) c.6701A>T (p.Gln2234Leu) | |
2 | g.237334748T>C | CA2187360 | COL6A3 | c.1611-1200A>G c.8489A>G (p.Gln2830Arg) c.1234A>G c.9107A>G (p.Gln3036Arg) c.7283A>G (p.Gln2428Arg) c.7286A>G (p.Gln2429Arg) n.5549A>G n.39A>G c.8507A>G (p.Gln2836Arg) c.7886A>G (p.Gln2629Arg) c.8606A>G (p.Gln2869Arg) c.9104A>G (p.Gln3035Arg) c.6701A>G (p.Gln2234Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334748T>G | CA351188512 | COL6A3 | c.1611-1200A>C c.8489A>C (p.Gln2830Pro) c.1234A>C c.9107A>C (p.Gln3036Pro) c.7283A>C (p.Gln2428Pro) c.7286A>C (p.Gln2429Pro) n.5549A>C n.39A>C c.8507A>C (p.Gln2836Pro) c.7886A>C (p.Gln2629Pro) c.8606A>C (p.Gln2869Pro) c.9104A>C (p.Gln3035Pro) c.6701A>C (p.Gln2234Pro) | |
2 | g.237334748T= | CA1337606441 | COL6A3 | c.1611-1200A= c.8489A= (p.Gln2830=) c.1234A= c.9107A= (p.Gln3036=) c.7283A= (p.Gln2428=) c.7286A= (p.Gln2429=) n.5549A= n.39A= c.8507A= (p.Gln2836=) c.7886A= (p.Gln2629=) c.8606A= (p.Gln2869=) c.9104A= (p.Gln3035=) c.6701A= (p.Gln2234=) | |
2 | g.237334749G>A | CA351188517 | COL6A3 | c.1611-1201C>T c.8488C>T (p.Gln2830Ter) c.1233C>T c.9106C>T (p.Gln3036Ter) c.7282C>T (p.Gln2428Ter) c.7285C>T (p.Gln2429Ter) n.5548C>T n.38C>T c.8506C>T (p.Gln2836Ter) c.7885C>T (p.Gln2629Ter) c.8605C>T (p.Gln2869Ter) c.9103C>T (p.Gln3035Ter) c.6700C>T (p.Gln2234Ter) | |
2 | g.237334749G>C | CA351188518 | COL6A3 | c.1611-1201C>G c.8488C>G (p.Gln2830Glu) c.1233C>G c.9106C>G (p.Gln3036Glu) c.7282C>G (p.Gln2428Glu) c.7285C>G (p.Gln2429Glu) n.5548C>G n.38C>G c.8506C>G (p.Gln2836Glu) c.7885C>G (p.Gln2629Glu) c.8605C>G (p.Gln2869Glu) c.9103C>G (p.Gln3035Glu) c.6700C>G (p.Gln2234Glu) | gnomAD v4 |
2 | g.237334749G>T | CA351188519 | COL6A3 | c.1611-1201C>A c.8488C>A (p.Gln2830Lys) c.1233C>A c.9106C>A (p.Gln3036Lys) c.7282C>A (p.Gln2428Lys) c.7285C>A (p.Gln2429Lys) n.5548C>A n.38C>A c.8506C>A (p.Gln2836Lys) c.7885C>A (p.Gln2629Lys) c.8605C>A (p.Gln2869Lys) c.9103C>A (p.Gln3035Lys) c.6700C>A (p.Gln2234Lys) | |
2 | g.237334750C>A | CA351188520 | COL6A3 | c.1611-1202G>T c.8487G>T (p.Lys2829Asn) c.1232G>T c.9105G>T (p.Lys3035Asn) c.7281G>T (p.Lys2427Asn) c.7284G>T (p.Lys2428Asn) n.5547G>T n.37G>T c.8505G>T (p.Lys2835Asn) c.7884G>T (p.Lys2628Asn) c.8604G>T (p.Lys2868Asn) c.9102G>T (p.Lys3034Asn) c.6699G>T (p.Lys2233Asn) | |
2 | g.237334750C>G | CA351188522 | COL6A3 | c.1611-1202G>C c.8487G>C (p.Lys2829Asn) c.1232G>C c.9105G>C (p.Lys3035Asn) c.7281G>C (p.Lys2427Asn) c.7284G>C (p.Lys2428Asn) n.5547G>C n.37G>C c.8505G>C (p.Lys2835Asn) c.7884G>C (p.Lys2628Asn) c.8604G>C (p.Lys2868Asn) c.9102G>C (p.Lys3034Asn) c.6699G>C (p.Lys2233Asn) | |
2 | g.237334750C>T | CA431699036 | COL6A3 | c.1611-1202G>A c.8487G>A (p.Lys2829=) c.1232G>A c.9105G>A (p.Lys3035=) c.7281G>A (p.Lys2427=) c.7284G>A (p.Lys2428=) n.5547G>A n.37G>A c.8505G>A (p.Lys2835=) c.7884G>A (p.Lys2628=) c.8604G>A (p.Lys2868=) c.9102G>A (p.Lys3034=) c.6699G>A (p.Lys2233=) | |
2 | g.237334751T>A | CA351188524 | COL6A3 | c.1611-1203A>T c.8486A>T (p.Lys2829Met) c.1231A>T c.9104A>T (p.Lys3035Met) c.7280A>T (p.Lys2427Met) c.7283A>T (p.Lys2428Met) n.5546A>T n.36A>T c.8504A>T (p.Lys2835Met) c.7883A>T (p.Lys2628Met) c.8603A>T (p.Lys2868Met) c.9101A>T (p.Lys3034Met) c.6698A>T (p.Lys2233Met) | |
2 | g.237334751T>C | CA351188525 | COL6A3 | c.1611-1203A>G c.8486A>G (p.Lys2829Arg) c.1231A>G c.9104A>G (p.Lys3035Arg) c.7280A>G (p.Lys2427Arg) c.7283A>G (p.Lys2428Arg) n.5546A>G n.36A>G c.8504A>G (p.Lys2835Arg) c.7883A>G (p.Lys2628Arg) c.8603A>G (p.Lys2868Arg) c.9101A>G (p.Lys3034Arg) c.6698A>G (p.Lys2233Arg) | gnomAD v4 |
2 | g.237334751T>G | CA351188528 | COL6A3 | c.1611-1203A>C c.8486A>C (p.Lys2829Thr) c.1231A>C c.9104A>C (p.Lys3035Thr) c.7280A>C (p.Lys2427Thr) c.7283A>C (p.Lys2428Thr) n.5546A>C n.36A>C c.8504A>C (p.Lys2835Thr) c.7883A>C (p.Lys2628Thr) c.8603A>C (p.Lys2868Thr) c.9101A>C (p.Lys3034Thr) c.6698A>C (p.Lys2233Thr) | |
2 | g.237334752T>A | CA351188531 | COL6A3 | c.1611-1204A>T c.8485A>T (p.Lys2829Ter) c.1230A>T c.9103A>T (p.Lys3035Ter) c.7279A>T (p.Lys2427Ter) c.7282A>T (p.Lys2428Ter) n.5545A>T n.35A>T c.8503A>T (p.Lys2835Ter) c.7882A>T (p.Lys2628Ter) c.8602A>T (p.Lys2868Ter) c.9100A>T (p.Lys3034Ter) c.6697A>T (p.Lys2233Ter) | |
2 | g.237334752T>C | CA351188535 | COL6A3 | c.1611-1204A>G c.8485A>G (p.Lys2829Glu) c.1230A>G c.9103A>G (p.Lys3035Glu) c.7279A>G (p.Lys2427Glu) c.7282A>G (p.Lys2428Glu) n.5545A>G n.35A>G c.8503A>G (p.Lys2835Glu) c.7882A>G (p.Lys2628Glu) c.8602A>G (p.Lys2868Glu) c.9100A>G (p.Lys3034Glu) c.6697A>G (p.Lys2233Glu) | |
2 | g.237334752T>G | CA351188537 | COL6A3 | c.1611-1204A>C c.8485A>C (p.Lys2829Gln) c.1230A>C c.9103A>C (p.Lys3035Gln) c.7279A>C (p.Lys2427Gln) c.7282A>C (p.Lys2428Gln) n.5545A>C n.35A>C c.8503A>C (p.Lys2835Gln) c.7882A>C (p.Lys2628Gln) c.8602A>C (p.Lys2868Gln) c.9100A>C (p.Lys3034Gln) c.6697A>C (p.Lys2233Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334752T= | CA1337606442 | COL6A3 | c.1611-1204A= c.8485A= (p.Lys2829=) c.1230A= c.9103A= (p.Lys3035=) c.7279A= (p.Lys2427=) c.7282A= (p.Lys2428=) n.5545A= n.35A= c.8503A= (p.Lys2835=) c.7882A= (p.Lys2628=) c.8602A= (p.Lys2868=) c.9100A= (p.Lys3034=) c.6697A= (p.Lys2233=) | |
2 | g.237334753C>A | CA431699075 | COL6A3 | c.1611-1205G>T c.8484G>T (p.Leu2828=) c.1229G>T c.9102G>T (p.Leu3034=) c.7278G>T (p.Leu2426=) c.7281G>T (p.Leu2427=) n.5544G>T n.34G>T c.8502G>T (p.Leu2834=) c.7881G>T (p.Leu2627=) c.8601G>T (p.Leu2867=) c.9099G>T (p.Leu3033=) c.6696G>T (p.Leu2232=) | |
2 | g.237334753C>G | CA431699078 | COL6A3 | c.1611-1205G>C c.8484G>C (p.Leu2828=) c.1229G>C c.9102G>C (p.Leu3034=) c.7278G>C (p.Leu2426=) c.7281G>C (p.Leu2427=) n.5544G>C n.34G>C c.8502G>C (p.Leu2834=) c.7881G>C (p.Leu2627=) c.8601G>C (p.Leu2867=) c.9099G>C (p.Leu3033=) c.6696G>C (p.Leu2232=) | |
2 | g.237334753C>T | CA431699079 | COL6A3 | c.1611-1205G>A c.8484G>A (p.Leu2828=) c.1229G>A c.9102G>A (p.Leu3034=) c.7278G>A (p.Leu2426=) c.7281G>A (p.Leu2427=) n.5544G>A n.34G>A c.8502G>A (p.Leu2834=) c.7881G>A (p.Leu2627=) c.8601G>A (p.Leu2867=) c.9099G>A (p.Leu3033=) c.6696G>A (p.Leu2232=) | |
2 | g.237334754A>C | CA351188543 | COL6A3 | c.1611-1206T>G c.8483T>G (p.Leu2828Arg) c.1228T>G c.9101T>G (p.Leu3034Arg) c.7277T>G (p.Leu2426Arg) c.7280T>G (p.Leu2427Arg) n.5543T>G n.33T>G c.8501T>G (p.Leu2834Arg) c.7880T>G (p.Leu2627Arg) c.8600T>G (p.Leu2867Arg) c.9098T>G (p.Leu3033Arg) c.6695T>G (p.Leu2232Arg) | |
2 | g.237334754A>G | CA351188540 | COL6A3 | c.1611-1206T>C c.8483T>C (p.Leu2828Pro) c.1228T>C c.9101T>C (p.Leu3034Pro) c.7277T>C (p.Leu2426Pro) c.7280T>C (p.Leu2427Pro) n.5543T>C n.33T>C c.8501T>C (p.Leu2834Pro) c.7880T>C (p.Leu2627Pro) c.8600T>C (p.Leu2867Pro) c.9098T>C (p.Leu3033Pro) c.6695T>C (p.Leu2232Pro) | |
2 | g.237334754A>T | CA351188538 | COL6A3 | c.1611-1206T>A c.8483T>A (p.Leu2828Gln) c.1228T>A c.9101T>A (p.Leu3034Gln) c.7277T>A (p.Leu2426Gln) c.7280T>A (p.Leu2427Gln) n.5543T>A n.33T>A c.8501T>A (p.Leu2834Gln) c.7880T>A (p.Leu2627Gln) c.8600T>A (p.Leu2867Gln) c.9098T>A (p.Leu3033Gln) c.6695T>A (p.Leu2232Gln) | |
2 | g.237334755G>A | CA431699095 | COL6A3 | c.1611-1207C>T c.8482C>T (p.Leu2828=) c.1227C>T c.9100C>T (p.Leu3034=) c.7276C>T (p.Leu2426=) c.7279C>T (p.Leu2427=) n.5542C>T n.32C>T c.8500C>T (p.Leu2834=) c.7879C>T (p.Leu2627=) c.8599C>T (p.Leu2867=) c.9097C>T (p.Leu3033=) c.6694C>T (p.Leu2232=) | |
2 | g.237334755G>C | CA351188554 | COL6A3 | c.1611-1207C>G c.8482C>G (p.Leu2828Val) c.1227C>G c.9100C>G (p.Leu3034Val) c.7276C>G (p.Leu2426Val) c.7279C>G (p.Leu2427Val) n.5542C>G n.32C>G c.8500C>G (p.Leu2834Val) c.7879C>G (p.Leu2627Val) c.8599C>G (p.Leu2867Val) c.9097C>G (p.Leu3033Val) c.6694C>G (p.Leu2232Val) | |
2 | g.237334755G>T | CA351188557 | COL6A3 | c.1611-1207C>A c.8482C>A (p.Leu2828Met) c.1227C>A c.9100C>A (p.Leu3034Met) c.7276C>A (p.Leu2426Met) c.7279C>A (p.Leu2427Met) n.5542C>A n.32C>A c.8500C>A (p.Leu2834Met) c.7879C>A (p.Leu2627Met) c.8599C>A (p.Leu2867Met) c.9097C>A (p.Leu3033Met) c.6694C>A (p.Leu2232Met) | |
2 | g.237334756A>C | CA431699100 | COL6A3 | c.1611-1208T>G c.8481T>G (p.Val2827=) c.1226T>G c.9099T>G (p.Val3033=) c.7275T>G (p.Val2425=) c.7278T>G (p.Val2426=) n.5541T>G n.31T>G c.8499T>G (p.Val2833=) c.7878T>G (p.Val2626=) c.8598T>G (p.Val2866=) c.9096T>G (p.Val3032=) c.6693T>G (p.Val2231=) | gnomAD v4 |
2 | g.237334756A>G | CA431699107 | COL6A3 | c.1611-1208T>C c.8481T>C (p.Val2827=) c.1226T>C c.9099T>C (p.Val3033=) c.7275T>C (p.Val2425=) c.7278T>C (p.Val2426=) n.5541T>C n.31T>C c.8499T>C (p.Val2833=) c.7878T>C (p.Val2626=) c.8598T>C (p.Val2866=) c.9096T>C (p.Val3032=) c.6693T>C (p.Val2231=) | gnomAD v4 |
2 | g.237334756A>T | CA431699104 | COL6A3 | c.1611-1208T>A c.8481T>A (p.Val2827=) c.1226T>A c.9099T>A (p.Val3033=) c.7275T>A (p.Val2425=) c.7278T>A (p.Val2426=) n.5541T>A n.31T>A c.8499T>A (p.Val2833=) c.7878T>A (p.Val2626=) c.8598T>A (p.Val2866=) c.9096T>A (p.Val3032=) c.6693T>A (p.Val2231=) | |
2 | g.237334757A>C | CA351188572 | COL6A3 | c.1611-1209T>G c.8480T>G (p.Val2827Gly) c.1225T>G c.9098T>G (p.Val3033Gly) c.7274T>G (p.Val2425Gly) c.7277T>G (p.Val2426Gly) n.5540T>G n.30T>G c.8498T>G (p.Val2833Gly) c.7877T>G (p.Val2626Gly) c.8597T>G (p.Val2866Gly) c.9095T>G (p.Val3032Gly) c.6692T>G (p.Val2231Gly) | |
2 | g.237334757A>G | CA351188575 | COL6A3 | c.1611-1209T>C c.8480T>C (p.Val2827Ala) c.1225T>C c.9098T>C (p.Val3033Ala) c.7274T>C (p.Val2425Ala) c.7277T>C (p.Val2426Ala) n.5540T>C n.30T>C c.8498T>C (p.Val2833Ala) c.7877T>C (p.Val2626Ala) c.8597T>C (p.Val2866Ala) c.9095T>C (p.Val3032Ala) c.6692T>C (p.Val2231Ala) | |
2 | g.237334757A>T | CA351188583 | COL6A3 | c.1611-1209T>A c.8480T>A (p.Val2827Asp) c.1225T>A c.9098T>A (p.Val3033Asp) c.7274T>A (p.Val2425Asp) c.7277T>A (p.Val2426Asp) n.5540T>A n.30T>A c.8498T>A (p.Val2833Asp) c.7877T>A (p.Val2626Asp) c.8597T>A (p.Val2866Asp) c.9095T>A (p.Val3032Asp) c.6692T>A (p.Val2231Asp) | |
2 | g.237334758C>A | CA351188589 | COL6A3 | c.1611-1210G>T c.8479G>T (p.Val2827Phe) c.1224G>T c.9097G>T (p.Val3033Phe) c.7273G>T (p.Val2425Phe) c.7276G>T (p.Val2426Phe) n.5539G>T n.29G>T c.8497G>T (p.Val2833Phe) c.7876G>T (p.Val2626Phe) c.8596G>T (p.Val2866Phe) c.9094G>T (p.Val3032Phe) c.6691G>T (p.Val2231Phe) | |
2 | g.237334758C>G | CA351188594 | COL6A3 | c.1611-1210G>C c.8479G>C (p.Val2827Leu) c.1224G>C c.9097G>C (p.Val3033Leu) c.7273G>C (p.Val2425Leu) c.7276G>C (p.Val2426Leu) n.5539G>C n.29G>C c.8497G>C (p.Val2833Leu) c.7876G>C (p.Val2626Leu) c.8596G>C (p.Val2866Leu) c.9094G>C (p.Val3032Leu) c.6691G>C (p.Val2231Leu) | |
2 | g.237334758C>T | CA351188598 | COL6A3 | c.1611-1210G>A c.8479G>A (p.Val2827Ile) c.1224G>A c.9097G>A (p.Val3033Ile) c.7273G>A (p.Val2425Ile) c.7276G>A (p.Val2426Ile) n.5539G>A n.29G>A c.8497G>A (p.Val2833Ile) c.7876G>A (p.Val2626Ile) c.8596G>A (p.Val2866Ile) c.9094G>A (p.Val3032Ile) c.6691G>A (p.Val2231Ile) | |
2 | g.237334759C>A | CA2187361 | COL6A3 | c.1611-1211G>T c.8478G>T (p.Leu2826=) c.1223G>T c.9096G>T (p.Leu3032=) c.7272G>T (p.Leu2424=) c.7275G>T (p.Leu2425=) n.5538G>T n.28G>T c.8496G>T (p.Leu2832=) c.7875G>T (p.Leu2625=) c.8595G>T (p.Leu2865=) c.9093G>T (p.Leu3031=) c.6690G>T (p.Leu2230=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.237334759C= | CA1337606443 | COL6A3 | c.1611-1211G= c.8478G= (p.Leu2826=) c.1223G= c.9096G= (p.Leu3032=) c.7272G= (p.Leu2424=) c.7275G= (p.Leu2425=) n.5538G= n.28G= c.8496G= (p.Leu2832=) c.7875G= (p.Leu2625=) c.8595G= (p.Leu2865=) c.9093G= (p.Leu3031=) c.6690G= (p.Leu2230=) | |
2 | g.237334759C>G | CA10607027 | COL6A3 | c.1611-1211G>C c.8478G>C (p.Leu2826=) c.1223G>C c.9096G>C (p.Leu3032=) c.7272G>C (p.Leu2424=) c.7275G>C (p.Leu2425=) n.5538G>C n.28G>C c.8496G>C (p.Leu2832=) c.7875G>C (p.Leu2625=) c.8595G>C (p.Leu2865=) c.9093G>C (p.Leu3031=) c.6690G>C (p.Leu2230=) | ClinVar dbSNP gnomAD v4 |
2 | g.237334759C>T | CA431699122 | COL6A3 | c.1611-1211G>A c.8478G>A (p.Leu2826=) c.1223G>A c.9096G>A (p.Leu3032=) c.7272G>A (p.Leu2424=) c.7275G>A (p.Leu2425=) n.5538G>A n.28G>A c.8496G>A (p.Leu2832=) c.7875G>A (p.Leu2625=) c.8595G>A (p.Leu2865=) c.9093G>A (p.Leu3031=) c.6690G>A (p.Leu2230=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334760A>C | CA351188605 | COL6A3 | c.1611-1212T>G c.8477T>G (p.Leu2826Arg) c.1222T>G c.9095T>G (p.Leu3032Arg) c.7271T>G (p.Leu2424Arg) c.7274T>G (p.Leu2425Arg) n.5537T>G n.27T>G c.8495T>G (p.Leu2832Arg) c.7874T>G (p.Leu2625Arg) c.8594T>G (p.Leu2865Arg) c.9092T>G (p.Leu3031Arg) c.6689T>G (p.Leu2230Arg) | |
2 | g.237334760A>G | CA351188606 | COL6A3 | c.1611-1212T>C c.8477T>C (p.Leu2826Pro) c.1222T>C c.9095T>C (p.Leu3032Pro) c.7271T>C (p.Leu2424Pro) c.7274T>C (p.Leu2425Pro) n.5537T>C n.27T>C c.8495T>C (p.Leu2832Pro) c.7874T>C (p.Leu2625Pro) c.8594T>C (p.Leu2865Pro) c.9092T>C (p.Leu3031Pro) c.6689T>C (p.Leu2230Pro) | |
2 | g.237334760A>T | CA351188607 | COL6A3 | c.1611-1212T>A c.8477T>A (p.Leu2826Gln) c.1222T>A c.9095T>A (p.Leu3032Gln) c.7271T>A (p.Leu2424Gln) c.7274T>A (p.Leu2425Gln) n.5537T>A n.27T>A c.8495T>A (p.Leu2832Gln) c.7874T>A (p.Leu2625Gln) c.8594T>A (p.Leu2865Gln) c.9092T>A (p.Leu3031Gln) c.6689T>A (p.Leu2230Gln) | |
2 | g.237334761G>A | CA431699126 | COL6A3 | c.1611-1213C>T c.8476C>T (p.Leu2826=) c.1221C>T c.9094C>T (p.Leu3032=) c.7270C>T (p.Leu2424=) c.7273C>T (p.Leu2425=) n.5536C>T n.26C>T c.8494C>T (p.Leu2832=) c.7873C>T (p.Leu2625=) c.8593C>T (p.Leu2865=) c.9091C>T (p.Leu3031=) c.6688C>T (p.Leu2230=) | |
2 | g.237334761G>C | CA351188608 | COL6A3 | c.1611-1213C>G c.8476C>G (p.Leu2826Val) c.1221C>G c.9094C>G (p.Leu3032Val) c.7270C>G (p.Leu2424Val) c.7273C>G (p.Leu2425Val) n.5536C>G n.26C>G c.8494C>G (p.Leu2832Val) c.7873C>G (p.Leu2625Val) c.8593C>G (p.Leu2865Val) c.9091C>G (p.Leu3031Val) c.6688C>G (p.Leu2230Val) | |
2 | g.237334761G>T | CA351188609 | COL6A3 | c.1611-1213C>A c.8476C>A (p.Leu2826Met) c.1221C>A c.9094C>A (p.Leu3032Met) c.7270C>A (p.Leu2424Met) c.7273C>A (p.Leu2425Met) n.5536C>A n.26C>A c.8494C>A (p.Leu2832Met) c.7873C>A (p.Leu2625Met) c.8593C>A (p.Leu2865Met) c.9091C>A (p.Leu3031Met) c.6688C>A (p.Leu2230Met) | |
2 | g.237334762G>A | CA2187362 | COL6A3 | c.1611-1214C>T c.8475C>T (p.Ser2825=) c.1220C>T c.9093C>T (p.Ser3031=) c.7269C>T (p.Ser2423=) c.7272C>T (p.Ser2424=) n.5535C>T n.25C>T c.8493C>T (p.Ser2831=) c.7872C>T (p.Ser2624=) c.8592C>T (p.Ser2864=) c.9090C>T (p.Ser3030=) c.6687C>T (p.Ser2229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334762G>C | CA431699127 | COL6A3 | c.1611-1214C>G c.8475C>G (p.Ser2825=) c.1220C>G c.9093C>G (p.Ser3031=) c.7269C>G (p.Ser2423=) c.7272C>G (p.Ser2424=) n.5535C>G n.25C>G c.8493C>G (p.Ser2831=) c.7872C>G (p.Ser2624=) c.8592C>G (p.Ser2864=) c.9090C>G (p.Ser3030=) c.6687C>G (p.Ser2229=) | |
2 | g.237334762G= | CA1337606444 | COL6A3 | c.1611-1214C= c.8475C= (p.Ser2825=) c.1220C= c.9093C= (p.Ser3031=) c.7269C= (p.Ser2423=) c.7272C= (p.Ser2424=) n.5535C= n.25C= c.8493C= (p.Ser2831=) c.7872C= (p.Ser2624=) c.8592C= (p.Ser2864=) c.9090C= (p.Ser3030=) c.6687C= (p.Ser2229=) | |
2 | g.237334762G>T | CA431699128 | COL6A3 | c.1611-1214C>A c.8475C>A (p.Ser2825=) c.1220C>A c.9093C>A (p.Ser3031=) c.7269C>A (p.Ser2423=) c.7272C>A (p.Ser2424=) n.5535C>A n.25C>A c.8493C>A (p.Ser2831=) c.7872C>A (p.Ser2624=) c.8592C>A (p.Ser2864=) c.9090C>A (p.Ser3030=) c.6687C>A (p.Ser2229=) | |
2 | g.237334763G>A | CA351188611 | COL6A3 | c.1611-1215C>T c.8474C>T (p.Ser2825Phe) c.1219C>T c.9092C>T (p.Ser3031Phe) c.7268C>T (p.Ser2423Phe) c.7271C>T (p.Ser2424Phe) n.5534C>T n.24C>T c.8492C>T (p.Ser2831Phe) c.7871C>T (p.Ser2624Phe) c.8591C>T (p.Ser2864Phe) c.9089C>T (p.Ser3030Phe) c.6686C>T (p.Ser2229Phe) | |
2 | g.237334763G>C | CA351188613 | COL6A3 | c.1611-1215C>G c.8474C>G (p.Ser2825Cys) c.1219C>G c.9092C>G (p.Ser3031Cys) c.7268C>G (p.Ser2423Cys) c.7271C>G (p.Ser2424Cys) n.5534C>G n.24C>G c.8492C>G (p.Ser2831Cys) c.7871C>G (p.Ser2624Cys) c.8591C>G (p.Ser2864Cys) c.9089C>G (p.Ser3030Cys) c.6686C>G (p.Ser2229Cys) | |
2 | g.237334763G>T | CA351188615 | COL6A3 | c.1611-1215C>A c.8474C>A (p.Ser2825Tyr) c.1219C>A c.9092C>A (p.Ser3031Tyr) c.7268C>A (p.Ser2423Tyr) c.7271C>A (p.Ser2424Tyr) n.5534C>A n.24C>A c.8492C>A (p.Ser2831Tyr) c.7871C>A (p.Ser2624Tyr) c.8591C>A (p.Ser2864Tyr) c.9089C>A (p.Ser3030Tyr) c.6686C>A (p.Ser2229Tyr) | |
2 | g.237334764A>C | CA351188617 | COL6A3 | c.1611-1216T>G c.8473T>G (p.Ser2825Ala) c.1218T>G c.9091T>G (p.Ser3031Ala) c.7267T>G (p.Ser2423Ala) c.7270T>G (p.Ser2424Ala) n.5533T>G n.23T>G c.8491T>G (p.Ser2831Ala) c.7870T>G (p.Ser2624Ala) c.8590T>G (p.Ser2864Ala) c.9088T>G (p.Ser3030Ala) c.6685T>G (p.Ser2229Ala) | |
2 | g.237334764A>G | CA351188618 | COL6A3 | c.1611-1216T>C c.8473T>C (p.Ser2825Pro) c.1218T>C c.9091T>C (p.Ser3031Pro) c.7267T>C (p.Ser2423Pro) c.7270T>C (p.Ser2424Pro) n.5533T>C n.23T>C c.8491T>C (p.Ser2831Pro) c.7870T>C (p.Ser2624Pro) c.8590T>C (p.Ser2864Pro) c.9088T>C (p.Ser3030Pro) c.6685T>C (p.Ser2229Pro) | |
2 | g.237334764A>T | CA351188621 | COL6A3 | c.1611-1216T>A c.8473T>A (p.Ser2825Thr) c.1218T>A c.9091T>A (p.Ser3031Thr) c.7267T>A (p.Ser2423Thr) c.7270T>A (p.Ser2424Thr) n.5533T>A n.23T>A c.8491T>A (p.Ser2831Thr) c.7870T>A (p.Ser2624Thr) c.8590T>A (p.Ser2864Thr) c.9088T>A (p.Ser3030Thr) c.6685T>A (p.Ser2229Thr) | |
2 | g.237334765C>A | CA351188625 | COL6A3 | c.1611-1217G>T c.8472G>T (p.Gln2824His) c.1217G>T c.9090G>T (p.Gln3030His) c.7266G>T (p.Gln2422His) c.7269G>T (p.Gln2423His) n.5532G>T n.22G>T c.8490G>T (p.Gln2830His) c.7869G>T (p.Gln2623His) c.8589G>T (p.Gln2863His) c.9087G>T (p.Gln3029His) c.6684G>T (p.Gln2228His) | |
2 | g.237334765C= | CA1337606445 | COL6A3 | c.1611-1217G= c.8472G= (p.Gln2824=) c.1217G= c.9090G= (p.Gln3030=) c.7266G= (p.Gln2422=) c.7269G= (p.Gln2423=) n.5532G= n.22G= c.8490G= (p.Gln2830=) c.7869G= (p.Gln2623=) c.8589G= (p.Gln2863=) c.9087G= (p.Gln3029=) c.6684G= (p.Gln2228=) | |
2 | g.237334765C>G | CA2187363 | COL6A3 | c.1611-1217G>C c.8472G>C (p.Gln2824His) c.1217G>C c.9090G>C (p.Gln3030His) c.7266G>C (p.Gln2422His) c.7269G>C (p.Gln2423His) n.5532G>C n.22G>C c.8490G>C (p.Gln2830His) c.7869G>C (p.Gln2623His) c.8589G>C (p.Gln2863His) c.9087G>C (p.Gln3029His) c.6684G>C (p.Gln2228His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334765C>T | CA431699129 | COL6A3 | c.1611-1217G>A c.8472G>A (p.Gln2824=) c.1217G>A c.9090G>A (p.Gln3030=) c.7266G>A (p.Gln2422=) c.7269G>A (p.Gln2423=) n.5532G>A n.22G>A c.8490G>A (p.Gln2830=) c.7869G>A (p.Gln2623=) c.8589G>A (p.Gln2863=) c.9087G>A (p.Gln3029=) c.6684G>A (p.Gln2228=) | |
2 | g.237334766T>A | CA351188632 | COL6A3 | c.1611-1218A>T c.8471A>T (p.Gln2824Leu) c.1216A>T c.9089A>T (p.Gln3030Leu) c.7265A>T (p.Gln2422Leu) c.7268A>T (p.Gln2423Leu) n.5531A>T n.21A>T c.8489A>T (p.Gln2830Leu) c.7868A>T (p.Gln2623Leu) c.8588A>T (p.Gln2863Leu) c.9086A>T (p.Gln3029Leu) c.6683A>T (p.Gln2228Leu) | |
2 | g.237334766T>C | CA351188636 | COL6A3 | c.1611-1218A>G c.8471A>G (p.Gln2824Arg) c.1216A>G c.9089A>G (p.Gln3030Arg) c.7265A>G (p.Gln2422Arg) c.7268A>G (p.Gln2423Arg) n.5531A>G n.21A>G c.8489A>G (p.Gln2830Arg) c.7868A>G (p.Gln2623Arg) c.8588A>G (p.Gln2863Arg) c.9086A>G (p.Gln3029Arg) c.6683A>G (p.Gln2228Arg) | |
2 | g.237334766T>G | CA351188644 | COL6A3 | c.1611-1218A>C c.8471A>C (p.Gln2824Pro) c.1216A>C c.9089A>C (p.Gln3030Pro) c.7265A>C (p.Gln2422Pro) c.7268A>C (p.Gln2423Pro) n.5531A>C n.21A>C c.8489A>C (p.Gln2830Pro) c.7868A>C (p.Gln2623Pro) c.8588A>C (p.Gln2863Pro) c.9086A>C (p.Gln3029Pro) c.6683A>C (p.Gln2228Pro) | |
2 | g.237334767G>A | CA351188648 | COL6A3 | c.1611-1219C>T c.8470C>T (p.Gln2824Ter) c.1215C>T c.9088C>T (p.Gln3030Ter) c.7264C>T (p.Gln2422Ter) c.7267C>T (p.Gln2423Ter) n.5530C>T n.20C>T c.8488C>T (p.Gln2830Ter) c.7867C>T (p.Gln2623Ter) c.8587C>T (p.Gln2863Ter) c.9085C>T (p.Gln3029Ter) c.6682C>T (p.Gln2228Ter) | |
2 | g.237334767G>C | CA351188650 | COL6A3 | c.1611-1219C>G c.8470C>G (p.Gln2824Glu) c.1215C>G c.9088C>G (p.Gln3030Glu) c.7264C>G (p.Gln2422Glu) c.7267C>G (p.Gln2423Glu) n.5530C>G n.20C>G c.8488C>G (p.Gln2830Glu) c.7867C>G (p.Gln2623Glu) c.8587C>G (p.Gln2863Glu) c.9085C>G (p.Gln3029Glu) c.6682C>G (p.Gln2228Glu) | |
2 | g.237334767G>T | CA351188646 | COL6A3 | c.1611-1219C>A c.8470C>A (p.Gln2824Lys) c.1215C>A c.9088C>A (p.Gln3030Lys) c.7264C>A (p.Gln2422Lys) c.7267C>A (p.Gln2423Lys) n.5530C>A n.20C>A c.8488C>A (p.Gln2830Lys) c.7867C>A (p.Gln2623Lys) c.8587C>A (p.Gln2863Lys) c.9085C>A (p.Gln3029Lys) c.6682C>A (p.Gln2228Lys) | |
2 | g.237334768A= | CA1337606446 | COL6A3 | c.1611-1220T= c.8469T= (p.Asp2823=) c.1214T= c.9087T= (p.Asp3029=) c.7263T= (p.Asp2421=) c.7266T= (p.Asp2422=) n.5529T= n.19T= c.8487T= (p.Asp2829=) c.7866T= (p.Asp2622=) c.8586T= (p.Asp2862=) c.9084T= (p.Asp3028=) c.6681T= (p.Asp2227=) | |
2 | g.237334768A>C | CA351188653 | COL6A3 | c.1611-1220T>G c.8469T>G (p.Asp2823Glu) c.1214T>G c.9087T>G (p.Asp3029Glu) c.7263T>G (p.Asp2421Glu) c.7266T>G (p.Asp2422Glu) n.5529T>G n.19T>G c.8487T>G (p.Asp2829Glu) c.7866T>G (p.Asp2622Glu) c.8586T>G (p.Asp2862Glu) c.9084T>G (p.Asp3028Glu) c.6681T>G (p.Asp2227Glu) | |
2 | g.237334768A>G | CA431699130 | COL6A3 | c.1611-1220T>C c.8469T>C (p.Asp2823=) c.1214T>C c.9087T>C (p.Asp3029=) c.7263T>C (p.Asp2421=) c.7266T>C (p.Asp2422=) n.5529T>C n.19T>C c.8487T>C (p.Asp2829=) c.7866T>C (p.Asp2622=) c.8586T>C (p.Asp2862=) c.9084T>C (p.Asp3028=) c.6681T>C (p.Asp2227=) | |
2 | g.237334768A>T | CA351188652 | COL6A3 | c.1611-1220T>A c.8469T>A (p.Asp2823Glu) c.1214T>A c.9087T>A (p.Asp3029Glu) c.7263T>A (p.Asp2421Glu) c.7266T>A (p.Asp2422Glu) n.5529T>A n.19T>A c.8487T>A (p.Asp2829Glu) c.7866T>A (p.Asp2622Glu) c.8586T>A (p.Asp2862Glu) c.9084T>A (p.Asp3028Glu) c.6681T>A (p.Asp2227Glu) | ClinVar dbSNP |
2 | g.237334769T>A | CA351188656 | COL6A3 | c.1611-1221A>T c.8468A>T (p.Asp2823Val) c.1213A>T c.9086A>T (p.Asp3029Val) c.7262A>T (p.Asp2421Val) c.7265A>T (p.Asp2422Val) n.5528A>T n.18A>T c.8486A>T (p.Asp2829Val) c.7865A>T (p.Asp2622Val) c.8585A>T (p.Asp2862Val) c.9083A>T (p.Asp3028Val) c.6680A>T (p.Asp2227Val) | |
2 | g.237334769T>C | CA351188660 | COL6A3 | c.1611-1221A>G c.8468A>G (p.Asp2823Gly) c.1213A>G c.9086A>G (p.Asp3029Gly) c.7262A>G (p.Asp2421Gly) c.7265A>G (p.Asp2422Gly) n.5528A>G n.18A>G c.8486A>G (p.Asp2829Gly) c.7865A>G (p.Asp2622Gly) c.8585A>G (p.Asp2862Gly) c.9083A>G (p.Asp3028Gly) c.6680A>G (p.Asp2227Gly) | |
2 | g.237334769T>G | CA67829473 | COL6A3 | c.1611-1221A>C c.8468A>C (p.Asp2823Ala) c.1213A>C c.9086A>C (p.Asp3029Ala) c.7262A>C (p.Asp2421Ala) c.7265A>C (p.Asp2422Ala) n.5528A>C n.18A>C c.8486A>C (p.Asp2829Ala) c.7865A>C (p.Asp2622Ala) c.8585A>C (p.Asp2862Ala) c.9083A>C (p.Asp3028Ala) c.6680A>C (p.Asp2227Ala) | dbSNP |
2 | g.237334769T= | CA1337606447 | COL6A3 | c.1611-1221A= c.8468A= (p.Asp2823=) c.1213A= c.9086A= (p.Asp3029=) c.7262A= (p.Asp2421=) c.7265A= (p.Asp2422=) n.5528A= n.18A= c.8486A= (p.Asp2829=) c.7865A= (p.Asp2622=) c.8585A= (p.Asp2862=) c.9083A= (p.Asp3028=) c.6680A= (p.Asp2227=) | |
2 | g.237334770C>A | CA351188664 | COL6A3 | c.1611-1222G>T c.8467G>T (p.Asp2823Tyr) c.1212G>T c.9085G>T (p.Asp3029Tyr) c.7261G>T (p.Asp2421Tyr) c.7264G>T (p.Asp2422Tyr) n.5527G>T n.17G>T c.8485G>T (p.Asp2829Tyr) c.7864G>T (p.Asp2622Tyr) c.8584G>T (p.Asp2862Tyr) c.9082G>T (p.Asp3028Tyr) c.6679G>T (p.Asp2227Tyr) | |
2 | g.237334770C>G | CA351188666 | COL6A3 | c.1611-1222G>C c.8467G>C (p.Asp2823His) c.1212G>C c.9085G>C (p.Asp3029His) c.7261G>C (p.Asp2421His) c.7264G>C (p.Asp2422His) n.5527G>C n.17G>C c.8485G>C (p.Asp2829His) c.7864G>C (p.Asp2622His) c.8584G>C (p.Asp2862His) c.9082G>C (p.Asp3028His) c.6679G>C (p.Asp2227His) | |
2 | g.237334770C>T | CA351188669 | COL6A3 | c.1611-1222G>A c.8467G>A (p.Asp2823Asn) c.1212G>A c.9085G>A (p.Asp3029Asn) c.7261G>A (p.Asp2421Asn) c.7264G>A (p.Asp2422Asn) n.5527G>A n.17G>A c.8485G>A (p.Asp2829Asn) c.7864G>A (p.Asp2622Asn) c.8584G>A (p.Asp2862Asn) c.9082G>A (p.Asp3028Asn) c.6679G>A (p.Asp2227Asn) | |
2 | g.237334771A= | CA1337606448 | COL6A3 | c.1611-1223T= c.8466T= (p.His2822=) c.1211T= c.9084T= (p.His3028=) c.7260T= (p.His2420=) c.7263T= (p.His2421=) n.5526T= n.16T= c.8484T= (p.His2828=) c.7863T= (p.His2621=) c.8583T= (p.His2861=) c.9081T= (p.His3027=) c.6678T= (p.His2226=) | |
2 | g.237334771A>C | CA351188670 | COL6A3 | c.1611-1223T>G c.8466T>G (p.His2822Gln) c.1211T>G c.9084T>G (p.His3028Gln) c.7260T>G (p.His2420Gln) c.7263T>G (p.His2421Gln) n.5526T>G n.16T>G c.8484T>G (p.His2828Gln) c.7863T>G (p.His2621Gln) c.8583T>G (p.His2861Gln) c.9081T>G (p.His3027Gln) c.6678T>G (p.His2226Gln) | |
2 | g.237334771A>G | CA431699131 | COL6A3 | c.1611-1223T>C c.8466T>C (p.His2822=) c.1211T>C c.9084T>C (p.His3028=) c.7260T>C (p.His2420=) c.7263T>C (p.His2421=) n.5526T>C n.16T>C c.8484T>C (p.His2828=) c.7863T>C (p.His2621=) c.8583T>C (p.His2861=) c.9081T>C (p.His3027=) c.6678T>C (p.His2226=) | dbSNP gnomAD v4 |
2 | g.237334771A>T | CA351188671 | COL6A3 | c.1611-1223T>A c.8466T>A (p.His2822Gln) c.1211T>A c.9084T>A (p.His3028Gln) c.7260T>A (p.His2420Gln) c.7263T>A (p.His2421Gln) n.5526T>A n.16T>A c.8484T>A (p.His2828Gln) c.7863T>A (p.His2621Gln) c.8583T>A (p.His2861Gln) c.9081T>A (p.His3027Gln) c.6678T>A (p.His2226Gln) | |
2 | g.237334772del | CA2663791985 | COL6A3 | c.1611-1224del c.8465del (p.His2822LeufsTer7) c.1210del c.9083del (p.His3028LeufsTer7) c.7259del (p.His2420LeufsTer7) c.7262del (p.His2421LeufsTer7) n.5525del n.15del c.8483del (p.His2828LeufsTer7) c.7862del (p.His2621LeufsTer7) c.8582del (p.His2861LeufsTer7) c.9080del (p.His3027LeufsTer7) c.6677del (p.His2226LeufsTer7) | gnomAD v4 |
2 | g.237334772T>A | CA351188672 | COL6A3 | c.1611-1224A>T c.8465A>T (p.His2822Leu) c.1210A>T c.9083A>T (p.His3028Leu) c.7259A>T (p.His2420Leu) c.7262A>T (p.His2421Leu) n.5525A>T n.15A>T c.8483A>T (p.His2828Leu) c.7862A>T (p.His2621Leu) c.8582A>T (p.His2861Leu) c.9080A>T (p.His3027Leu) c.6677A>T (p.His2226Leu) | |
2 | g.237334772T>C | CA351188675 | COL6A3 | c.1611-1224A>G c.8465A>G (p.His2822Arg) c.1210A>G c.9083A>G (p.His3028Arg) c.7259A>G (p.His2420Arg) c.7262A>G (p.His2421Arg) n.5525A>G n.15A>G c.8483A>G (p.His2828Arg) c.7862A>G (p.His2621Arg) c.8582A>G (p.His2861Arg) c.9080A>G (p.His3027Arg) c.6677A>G (p.His2226Arg) | ClinVar |
2 | g.237334772T>G | CA351188676 | COL6A3 | c.1611-1224A>C c.8465A>C (p.His2822Pro) c.1210A>C c.9083A>C (p.His3028Pro) c.7259A>C (p.His2420Pro) c.7262A>C (p.His2421Pro) n.5525A>C n.15A>C c.8483A>C (p.His2828Pro) c.7862A>C (p.His2621Pro) c.8582A>C (p.His2861Pro) c.9080A>C (p.His3027Pro) c.6677A>C (p.His2226Pro) | ClinVar |
2 | g.237334773G>A | CA2187364 | COL6A3 | c.1611-1225C>T c.8464C>T (p.His2822Tyr) c.1209C>T c.9082C>T (p.His3028Tyr) c.7258C>T (p.His2420Tyr) c.7261C>T (p.His2421Tyr) n.5524C>T n.14C>T c.8482C>T (p.His2828Tyr) c.7861C>T (p.His2621Tyr) c.8581C>T (p.His2861Tyr) c.9079C>T (p.His3027Tyr) c.6676C>T (p.His2226Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334773G>C | CA351188686 | COL6A3 | c.1611-1225C>G c.8464C>G (p.His2822Asp) c.1209C>G c.9082C>G (p.His3028Asp) c.7258C>G (p.His2420Asp) c.7261C>G (p.His2421Asp) n.5524C>G n.14C>G c.8482C>G (p.His2828Asp) c.7861C>G (p.His2621Asp) c.8581C>G (p.His2861Asp) c.9079C>G (p.His3027Asp) c.6676C>G (p.His2226Asp) | |
2 | g.237334773G= | CA1337606449 | COL6A3 | c.1611-1225C= c.8464C= (p.His2822=) c.1209C= c.9082C= (p.His3028=) c.7258C= (p.His2420=) c.7261C= (p.His2421=) n.5524C= n.14C= c.8482C= (p.His2828=) c.7861C= (p.His2621=) c.8581C= (p.His2861=) c.9079C= (p.His3027=) c.6676C= (p.His2226=) | |
2 | g.237334773G>T | CA351188682 | COL6A3 | c.1611-1225C>A c.8464C>A (p.His2822Asn) c.1209C>A c.9082C>A (p.His3028Asn) c.7258C>A (p.His2420Asn) c.7261C>A (p.His2421Asn) n.5524C>A n.14C>A c.8482C>A (p.His2828Asn) c.7861C>A (p.His2621Asn) c.8581C>A (p.His2861Asn) c.9079C>A (p.His3027Asn) c.6676C>A (p.His2226Asn) | |
2 | g.237334774G>A | CA431699132 | COL6A3 | c.1611-1226C>T c.8463C>T (p.Ala2821=) c.1208C>T c.9081C>T (p.Ala3027=) c.7257C>T (p.Ala2419=) c.7260C>T (p.Ala2420=) n.5523C>T n.13C>T c.8481C>T (p.Ala2827=) c.7860C>T (p.Ala2620=) c.8580C>T (p.Ala2860=) c.9078C>T (p.Ala3026=) c.6675C>T (p.Ala2225=) | COSMIC |
2 | g.237334774G>C | CA431699133 | COL6A3 | c.1611-1226C>G c.8463C>G (p.Ala2821=) c.1208C>G c.9081C>G (p.Ala3027=) c.7257C>G (p.Ala2419=) c.7260C>G (p.Ala2420=) n.5523C>G n.13C>G c.8481C>G (p.Ala2827=) c.7860C>G (p.Ala2620=) c.8580C>G (p.Ala2860=) c.9078C>G (p.Ala3026=) c.6675C>G (p.Ala2225=) | |
2 | g.237334774G>T | CA431699134 | COL6A3 | c.1611-1226C>A c.8463C>A (p.Ala2821=) c.1208C>A c.9081C>A (p.Ala3027=) c.7257C>A (p.Ala2419=) c.7260C>A (p.Ala2420=) n.5523C>A n.13C>A c.8481C>A (p.Ala2827=) c.7860C>A (p.Ala2620=) c.8580C>A (p.Ala2860=) c.9078C>A (p.Ala3026=) c.6675C>A (p.Ala2225=) | |
2 | g.237334775G>A | CA351188688 | COL6A3 | c.1611-1227C>T c.8462C>T (p.Ala2821Val) c.1207C>T c.9080C>T (p.Ala3027Val) c.7256C>T (p.Ala2419Val) c.7259C>T (p.Ala2420Val) n.5522C>T n.12C>T c.8480C>T (p.Ala2827Val) c.7859C>T (p.Ala2620Val) c.8579C>T (p.Ala2860Val) c.9077C>T (p.Ala3026Val) c.6674C>T (p.Ala2225Val) | ClinVar dbSNP |
2 | g.237334775G>C | CA351188694 | COL6A3 | c.1611-1227C>G c.8462C>G (p.Ala2821Gly) c.1207C>G c.9080C>G (p.Ala3027Gly) c.7256C>G (p.Ala2419Gly) c.7259C>G (p.Ala2420Gly) n.5522C>G n.12C>G c.8480C>G (p.Ala2827Gly) c.7859C>G (p.Ala2620Gly) c.8579C>G (p.Ala2860Gly) c.9077C>G (p.Ala3026Gly) c.6674C>G (p.Ala2225Gly) | |
2 | g.237334775G= | CA1337606450 | COL6A3 | c.1611-1227C= c.8462C= (p.Ala2821=) c.1207C= c.9080C= (p.Ala3027=) c.7256C= (p.Ala2419=) c.7259C= (p.Ala2420=) n.5522C= n.12C= c.8480C= (p.Ala2827=) c.7859C= (p.Ala2620=) c.8579C= (p.Ala2860=) c.9077C= (p.Ala3026=) c.6674C= (p.Ala2225=) | |
2 | g.237334775G>T | CA351188697 | COL6A3 | c.1611-1227C>A c.8462C>A (p.Ala2821Asp) c.1207C>A c.9080C>A (p.Ala3027Asp) c.7256C>A (p.Ala2419Asp) c.7259C>A (p.Ala2420Asp) n.5522C>A n.12C>A c.8480C>A (p.Ala2827Asp) c.7859C>A (p.Ala2620Asp) c.8579C>A (p.Ala2860Asp) c.9077C>A (p.Ala3026Asp) c.6674C>A (p.Ala2225Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334776C>A | CA351188699 | COL6A3 | c.1611-1228G>T c.8461G>T (p.Ala2821Ser) c.1206G>T c.9079G>T (p.Ala3027Ser) c.7255G>T (p.Ala2419Ser) c.7258G>T (p.Ala2420Ser) n.5521G>T n.11G>T c.8479G>T (p.Ala2827Ser) c.7858G>T (p.Ala2620Ser) c.8578G>T (p.Ala2860Ser) c.9076G>T (p.Ala3026Ser) c.6673G>T (p.Ala2225Ser) | |
2 | g.237334776C>G | CA351188700 | COL6A3 | c.1611-1228G>C c.8461G>C (p.Ala2821Pro) c.1206G>C c.9079G>C (p.Ala3027Pro) c.7255G>C (p.Ala2419Pro) c.7258G>C (p.Ala2420Pro) n.5521G>C n.11G>C c.8479G>C (p.Ala2827Pro) c.7858G>C (p.Ala2620Pro) c.8578G>C (p.Ala2860Pro) c.9076G>C (p.Ala3026Pro) c.6673G>C (p.Ala2225Pro) | |
2 | g.237334776C>T | CA351188701 | COL6A3 | c.1611-1228G>A c.8461G>A (p.Ala2821Thr) c.1206G>A c.9079G>A (p.Ala3027Thr) c.7255G>A (p.Ala2419Thr) c.7258G>A (p.Ala2420Thr) n.5521G>A n.11G>A c.8479G>A (p.Ala2827Thr) c.7858G>A (p.Ala2620Thr) c.8578G>A (p.Ala2860Thr) c.9076G>A (p.Ala3026Thr) c.6673G>A (p.Ala2225Thr) | |
2 | g.237334777T>A | CA431699135 | COL6A3 | c.1611-1229A>T c.8460A>T (p.Ser2820=) c.1205A>T c.9078A>T (p.Ser3026=) c.7254A>T (p.Ser2418=) c.7257A>T (p.Ser2419=) n.5520A>T n.10A>T c.8478A>T (p.Ser2826=) c.7857A>T (p.Ser2619=) c.8577A>T (p.Ser2859=) c.9075A>T (p.Ser3025=) c.6672A>T (p.Ser2224=) | |
2 | g.237334777T>C | CA431699136 | COL6A3 | c.1611-1229A>G c.8460A>G (p.Ser2820=) c.1205A>G c.9078A>G (p.Ser3026=) c.7254A>G (p.Ser2418=) c.7257A>G (p.Ser2419=) n.5520A>G n.10A>G c.8478A>G (p.Ser2826=) c.7857A>G (p.Ser2619=) c.8577A>G (p.Ser2859=) c.9075A>G (p.Ser3025=) c.6672A>G (p.Ser2224=) | |
2 | g.237334777T>G | CA431699137 | COL6A3 | c.1611-1229A>C c.8460A>C (p.Ser2820=) c.1205A>C c.9078A>C (p.Ser3026=) c.7254A>C (p.Ser2418=) c.7257A>C (p.Ser2419=) n.5520A>C n.10A>C c.8478A>C (p.Ser2826=) c.7857A>C (p.Ser2619=) c.8577A>C (p.Ser2859=) c.9075A>C (p.Ser3025=) c.6672A>C (p.Ser2224=) | |
2 | g.237334778G>A | CA351188702 | COL6A3 | c.1611-1230C>T c.8459C>T (p.Ser2820Leu) c.1204C>T c.9077C>T (p.Ser3026Leu) c.7253C>T (p.Ser2418Leu) c.7256C>T (p.Ser2419Leu) n.5519C>T n.9C>T c.8477C>T (p.Ser2826Leu) c.7856C>T (p.Ser2619Leu) c.8576C>T (p.Ser2859Leu) c.9074C>T (p.Ser3025Leu) c.6671C>T (p.Ser2224Leu) | |
2 | g.237334778G>C | CA67829475 | COL6A3 | c.1611-1230C>G c.8459C>G (p.Ser2820Ter) c.1204C>G c.9077C>G (p.Ser3026Ter) c.7253C>G (p.Ser2418Ter) c.7256C>G (p.Ser2419Ter) n.5519C>G n.9C>G c.8477C>G (p.Ser2826Ter) c.7856C>G (p.Ser2619Ter) c.8576C>G (p.Ser2859Ter) c.9074C>G (p.Ser3025Ter) c.6671C>G (p.Ser2224Ter) | dbSNP |
2 | g.237334778G= | CA1337606451 | COL6A3 | c.1611-1230C= c.8459C= (p.Ser2820=) c.1204C= c.9077C= (p.Ser3026=) c.7253C= (p.Ser2418=) c.7256C= (p.Ser2419=) n.5519C= n.9C= c.8477C= (p.Ser2826=) c.7856C= (p.Ser2619=) c.8576C= (p.Ser2859=) c.9074C= (p.Ser3025=) c.6671C= (p.Ser2224=) | |
2 | g.237334778G>T | CA351188704 | COL6A3 | c.1611-1230C>A c.8459C>A (p.Ser2820Ter) c.1204C>A c.9077C>A (p.Ser3026Ter) c.7253C>A (p.Ser2418Ter) c.7256C>A (p.Ser2419Ter) n.5519C>A n.9C>A c.8477C>A (p.Ser2826Ter) c.7856C>A (p.Ser2619Ter) c.8576C>A (p.Ser2859Ter) c.9074C>A (p.Ser3025Ter) c.6671C>A (p.Ser2224Ter) | |
2 | g.237334779A= | CA1337606452 | COL6A3 | c.1611-1231T= c.8458T= (p.Ser2820=) c.1203T= c.9076T= (p.Ser3026=) c.7252T= (p.Ser2418=) c.7255T= (p.Ser2419=) n.5518T= n.8T= c.8476T= (p.Ser2826=) c.7855T= (p.Ser2619=) c.8575T= (p.Ser2859=) c.9073T= (p.Ser3025=) c.6670T= (p.Ser2224=) | |
2 | g.237334779A>C | CA351188711 | COL6A3 | c.1611-1231T>G c.8458T>G (p.Ser2820Ala) c.1203T>G c.9076T>G (p.Ser3026Ala) c.7252T>G (p.Ser2418Ala) c.7255T>G (p.Ser2419Ala) n.5518T>G n.8T>G c.8476T>G (p.Ser2826Ala) c.7855T>G (p.Ser2619Ala) c.8575T>G (p.Ser2859Ala) c.9073T>G (p.Ser3025Ala) c.6670T>G (p.Ser2224Ala) | |
2 | g.237334779A>G | CA351188712 | COL6A3 | c.1611-1231T>C c.8458T>C (p.Ser2820Pro) c.1203T>C c.9076T>C (p.Ser3026Pro) c.7252T>C (p.Ser2418Pro) c.7255T>C (p.Ser2419Pro) n.5518T>C n.8T>C c.8476T>C (p.Ser2826Pro) c.7855T>C (p.Ser2619Pro) c.8575T>C (p.Ser2859Pro) c.9073T>C (p.Ser3025Pro) c.6670T>C (p.Ser2224Pro) | ClinVar dbSNP |
2 | g.237334779A>T | CA351188716 | COL6A3 | c.1611-1231T>A c.8458T>A (p.Ser2820Thr) c.1203T>A c.9076T>A (p.Ser3026Thr) c.7252T>A (p.Ser2418Thr) c.7255T>A (p.Ser2419Thr) n.5518T>A n.8T>A c.8476T>A (p.Ser2826Thr) c.7855T>A (p.Ser2619Thr) c.8575T>A (p.Ser2859Thr) c.9073T>A (p.Ser3025Thr) c.6670T>A (p.Ser2224Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334780G>A | CA431699138 | COL6A3 | c.1611-1232C>T c.8457C>T (p.Thr2819=) c.1202C>T c.9075C>T (p.Thr3025=) c.7251C>T (p.Thr2417=) c.7254C>T (p.Thr2418=) n.5517C>T n.7C>T c.8475C>T (p.Thr2825=) c.7854C>T (p.Thr2618=) c.8574C>T (p.Thr2858=) c.9072C>T (p.Thr3024=) c.6669C>T (p.Thr2223=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334780G>C | CA2187365 | COL6A3 | c.1611-1232C>G c.8457C>G (p.Thr2819=) c.1202C>G c.9075C>G (p.Thr3025=) c.7251C>G (p.Thr2417=) c.7254C>G (p.Thr2418=) n.5517C>G n.7C>G c.8475C>G (p.Thr2825=) c.7854C>G (p.Thr2618=) c.8574C>G (p.Thr2858=) c.9072C>G (p.Thr3024=) c.6669C>G (p.Thr2223=) | dbSNP ExAC gnomAD v2 gnomAD v3 |
2 | g.237334780G= | CA1337606453 | COL6A3 | c.1611-1232C= c.8457C= (p.Thr2819=) c.1202C= c.9075C= (p.Thr3025=) c.7251C= (p.Thr2417=) c.7254C= (p.Thr2418=) n.5517C= n.7C= c.8475C= (p.Thr2825=) c.7854C= (p.Thr2618=) c.8574C= (p.Thr2858=) c.9072C= (p.Thr3024=) c.6669C= (p.Thr2223=) | |
2 | g.237334780G>T | CA431699139 | COL6A3 | c.1611-1232C>A c.8457C>A (p.Thr2819=) c.1202C>A c.9075C>A (p.Thr3025=) c.7251C>A (p.Thr2417=) c.7254C>A (p.Thr2418=) n.5517C>A n.7C>A c.8475C>A (p.Thr2825=) c.7854C>A (p.Thr2618=) c.8574C>A (p.Thr2858=) c.9072C>A (p.Thr3024=) c.6669C>A (p.Thr2223=) | gnomAD v4 |
2 | g.237334781G>A | CA351188731 | COL6A3 | c.1611-1233C>T c.8456C>T (p.Thr2819Ile) c.1201C>T c.9074C>T (p.Thr3025Ile) c.7250C>T (p.Thr2417Ile) c.7253C>T (p.Thr2418Ile) n.5516C>T n.6C>T c.8474C>T (p.Thr2825Ile) c.7853C>T (p.Thr2618Ile) c.8573C>T (p.Thr2858Ile) c.9071C>T (p.Thr3024Ile) c.6668C>T (p.Thr2223Ile) | |
2 | g.237334781G>C | CA351188725 | COL6A3 | c.1611-1233C>G c.8456C>G (p.Thr2819Ser) c.1201C>G c.9074C>G (p.Thr3025Ser) c.7250C>G (p.Thr2417Ser) c.7253C>G (p.Thr2418Ser) n.5516C>G n.6C>G c.8474C>G (p.Thr2825Ser) c.7853C>G (p.Thr2618Ser) c.8573C>G (p.Thr2858Ser) c.9071C>G (p.Thr3024Ser) c.6668C>G (p.Thr2223Ser) | |
2 | g.237334781G>T | CA351188723 | COL6A3 | c.1611-1233C>A c.8456C>A (p.Thr2819Asn) c.1201C>A c.9074C>A (p.Thr3025Asn) c.7250C>A (p.Thr2417Asn) c.7253C>A (p.Thr2418Asn) n.5516C>A n.6C>A c.8474C>A (p.Thr2825Asn) c.7853C>A (p.Thr2618Asn) c.8573C>A (p.Thr2858Asn) c.9071C>A (p.Thr3024Asn) c.6668C>A (p.Thr2223Asn) | |
2 | g.237334782T>A | CA351188733 | COL6A3 | c.1611-1234A>T c.8455A>T (p.Thr2819Ser) c.1200A>T c.9073A>T (p.Thr3025Ser) c.7249A>T (p.Thr2417Ser) c.7252A>T (p.Thr2418Ser) n.5515A>T n.5A>T c.8473A>T (p.Thr2825Ser) c.7852A>T (p.Thr2618Ser) c.8572A>T (p.Thr2858Ser) c.9070A>T (p.Thr3024Ser) c.6667A>T (p.Thr2223Ser) | |
2 | g.237334782T>C | CA351188735 | COL6A3 | c.1611-1234A>G c.8455A>G (p.Thr2819Ala) c.1200A>G c.9073A>G (p.Thr3025Ala) c.7249A>G (p.Thr2417Ala) c.7252A>G (p.Thr2418Ala) n.5515A>G n.5A>G c.8473A>G (p.Thr2825Ala) c.7852A>G (p.Thr2618Ala) c.8572A>G (p.Thr2858Ala) c.9070A>G (p.Thr3024Ala) c.6667A>G (p.Thr2223Ala) | |
2 | g.237334782T>G | CA351188737 | COL6A3 | c.1611-1234A>C c.8455A>C (p.Thr2819Pro) c.1200A>C c.9073A>C (p.Thr3025Pro) c.7249A>C (p.Thr2417Pro) c.7252A>C (p.Thr2418Pro) n.5515A>C n.5A>C c.8473A>C (p.Thr2825Pro) c.7852A>C (p.Thr2618Pro) c.8572A>C (p.Thr2858Pro) c.9070A>C (p.Thr3024Pro) c.6667A>C (p.Thr2223Pro) | |
2 | g.237334783G>A | CA431699143 | COL6A3 | c.1611-1235C>T c.8454C>T (p.Val2818=) c.1199C>T c.9072C>T (p.Val3024=) c.7248C>T (p.Val2416=) c.7251C>T (p.Val2417=) n.5514C>T n.4C>T c.8472C>T (p.Val2824=) c.7851C>T (p.Val2617=) c.8571C>T (p.Val2857=) c.9069C>T (p.Val3023=) c.6666C>T (p.Val2222=) | |
2 | g.237334783G>C | CA431699141 | COL6A3 | c.1611-1235C>G c.8454C>G (p.Val2818=) c.1199C>G c.9072C>G (p.Val3024=) c.7248C>G (p.Val2416=) c.7251C>G (p.Val2417=) n.5514C>G n.4C>G c.8472C>G (p.Val2824=) c.7851C>G (p.Val2617=) c.8571C>G (p.Val2857=) c.9069C>G (p.Val3023=) c.6666C>G (p.Val2222=) | |
2 | g.237334783G= | CA1337606454 | COL6A3 | c.1611-1235C= c.8454C= (p.Val2818=) c.1199C= c.9072C= (p.Val3024=) c.7248C= (p.Val2416=) c.7251C= (p.Val2417=) n.5514C= n.4C= c.8472C= (p.Val2824=) c.7851C= (p.Val2617=) c.8571C= (p.Val2857=) c.9069C= (p.Val3023=) c.6666C= (p.Val2222=) | |
2 | g.237334783G>T | CA431699142 | COL6A3 | c.1611-1235C>A c.8454C>A (p.Val2818=) c.1199C>A c.9072C>A (p.Val3024=) c.7248C>A (p.Val2416=) c.7251C>A (p.Val2417=) n.5514C>A n.4C>A c.8472C>A (p.Val2824=) c.7851C>A (p.Val2617=) c.8571C>A (p.Val2857=) c.9069C>A (p.Val3023=) c.6666C>A (p.Val2222=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334784A>C | CA351188741 | COL6A3 | c.1611-1236T>G c.8453T>G (p.Val2818Gly) c.1198T>G c.9071T>G (p.Val3024Gly) c.7247T>G (p.Val2416Gly) c.7250T>G (p.Val2417Gly) n.5513T>G n.3T>G c.8471T>G (p.Val2824Gly) c.7850T>G (p.Val2617Gly) c.8570T>G (p.Val2857Gly) c.9068T>G (p.Val3023Gly) c.6665T>G (p.Val2222Gly) | |
2 | g.237334784A>G | CA351188744 | COL6A3 | c.1611-1236T>C c.8453T>C (p.Val2818Ala) c.1198T>C c.9071T>C (p.Val3024Ala) c.7247T>C (p.Val2416Ala) c.7250T>C (p.Val2417Ala) n.5513T>C n.3T>C c.8471T>C (p.Val2824Ala) c.7850T>C (p.Val2617Ala) c.8570T>C (p.Val2857Ala) c.9068T>C (p.Val3023Ala) c.6665T>C (p.Val2222Ala) | |
2 | g.237334784A>T | CA351188748 | COL6A3 | c.1611-1236T>A c.8453T>A (p.Val2818Asp) c.1198T>A c.9071T>A (p.Val3024Asp) c.7247T>A (p.Val2416Asp) c.7250T>A (p.Val2417Asp) n.5513T>A n.3T>A c.8471T>A (p.Val2824Asp) c.7850T>A (p.Val2617Asp) c.8570T>A (p.Val2857Asp) c.9068T>A (p.Val3023Asp) c.6665T>A (p.Val2222Asp) |