Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94409303G= | CA1726750486 | COL1A2 | c.793-19G= (n.793-19G=) c.787-19G= (n.787-19G=) | |
7 | g.94409303G>T | CA1726750489 | COL1A2 | c.793-19G>T (n.793-19G>T) c.787-19G>T (n.787-19G>T) | dbSNP gnomAD v4 |
7 | g.94409304T>C | CA1104592892 | COL1A2 | c.793-18T>C (n.793-18T>C) c.787-18T>C (n.787-18T>C) | dbSNP gnomAD v4 |
7 | g.94409304T= | CA1726750494 | COL1A2 | c.793-18T= (n.793-18T=) c.787-18T= (n.787-18T=) | |
7 | g.94409305T>C | CA2776991462 | COL1A2 | c.793-17T>C (n.793-17T>C) c.787-17T>C (n.787-17T>C) | |
7 | g.94409306T>C | CA576321781 | COL1A2 | c.793-16T>C (n.793-16T>C) c.787-16T>C (n.787-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94409306T>G | CA4346834 | COL1A2 | c.793-16T>G (n.793-16T>G) c.787-16T>G (n.787-16T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94409306T= | CA1726750499 | COL1A2 | c.793-16T= (n.793-16T=) c.787-16T= (n.787-16T=) | |
7 | g.94409307A= | CA1726750529 | COL1A2 | c.793-15A= (n.793-15A=) c.787-15A= (n.787-15A=) | |
7 | g.94409307A>C | CA844001853 | COL1A2 | c.793-15A>C (n.793-15A>C) c.787-15A>C (n.787-15A>C) | dbSNP gnomAD v4 |
7 | g.94409309T>C | CA2683768168 | COL1A2 | c.793-13T>C (n.793-13T>C) c.787-13T>C (n.787-13T>C) | gnomAD v4 |
7 | g.94409312C= | CA1726750533 | COL1A2 | c.793-10C= (n.793-10C=) c.787-10C= (n.787-10C=) | |
7 | g.94409312C>T | CA4346835 | COL1A2 | c.793-10C>T (n.793-10C>T) c.787-10C>T (n.787-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.94409314T>A | CA162919483 | COL1A2 | c.793-8T>A (n.793-8T>A) c.787-8T>A (n.787-8T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94409314T= | CA1726750536 | COL1A2 | c.793-8T= (n.793-8T=) c.787-8T= (n.787-8T=) | |
7 | g.94409319del | CA2683768169 | COL1A2 | c.793-3del (n.793-3del) c.787-3del (n.787-3del) | gnomAD v4 |
7 | g.94409317T>G | CA576321782 | COL1A2 | c.793-5T>G (n.793-5T>G) c.787-5T>G (n.787-5T>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94409317T= | CA1726750537 | COL1A2 | c.793-5T= (n.793-5T=) c.787-5T= (n.787-5T=) | |
7 | g.94409318T>C | CA2683768170 | COL1A2 | c.793-4T>C (n.793-4T>C) c.787-4T>C (n.787-4T>C) | gnomAD v4 |
7 | g.94409320A>C | CA368220535 | COL1A2 | c.793-2A>C (n.793-2A>C) c.787-2A>C (n.787-2A>C) | |
7 | g.94409320A>G | CA368220533 | COL1A2 | c.793-2A>G (n.793-2A>G) c.787-2A>G (n.787-2A>G) | |
7 | g.94409320A>T | CA368220534 | COL1A2 | c.793-2A>T (n.793-2A>T) c.787-2A>T (n.787-2A>T) | |
7 | g.94409321G>A | CA368220536 | COL1A2 | c.793-1G>A (n.793-1G>A) c.787-1G>A (n.787-1G>A) | |
7 | g.94409321G>C | CA368220537 | COL1A2 | c.793-1G>C (n.793-1G>C) c.787-1G>C (n.787-1G>C) | |
7 | g.94409321G>T | CA368220538 | COL1A2 | c.793-1G>T (n.793-1G>T) c.787-1G>T (n.787-1G>T) | |
7 | g.94409322G>A | CA368220539 | COL1A2 | c.793G>A (p.Gly265Ser) c.787G>A (p.Gly263Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94409322G>C | CA368220540 | COL1A2 | c.793G>C (p.Gly265Arg) c.787G>C (p.Gly263Arg) | ClinVar dbSNP |
7 | g.94409322G= | CA1726750545 | COL1A2 | c.793G= (p.Gly265=) c.787G= (p.Gly263=) | |
7 | g.94409322G>T | CA368220541 | COL1A2 | c.793G>T (p.Gly265Cys) c.787G>T (p.Gly263Cys) | |
7 | g.94409323G>A | CA162919498 | COL1A2 | c.794G>A (p.Gly265Asp) c.788G>A (p.Gly263Asp) | ClinVar dbSNP |
7 | g.94409323G>C | CA368220542 | COL1A2 | c.794G>C (p.Gly265Ala) c.788G>C (p.Gly263Ala) | |
7 | g.94409323G= | CA1726750557 | COL1A2 | c.794G= (p.Gly265=) c.788G= (p.Gly263=) | |
7 | g.94409323G>T | CA368220543 | COL1A2 | c.794G>T (p.Gly265Val) c.788G>T (p.Gly263Val) | ClinVar dbSNP |
7 | g.94409324T>A | CA162919507 | COL1A2 | c.795T>A (p.Gly265=) c.789T>A (p.Gly263=) | ClinVar dbSNP gnomAD v4 |
7 | g.94409324T>C | CA456488239 | COL1A2 | c.795T>C (p.Gly265=) c.789T>C (p.Gly263=) | |
7 | g.94409324T>G | CA456488240 | COL1A2 | c.795T>G (p.Gly265=) c.789T>G (p.Gly263=) | |
7 | g.94409324T= | CA1726750562 | COL1A2 | c.795T= (p.Gly265=) c.789T= (p.Gly263=) | |
7 | g.94409325G>A | CA368220546 | COL1A2 | c.796G>A (p.Glu266Lys) c.790G>A (p.Glu264Lys) | gnomAD v4 |
7 | g.94409325G>C | CA368220545 | COL1A2 | c.796G>C (p.Glu266Gln) c.790G>C (p.Glu264Gln) | |
7 | g.94409325G>T | CA368220544 | COL1A2 | c.796G>T (p.Glu266Ter) c.790G>T (p.Glu264Ter) | |
7 | g.94409326A>C | CA368220547 | COL1A2 | c.797A>C (p.Glu266Ala) c.791A>C (p.Glu264Ala) | |
7 | g.94409326A>G | CA368220548 | COL1A2 | c.797A>G (p.Glu266Gly) c.791A>G (p.Glu264Gly) | |
7 | g.94409326A>T | CA368220549 | COL1A2 | c.797A>T (p.Glu266Val) c.791A>T (p.Glu264Val) | |
7 | g.94409327A= | CA1726750572 | COL1A2 | c.798A= (p.Glu266=) c.792A= (p.Glu264=) | |
7 | g.94409327A>C | CA368220550 | COL1A2 | c.798A>C (p.Glu266Asp) c.792A>C (p.Glu264Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94409327A>G | CA456488241 | COL1A2 | c.798A>G (p.Glu266=) c.792A>G (p.Glu264=) | |
7 | g.94409327A>T | CA368220551 | COL1A2 | c.798A>T (p.Glu266Asp) c.792A>T (p.Glu264Asp) | |
7 | g.94409328A>C | CA368220552 | COL1A2 | c.799A>C (p.Ile267Leu) c.793A>C (p.Ile265Leu) | |
7 | g.94409328A>G | CA368220553 | COL1A2 | c.799A>G (p.Ile267Val) c.793A>G (p.Ile265Val) | |
7 | g.94409328A>T | CA368220554 | COL1A2 | c.799A>T (p.Ile267Phe) c.793A>T (p.Ile265Phe) |