| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.186539566C>A | CA126996 | CRYGS | c.53G>T (p.Gly18Val) n.955G>T | ClinVar dbSNP |
| 3 | g.186539566C= | CA1426983570 | CRYGS | c.53G= (p.Gly18=) n.955G= | |
| 3 | g.186539566C>G | CA355704936 | CRYGS | c.53G>C (p.Gly18Ala) n.955G>C | |
| 3 | g.186539566C>T | CA355704934 | CRYGS | c.53G>A (p.Gly18Asp) n.955G>A | ClinVar |
| 3 | g.186539567C>A | CA355704939 | CRYGS | c.52G>T (p.Gly18Cys) n.954G>T | |
| 3 | g.186539567C>G | CA355704940 | CRYGS | c.52G>C (p.Gly18Arg) n.954G>C | |
| 3 | g.186539567C>T | CA355704941 | CRYGS | c.52G>A (p.Gly18Ser) n.954G>A | gnomAD v4 |
| 3 | g.186539568T>A | CA355704942 | CRYGS | c.51A>T (p.Gln17His) n.953A>T | |
| 3 | g.186539568T>C | CA2743943 | CRYGS | c.51A>G (p.Gln17=) n.953A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.186539568T>G | CA355704945 | CRYGS | c.51A>C (p.Gln17His) n.953A>C | |
| 3 | g.186539568T= | CA1426983571 | CRYGS | c.51A= (p.Gln17=) n.953A= | |
| 3 | g.186539569T>A | CA355704951 | CRYGS | c.50A>T (p.Gln17Leu) n.952A>T | |
| 3 | g.186539569T>C | CA355704953 | CRYGS | c.50A>G (p.Gln17Arg) n.952A>G | |
| 3 | g.186539569T>G | CA355704954 | CRYGS | c.50A>C (p.Gln17Pro) n.952A>C | |
| 3 | g.186539570G>A | CA355704958 | CRYGS | c.49C>T (p.Gln17Ter) n.951C>T | |
| 3 | g.186539570G>C | CA355704960 | CRYGS | c.49C>G (p.Gln17Glu) n.951C>G | dbSNP gnomAD v4 |
| 3 | g.186539570G= | CA1426983572 | CRYGS | c.49C= (p.Gln17=) n.951C= | |
| 3 | g.186539570G>T | CA355704962 | CRYGS | c.49C>A (p.Gln17Lys) n.951C>A | |
| 3 | g.186539571A>C | CA355704968 | CRYGS | c.48T>G (p.Phe16Leu) n.950T>G | |
| 3 | g.186539571A>G | CA437357770 | CRYGS | c.48T>C (p.Phe16=) n.950T>C | |
| 3 | g.186539571A>T | CA355704966 | CRYGS | c.48T>A (p.Phe16Leu) n.950T>A | |
| 3 | g.186539574del | CA2668948317 | CRYGS | c.48del (p.Gln17LysfsTer18) n.950del | gnomAD v4 |
| 3 | g.186539571_186539600delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG | CA1426983573 | CRYGS | c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT n.921_950delinsCAGATTACTTTCTATGAAGACAAAAATTTT | |
| 3 | g.186539572A>C | CA355704973 | CRYGS | c.47T>G (p.Phe16Cys) n.949T>G | gnomAD v4 |
| 3 | g.186539572A>G | CA355704974 | CRYGS | c.47T>C (p.Phe16Ser) n.949T>C | |
| 3 | g.186539572A>T | CA355704975 | CRYGS | c.47T>A (p.Phe16Tyr) n.949T>A | |
| 3 | g.186539574_186539602del | CA2743944 | CRYGS | c.22-3_47del n.921_949del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186539573A>C | CA355704977 | CRYGS | c.46T>G (p.Phe16Val) n.948T>G | |
| 3 | g.186539573A>G | CA355704978 | CRYGS | c.46T>C (p.Phe16Leu) n.948T>C | |
| 3 | g.186539573A>T | CA355704983 | CRYGS | c.46T>A (p.Phe16Ile) n.948T>A | |
| 3 | g.186539574A>C | CA355704986 | CRYGS | c.45T>G (p.Asn15Lys) n.947T>G | |
| 3 | g.186539574A>G | CA437357771 | CRYGS | c.45T>C (p.Asn15=) n.947T>C | |
| 3 | g.186539574A>T | CA355704992 | CRYGS | c.45T>A (p.Asn15Lys) n.947T>A | |
| 3 | g.186539575T>A | CA355704994 | CRYGS | c.44A>T (p.Asn15Ile) n.946A>T | |
| 3 | g.186539575T>C | CA2743945 | CRYGS | c.44A>G (p.Asn15Ser) n.946A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186539575T>G | CA355705001 | CRYGS | c.44A>C (p.Asn15Thr) n.946A>C | |
| 3 | g.186539575T= | CA1426983574 | CRYGS | c.44A= (p.Asn15=) n.946A= | |
| 3 | g.186539579dup | CA2577985885 | CRYGS | c.44dup (p.Asn15LysfsTer8) n.946dup | |
| 3 | g.186539579del | CA645517229 | CRYGS | c.44del (p.Asn15IlefsTer20) n.946del | COSMIC |
| 3 | g.186539576T>A | CA355705010 | CRYGS | c.43A>T (p.Asn15Tyr) n.945A>T | |
| 3 | g.186539576T>C | CA355705007 | CRYGS | c.43A>G (p.Asn15Asp) n.945A>G | |
| 3 | g.186539576T>G | CA355705005 | CRYGS | c.43A>C (p.Asn15His) n.945A>C | |
| 3 | g.186539577T>A | CA355705013 | CRYGS | c.42A>T (p.Lys14Asn) n.944A>T | |
| 3 | g.186539577T>C | CA437357772 | CRYGS | c.42A>G (p.Lys14=) n.944A>G | |
| 3 | g.186539577T>G | CA355705015 | CRYGS | c.42A>C (p.Lys14Asn) n.944A>C | gnomAD v4 |
| 3 | g.186539578T>A | CA355705017 | CRYGS | c.41A>T (p.Lys14Ile) n.943A>T | |
| 3 | g.186539578T>C | CA355705019 | CRYGS | c.41A>G (p.Lys14Arg) n.943A>G | |
| 3 | g.186539578T>G | CA355705020 | CRYGS | c.41A>C (p.Lys14Thr) n.943A>C | |
| 3 | g.186539579T>A | CA355705021 | CRYGS | c.40A>T (p.Lys14Ter) n.942A>T | |
| 3 | g.186539579T>C | CA2743946 | CRYGS | c.40A>G (p.Lys14Glu) n.942A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |