Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.8015294_8015483del | CA2740095253 | GUCY2D | c.2770-34_2925del | ClinVar |
17 | g.8015404T>A | CA397954585 | GUCY2D | c.2846T>A (p.Ile949Asn) | |
17 | g.8015404T>C | CA250578 | GUCY2D | c.2846T>C (p.Ile949Thr) | ClinVar dbSNP |
17 | g.8015404T>G | CA397954588 | GUCY2D | c.2846T>G (p.Ile949Ser) | |
17 | g.8015404T= | CA2246119869 | GUCY2D | c.2846T= (p.Ile949=) | |
17 | g.8015405C>A | CA497753663 | GUCY2D | c.2847C>A (p.Ile949=) | |
17 | g.8015405C>G | CA397954590 | GUCY2D | c.2847C>G (p.Ile949Met) | gnomAD v4 |
17 | g.8015405C>T | CA497753662 | GUCY2D | c.2847C>T (p.Ile949=) | gnomAD v4 |
17 | g.8015406G>A | CA397954597 | GUCY2D | c.2848G>A (p.Ala950Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015406G>C | CA397954593 | GUCY2D | c.2848G>C (p.Ala950Pro) | |
17 | g.8015406G= | CA2246119879 | GUCY2D | c.2848G= (p.Ala950=) | |
17 | g.8015406G>T | CA397954595 | GUCY2D | c.2848G>T (p.Ala950Ser) | |
17 | g.8015407C>A | CA397954599 | GUCY2D | c.2849C>A (p.Ala950Asp) | |
17 | g.8015407C= | CA2246119887 | GUCY2D | c.2849C= (p.Ala950=) | |
17 | g.8015407C>G | CA397954600 | GUCY2D | c.2849C>G (p.Ala950Gly) | |
17 | g.8015407C>T | CA226101 | GUCY2D | c.2849C>T (p.Ala950Val) | ClinVar dbSNP gnomAD v4 |
17 | g.8015408C>A | CA8366242 | GUCY2D | c.2850C>A (p.Ala950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015408C= | CA2246119896 | GUCY2D | c.2850C= (p.Ala950=) | |
17 | g.8015408C>G | CA497753664 | GUCY2D | c.2850C>G (p.Ala950=) | |
17 | g.8015408C>T | CA8366241 | GUCY2D | c.2850C>T (p.Ala950=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015409A>C | CA397954610 | GUCY2D | c.2851A>C (p.Asn951His) | |
17 | g.8015409A>G | CA397954612 | GUCY2D | c.2851A>G (p.Asn951Asp) | |
17 | g.8015409A>T | CA397954614 | GUCY2D | c.2851A>T (p.Asn951Tyr) | |
17 | g.8015410A= | CA2246119902 | GUCY2D | c.2852A= (p.Asn951=) | |
17 | g.8015410A>C | CA397954617 | GUCY2D | c.2852A>C (p.Asn951Thr) | |
17 | g.8015410A>G | CA397954619 | GUCY2D | c.2852A>G (p.Asn951Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015410A>T | CA397954621 | GUCY2D | c.2852A>T (p.Asn951Ile) | |
17 | g.8015411C>A | CA397954626 | GUCY2D | c.2853C>A (p.Asn951Lys) | |
17 | g.8015411C>G | CA397954624 | GUCY2D | c.2853C>G (p.Asn951Lys) | |
17 | g.8015411C>T | CA497753665 | GUCY2D | c.2853C>T (p.Asn951=) | gnomAD v4 |
17 | g.8015412A>C | CA397954629 | GUCY2D | c.2854A>C (p.Met952Leu) | |
17 | g.8015412A>G | CA397954633 | GUCY2D | c.2854A>G (p.Met952Val) | gnomAD v4 |
17 | g.8015412A>T | CA397954631 | GUCY2D | c.2854A>T (p.Met952Leu) | |
17 | g.8015413T>A | CA397954636 | GUCY2D | c.2855T>A (p.Met952Lys) | |
17 | g.8015413T>C | CA397954638 | GUCY2D | c.2855T>C (p.Met952Thr) | gnomAD v4 |
17 | g.8015413T>G | CA397954639 | GUCY2D | c.2855T>G (p.Met952Arg) | |
17 | g.8015414G>A | CA397954642 | GUCY2D | c.2856G>A (p.Met952Ile) | gnomAD v4 |
17 | g.8015414G>C | CA397954644 | GUCY2D | c.2856G>C (p.Met952Ile) | |
17 | g.8015414G>T | CA397954646 | GUCY2D | c.2856G>T (p.Met952Ile) | |
17 | g.8015415T>A | CA397954648 | GUCY2D | c.2857T>A (p.Ser953Thr) | |
17 | g.8015415T>C | CA397954650 | GUCY2D | c.2857T>C (p.Ser953Pro) | |
17 | g.8015415T>G | CA397954653 | GUCY2D | c.2857T>G (p.Ser953Ala) | |
17 | g.8015416C>A | CA397954655 | GUCY2D | c.2858C>A (p.Ser953Ter) | |
17 | g.8015416C>G | CA397954658 | GUCY2D | c.2858C>G (p.Ser953Ter) | |
17 | g.8015416C>T | CA397954660 | GUCY2D | c.2858C>T (p.Ser953Leu) | |
17 | g.8015417A>C | CA497753666 | GUCY2D | c.2859A>C (p.Ser953=) | |
17 | g.8015417A>G | CA497753667 | GUCY2D | c.2859A>G (p.Ser953=) | |
17 | g.8015417A>T | CA497753668 | GUCY2D | c.2859A>T (p.Ser953=) | ClinVar gnomAD v4 |
17 | g.8015418C>A | CA397954662 | GUCY2D | c.2860C>A (p.Leu954Met) | |
17 | g.8015418C= | CA2246119910 | GUCY2D | c.2860C= (p.Leu954=) |