Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.62979488C>A | CA380937212 | SLC22A6 | c.1361G>T (p.Arg454Leu) c.*552G>T (n.*552G>T) c.1364G>T (p.Arg455Leu) | |
11 | g.62979488C= | CA1978015531 | SLC22A6 | c.1361G= (p.Arg454=) c.*552G= (n.*552G=) c.1364G= (p.Arg455=) | |
11 | g.62979488C>G | CA380937221 | SLC22A6 | c.1361G>C (p.Arg454Pro) c.*552G>C (n.*552G>C) c.1364G>C (p.Arg455Pro) | |
11 | g.62979488C>T | CA6059182 | SLC22A6 | c.1361G>A (p.Arg454Gln) c.1361G>A (p.Arg454His) c.*552G>A (n.*552G>A) c.1364G>A (p.Arg455Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62979489G>A | CA380937224 | SLC22A6 | c.1360C>T (p.Arg454Trp) c.1360C>T (p.Arg454Cys) c.*551C>T (n.*551C>T) c.1363C>T (p.Arg455Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.62979489G>C | CA380937225 | SLC22A6 | c.1360C>G (p.Arg454Gly) c.*551C>G (n.*551C>G) c.1363C>G (p.Arg455Gly) | gnomAD v4 |
11 | g.62979489G= | CA1978015537 | SLC22A6 | c.1360C= (p.Arg454=) c.*551C= (n.*551C=) c.1363C= (p.Arg455=) | |
11 | g.62979489G>T | CA380937226 | SLC22A6 | c.1360C>A (p.Arg454=) c.1360C>A (p.Arg454Ser) c.*551C>A (n.*551C>A) c.1363C>A (p.Arg455=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62979490G>A | CA223637800 | SLC22A6 | c.1359C>T (p.Ile453=) c.*550C>T (n.*550C>T) c.1362C>T (p.Ile454=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62979490G>C | CA380937229 | SLC22A6 | c.1359C>G (p.Ile453Met) c.*550C>G (n.*550C>G) c.1362C>G (p.Ile454Met) | |
11 | g.62979490G= | CA1978015546 | SLC22A6 | c.1359C= (p.Ile453=) c.*550C= (n.*550C=) c.1362C= (p.Ile454=) | |
11 | g.62979490G>T | CA474860145 | SLC22A6 | c.1359C>A (p.Ile453=) c.*550C>A (n.*550C>A) c.1362C>A (p.Ile454=) | gnomAD v4 |
11 | g.62979491A= | CA1978015550 | SLC22A6 | c.1358T= (p.Ile453=) c.*549T= (n.*549T=) c.1361T= (p.Ile454=) | |
11 | g.62979491A>C | CA380937235 | SLC22A6 | c.1358T>G (p.Ile453Ser) c.*549T>G (n.*549T>G) c.1361T>G (p.Ile454Ser) | |
11 | g.62979491A>G | CA6059183 | SLC22A6 | c.1358T>C (p.Ile453Thr) c.*549T>C (n.*549T>C) c.1361T>C (p.Ile454Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62979491A>T | CA380937241 | SLC22A6 | c.1358T>A (p.Ile453Asn) c.*549T>A (n.*549T>A) c.1361T>A (p.Ile454Asn) | |
11 | g.62979492T>A | CA380937243 | SLC22A6 | c.1357A>T (p.Ile453Phe) c.*548A>T (n.*548A>T) c.1360A>T (p.Ile454Phe) | |
11 | g.62979492T>C | CA6059184 | SLC22A6 | c.1357A>G (p.Ile453Val) c.*548A>G (n.*548A>G) c.1360A>G (p.Ile454Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62979492T>G | CA380937247 | SLC22A6 | c.1357A>C (p.Ile453Leu) c.*548A>C (n.*548A>C) c.1360A>C (p.Ile454Leu) | |
11 | g.62979492T= | CA1978015554 | SLC22A6 | c.1357A= (p.Ile453=) c.*548A= (n.*548A=) c.1360A= (p.Ile454=) | |
11 | g.62979493C>A | CA6059185 | SLC22A6 | c.1356G>T (p.Met452Ile) c.*547G>T (n.*547G>T) c.1359G>T (p.Met453Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62979493C= | CA1978015557 | SLC22A6 | c.1356G= (p.Met452=) c.*547G= (n.*547G=) c.1359G= (p.Met453=) | |
11 | g.62979493C>G | CA380937255 | SLC22A6 | c.1356G>C (p.Met452Ile) c.*547G>C (n.*547G>C) c.1359G>C (p.Met453Ile) | |
11 | g.62979493C>T | CA380937253 | SLC22A6 | c.1356G>A (p.Met452Ile) c.*547G>A (n.*547G>A) c.1359G>A (p.Met453Ile) | |
11 | g.62979494A= | CA1978015562 | SLC22A6 | c.1355T= (p.Met452=) c.*546T= (n.*546T=) c.1358T= (p.Met453=) | |
11 | g.62979494A>C | CA6059186 | SLC22A6 | c.1355T>G (p.Met452Arg) c.*546T>G (n.*546T>G) c.1358T>G (p.Met453Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62979494A>G | CA380937270 | SLC22A6 | c.1355T>C (p.Met452Thr) c.*546T>C (n.*546T>C) c.1358T>C (p.Met453Thr) | |
11 | g.62979494A>T | CA380937266 | SLC22A6 | c.1355T>A (p.Met452Lys) c.*546T>A (n.*546T>A) c.1358T>A (p.Met453Lys) | |
11 | g.62979495T>A | CA380937276 | SLC22A6 | c.1354A>T (p.Met452Leu) c.*545A>T (n.*545A>T) c.1357A>T (p.Met453Leu) | |
11 | g.62979495T>C | CA6059187 | SLC22A6 | c.1354A>G (p.Met452Val) c.*545A>G (n.*545A>G) c.1357A>G (p.Met453Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62979495T>G | CA380937282 | SLC22A6 | c.1354A>C (p.Met452Leu) c.*545A>C (n.*545A>C) c.1357A>C (p.Met453Leu) | |
11 | g.62979495T= | CA1978015566 | SLC22A6 | c.1354A= (p.Met452=) c.*545A= (n.*545A=) c.1357A= (p.Met453=) | |
11 | g.62979496T>A | CA474860150 | SLC22A6 | c.1353A>T (p.Thr451=) c.*544A>T (n.*544A>T) c.1356A>T (p.Thr452=) | |
11 | g.62979496T>C | CA474860151 | SLC22A6 | c.1353A>G (p.Thr451=) c.*544A>G (n.*544A>G) c.1356A>G (p.Thr452=) | |
11 | g.62979496T>G | CA474860152 | SLC22A6 | c.1353A>C (p.Thr451=) c.*544A>C (n.*544A>C) c.1356A>C (p.Thr452=) | |
11 | g.62979497G>A | CA380937285 | SLC22A6 | c.1352C>T (p.Thr451Ile) c.*543C>T (n.*543C>T) c.1355C>T (p.Thr452Ile) | gnomAD v4 |
11 | g.62979497G>C | CA380937286 | SLC22A6 | c.1352C>G (p.Thr451Arg) c.*543C>G (n.*543C>G) c.1355C>G (p.Thr452Arg) | |
11 | g.62979497G>T | CA380937287 | SLC22A6 | c.1352C>A (p.Thr451Lys) c.*543C>A (n.*543C>A) c.1355C>A (p.Thr452Lys) | gnomAD v4 |
11 | g.62979498T>A | CA380937289 | SLC22A6 | c.1351A>T (p.Thr451Ser) c.*542A>T (n.*542A>T) c.1354A>T (p.Thr452Ser) | |
11 | g.62979498T>C | CA380937290 | SLC22A6 | c.1351A>G (p.Thr451Ala) c.*542A>G (n.*542A>G) c.1354A>G (p.Thr452Ala) | |
11 | g.62979498T>G | CA380937292 | SLC22A6 | c.1351A>C (p.Thr451Pro) c.*542A>C (n.*542A>C) c.1354A>C (p.Thr452Pro) | |
11 | g.62979499G>A | CA474860158 | SLC22A6 | c.1350C>T (p.Pro450=) c.*541C>T (n.*541C>T) c.1353C>T (p.Pro451=) | |
11 | g.62979499G>C | CA474860155 | SLC22A6 | c.1350C>G (p.Pro450=) c.*541C>G (n.*541C>G) c.1353C>G (p.Pro451=) | |
11 | g.62979499G>T | CA474860156 | SLC22A6 | c.1350C>A (p.Pro450=) c.*541C>A (n.*541C>A) c.1353C>A (p.Pro451=) | gnomAD v4 COSMIC |
11 | g.62979500G>A | CA6059188 | SLC22A6 | c.1349C>T (p.Pro450Leu) c.*540C>T (n.*540C>T) c.1352C>T (p.Pro451Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62979500G>C | CA380937296 | SLC22A6 | c.1349C>G (p.Pro450Arg) c.*540C>G (n.*540C>G) c.1352C>G (p.Pro451Arg) | |
11 | g.62979500G= | CA1978015573 | SLC22A6 | c.1349C= (p.Pro450=) c.*540C= (n.*540C=) c.1352C= (p.Pro451=) | |
11 | g.62979500G>T | CA380937302 | SLC22A6 | c.1349C>A (p.Pro450His) c.*540C>A (n.*540C>A) c.1352C>A (p.Pro451His) | gnomAD v4 |
11 | g.62979501G>A | CA380937304 | SLC22A6 | c.1348C>T (p.Pro450Ser) c.*539C>T (n.*539C>T) c.1351C>T (p.Pro451Ser) | |
11 | g.62979501G>C | CA380937309 | SLC22A6 | c.1348C>G (p.Pro450Ala) c.*539C>G (n.*539C>G) c.1351C>G (p.Pro451Ala) |