| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.43121968T>A | CA376557478 | RET | c.2357T>A (p.Met786Lys) n.2327T>A c.2753T>A (p.Met918Lys) c.*1347T>A (n.*1347T>A) c.*102T>A (n.*102T>A) c.1991T>A (p.Met664Lys) | |
| 10 | g.43121968T>C | CA009082 | RET | c.2357T>C (p.Met786Thr) n.2327T>C c.2753T>C (p.Met918Thr) c.*1347T>C (n.*1347T>C) c.*102T>C (n.*102T>C) c.1991T>C (p.Met664Thr) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 10 | g.[43121968T>C;43121980C>A] | CA658832943 | RET | c.[2357T>C;2369C>A] (p.[Met786Thr;Ser790Tyr]) n.[2327T>C;2339C>A] c.[2753T>C;2765C>A] (p.[Met918Thr;Ser922Tyr]) c.[*1347T>C;*1359C>A] (n.[*1347T>C;*1359C>A]) c.[*102T>C;*114C>A] (n.[*102T>C;*114C>A]) c.[1991T>C;2003C>A] (p.[Met664Thr;Ser668Tyr]) | |
| 10 | g.43121968T>G | CA376557479 | RET | c.2357T>G (p.Met786Arg) n.2327T>G c.2753T>G (p.Met918Arg) c.*1347T>G (n.*1347T>G) c.*102T>G (n.*102T>G) c.1991T>G (p.Met664Arg) | |
| 10 | g.43121968T= | CA1905822206 | RET | c.2357T= (p.Met786=) n.2327T= c.2753T= (p.Met918=) c.*1347T= (n.*1347T=) c.*102T= (n.*102T=) c.1991T= (p.Met664=) | |
| 10 | g.43121969G>A | CA040830 | RET | c.2358G>A (p.Met786Ile) n.2328G>A c.2754G>A (p.Met918Ile) c.*1348G>A (n.*1348G>A) c.*103G>A (n.*103G>A) c.1992G>A (p.Met664Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.43121969G>C | CA376557482 | RET | c.2358G>C (p.Met786Ile) n.2328G>C c.2754G>C (p.Met918Ile) c.*1348G>C (n.*1348G>C) c.*103G>C (n.*103G>C) c.1992G>C (p.Met664Ile) | dbSNP |
| 10 | g.43121969G= | CA1905822209 | RET | c.2358G= (p.Met786=) n.2328G= c.2754G= (p.Met918=) c.*1348G= (n.*1348G=) c.*103G= (n.*103G=) c.1992G= (p.Met664=) | |
| 10 | g.43121969G>T | CA376557484 | RET | c.2358G>T (p.Met786Ile) n.2328G>T c.2754G>T (p.Met918Ile) c.*1348G>T (n.*1348G>T) c.*103G>T (n.*103G>T) c.1992G>T (p.Met664Ile) | |
| 10 | g.43121970G>A | CA376557486 | RET | c.2359G>A (p.Ala787Thr) n.2329G>A c.2755G>A (p.Ala919Thr) c.*1349G>A (n.*1349G>A) c.*104G>A (n.*104G>A) c.1993G>A (p.Ala665Thr) | dbSNP |
| 10 | g.43121970G>C | CA376557487 | RET | c.2359G>C (p.Ala787Pro) n.2329G>C c.2755G>C (p.Ala919Pro) c.*1349G>C (n.*1349G>C) c.*104G>C (n.*104G>C) c.1993G>C (p.Ala665Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.43121970G= | CA1905822221 | RET | c.2359G= (p.Ala787=) n.2329G= c.2755G= (p.Ala919=) c.*1349G= (n.*1349G=) c.*104G= (n.*104G=) c.1993G= (p.Ala665=) | |
| 10 | g.43121970G>T | CA376557489 | RET | c.2359G>T (p.Ala787Ser) n.2329G>T c.2755G>T (p.Ala919Ser) c.*1349G>T (n.*1349G>T) c.*104G>T (n.*104G>T) c.1993G>T (p.Ala665Ser) | dbSNP COSMIC COSMIC |
| 10 | g.43121971C>A | CA376557495 | RET | c.2360C>A (p.Ala787Glu) n.2330C>A c.2756C>A (p.Ala919Glu) c.*1350C>A (n.*1350C>A) c.*105C>A (n.*105C>A) c.1994C>A (p.Ala665Glu) | ClinVar |
| 10 | g.43121971C>G | CA376557491 | RET | c.2360C>G (p.Ala787Gly) n.2330C>G c.2756C>G (p.Ala919Gly) c.*1350C>G (n.*1350C>G) c.*105C>G (n.*105C>G) c.1994C>G (p.Ala665Gly) | |
| 10 | g.43121971C>T | CA376557493 | RET | c.2360C>T (p.Ala787Val) n.2330C>T c.2756C>T (p.Ala919Val) c.*1350C>T (n.*1350C>T) c.*105C>T (n.*105C>T) c.1994C>T (p.Ala665Val) | COSMIC |
| 10 | g.43121972A= | CA1905822228 | RET | c.2361A= (p.Ala787=) n.2331A= c.2757A= (p.Ala919=) c.*1351A= (n.*1351A=) c.*106A= (n.*106A=) c.1995A= (p.Ala665=) | |
| 10 | g.43121972A>C | CA469029639 | RET | c.2361A>C (p.Ala787=) n.2331A>C c.2757A>C (p.Ala919=) c.*1351A>C (n.*1351A>C) c.*106A>C (n.*106A>C) c.1995A>C (p.Ala665=) | |
| 10 | g.43121972A>G | CA469029643 | RET | c.2361A>G (p.Ala787=) n.2331A>G c.2757A>G (p.Ala919=) c.*1351A>G (n.*1351A>G) c.*106A>G (n.*106A>G) c.1995A>G (p.Ala665=) | ClinVar dbSNP |
| 10 | g.43121972A>T | CA469029641 | RET | c.2361A>T (p.Ala787=) n.2331A>T c.2757A>T (p.Ala919=) c.*1351A>T (n.*1351A>T) c.*106A>T (n.*106A>T) c.1995A>T (p.Ala665=) | dbSNP |
| 10 | g.43121973A= | CA1905822236 | RET | c.2362A= (p.Ile788=) n.2332A= c.2758A= (p.Ile920=) c.*1352A= (n.*1352A=) c.*107A= (n.*107A=) c.1996A= (p.Ile666=) | |
| 10 | g.43121973A>C | CA376557498 | RET | c.2362A>C (p.Ile788Leu) n.2332A>C c.2758A>C (p.Ile920Leu) c.*1352A>C (n.*1352A>C) c.*107A>C (n.*107A>C) c.1996A>C (p.Ile666Leu) | |
| 10 | g.43121973A>G | CA040857 | RET | c.2362A>G (p.Ile788Val) n.2332A>G c.2758A>G (p.Ile920Val) c.*1352A>G (n.*1352A>G) c.*107A>G (n.*107A>G) c.1996A>G (p.Ile666Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.43121973A>T | CA376557500 | RET | c.2362A>T (p.Ile788Phe) n.2332A>T c.2758A>T (p.Ile920Phe) c.*1352A>T (n.*1352A>T) c.*107A>T (n.*107A>T) c.1996A>T (p.Ile666Phe) | |
| 10 | g.43121974T>A | CA376557503 | RET | c.2363T>A (p.Ile788Asn) n.2333T>A c.2759T>A (p.Ile920Asn) c.*1353T>A (n.*1353T>A) c.*108T>A (n.*108T>A) c.1997T>A (p.Ile666Asn) | dbSNP |
| 10 | g.43121974T>C | CA040874 | RET | c.2363T>C (p.Ile788Thr) n.2333T>C c.2759T>C (p.Ile920Thr) c.*1353T>C (n.*1353T>C) c.*108T>C (n.*108T>C) c.1997T>C (p.Ile666Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.43121974T>G | CA376557505 | RET | c.2363T>G (p.Ile788Ser) n.2333T>G c.2759T>G (p.Ile920Ser) c.*1353T>G (n.*1353T>G) c.*108T>G (n.*108T>G) c.1997T>G (p.Ile666Ser) | dbSNP |
| 10 | g.43121974T= | CA1905822239 | RET | c.2363T= (p.Ile788=) n.2333T= c.2759T= (p.Ile920=) c.*1353T= (n.*1353T=) c.*108T= (n.*108T=) c.1997T= (p.Ile666=) | |
| 10 | g.43121975T>A | CA469029653 | RET | c.2364T>A (p.Ile788=) n.2334T>A c.2760T>A (p.Ile920=) c.*1354T>A (n.*1354T>A) c.*109T>A (n.*109T>A) c.1998T>A (p.Ile666=) | dbSNP |
| 10 | g.43121975T>C | CA469029652 | RET | c.2364T>C (p.Ile788=) n.2334T>C c.2760T>C (p.Ile920=) c.*1354T>C (n.*1354T>C) c.*109T>C (n.*109T>C) c.1998T>C (p.Ile666=) | dbSNP gnomAD v4 |
| 10 | g.43121975T>G | CA376557507 | RET | c.2364T>G (p.Ile788Met) n.2334T>G c.2760T>G (p.Ile920Met) c.*1354T>G (n.*1354T>G) c.*109T>G (n.*109T>G) c.1998T>G (p.Ile666Met) | |
| 10 | g.43121976G>A | CA376557509 | RET | c.2365G>A (p.Glu789Lys) n.2335G>A c.2761G>A (p.Glu921Lys) c.*1355G>A (n.*1355G>A) c.*110G>A (n.*110G>A) c.1999G>A (p.Glu667Lys) | dbSNP COSMIC |
| 10 | g.43121976G>C | CA376557512 | RET | c.2365G>C (p.Glu789Gln) n.2335G>C c.2761G>C (p.Glu921Gln) c.*1355G>C (n.*1355G>C) c.*110G>C (n.*110G>C) c.1999G>C (p.Glu667Gln) | dbSNP |
| 10 | g.43121976G>T | CA376557514 | RET | c.2365G>T (p.Glu789Ter) n.2335G>T c.2761G>T (p.Glu921Ter) c.*1355G>T (n.*1355G>T) c.*110G>T (n.*110G>T) c.1999G>T (p.Glu667Ter) | |
| 10 | g.43121977A>C | CA376557520 | RET | c.2366A>C (p.Glu789Ala) n.2336A>C c.2762A>C (p.Glu921Ala) c.*1356A>C (n.*1356A>C) c.*111A>C (n.*111A>C) c.2000A>C (p.Glu667Ala) | |
| 10 | g.43121977A>G | CA376557518 | RET | c.2366A>G (p.Glu789Gly) n.2336A>G c.2762A>G (p.Glu921Gly) c.*1356A>G (n.*1356A>G) c.*111A>G (n.*111A>G) c.2000A>G (p.Glu667Gly) | |
| 10 | g.43121977A>T | CA376557516 | RET | c.2366A>T (p.Glu789Val) n.2336A>T c.2762A>T (p.Glu921Val) c.*1356A>T (n.*1356A>T) c.*111A>T (n.*111A>T) c.2000A>T (p.Glu667Val) | dbSNP |
| 10 | g.43121978A>C | CA376557523 | RET | c.2367A>C (p.Glu789Asp) n.2337A>C c.2763A>C (p.Glu921Asp) c.*1357A>C (n.*1357A>C) c.*112A>C (n.*112A>C) c.2001A>C (p.Glu667Asp) | dbSNP |
| 10 | g.43121978A>G | CA469029663 | RET | c.2367A>G (p.Glu789=) n.2337A>G c.2763A>G (p.Glu921=) c.*1357A>G (n.*1357A>G) c.*112A>G (n.*112A>G) c.2001A>G (p.Glu667=) | gnomAD v4 |
| 10 | g.43121978A>T | CA376557524 | RET | c.2367A>T (p.Glu789Asp) n.2337A>T c.2763A>T (p.Glu921Asp) c.*1357A>T (n.*1357A>T) c.*112A>T (n.*112A>T) c.2001A>T (p.Glu667Asp) | dbSNP |
| 10 | g.43121979T>A | CA376557527 | RET | c.2368T>A (p.Ser790Thr) n.2338T>A c.2764T>A (p.Ser922Thr) c.*1358T>A (n.*1358T>A) c.*113T>A (n.*113T>A) c.2002T>A (p.Ser668Thr) | dbSNP |
| 10 | g.43121979T>C | CA376557528 | RET | c.2368T>C (p.Ser790Pro) n.2338T>C c.2764T>C (p.Ser922Pro) c.*1358T>C (n.*1358T>C) c.*113T>C (n.*113T>C) c.2002T>C (p.Ser668Pro) | |
| 10 | g.43121979T>G | CA376557530 | RET | c.2368T>G (p.Ser790Ala) n.2338T>G c.2764T>G (p.Ser922Ala) c.*1358T>G (n.*1358T>G) c.*113T>G (n.*113T>G) c.2002T>G (p.Ser668Ala) | dbSNP |
| 10 | g.43121980C>A | CA009087 | RET | c.2369C>A (p.Ser790Tyr) n.2339C>A c.2765C>A (p.Ser922Tyr) c.*1359C>A (n.*1359C>A) c.*114C>A (n.*114C>A) c.2003C>A (p.Ser668Tyr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 10 | g.43121980C= | CA1905822250 | RET | c.2369C= (p.Ser790=) n.2339C= c.2765C= (p.Ser922=) c.*1359C= (n.*1359C=) c.*114C= (n.*114C=) c.2003C= (p.Ser668=) | |
| 10 | g.43121980C>G | CA376557533 | RET | c.2369C>G (p.Ser790Cys) n.2339C>G c.2765C>G (p.Ser922Cys) c.*1359C>G (n.*1359C>G) c.*114C>G (n.*114C>G) c.2003C>G (p.Ser668Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43121980C>T | CA206267151 | RET | c.2369C>T (p.Ser790Phe) n.2339C>T c.2765C>T (p.Ser922Phe) c.*1359C>T (n.*1359C>T) c.*114C>T (n.*114C>T) c.2003C>T (p.Ser668Phe) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43121981C>A | CA469029672 | RET | c.2370C>A (p.Ser790=) n.2340C>A c.2766C>A (p.Ser922=) c.*1360C>A (n.*1360C>A) c.*115C>A (n.*115C>A) c.2004C>A (p.Ser668=) | dbSNP |
| 10 | g.43121981C>G | CA469029674 | RET | c.2370C>G (p.Ser790=) n.2340C>G c.2766C>G (p.Ser922=) c.*1360C>G (n.*1360C>G) c.*115C>G (n.*115C>G) c.2004C>G (p.Ser668=) | dbSNP |
| 10 | g.43121981C>T | CA469029675 | RET | c.2370C>T (p.Ser790=) n.2340C>T c.2766C>T (p.Ser922=) c.*1360C>T (n.*1360C>T) c.*115C>T (n.*115C>T) c.2004C>T (p.Ser668=) | dbSNP COSMIC COSMIC |