| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7584902A= | CA1608612544 | DSP | c.6311A= (p.Tyr2104=) c.7640A= (p.Tyr2547=) c.5843A= (p.Tyr1948=) | |
| 6 | g.7584902A>C | CA362693459 | DSP | c.6311A>C (p.Tyr2104Ser) c.7640A>C (p.Tyr2547Ser) c.5843A>C (p.Tyr1948Ser) | dbSNP |
| 6 | g.7584902A>G | CA362693460 | DSP | c.6311A>G (p.Tyr2104Cys) c.7640A>G (p.Tyr2547Cys) c.5843A>G (p.Tyr1948Cys) | |
| 6 | g.7584902A>T | CA362693461 | DSP | c.6311A>T (p.Tyr2104Phe) c.7640A>T (p.Tyr2547Phe) c.5843A>T (p.Tyr1948Phe) | |
| 6 | g.7584903C>A | CA362693463 | DSP | c.6312C>A (p.Tyr2104Ter) c.7641C>A (p.Tyr2547Ter) c.5844C>A (p.Tyr1948Ter) | |
| 6 | g.7584903C= | CA1608612555 | DSP | c.6312C= (p.Tyr2104=) c.7641C= (p.Tyr2547=) c.5844C= (p.Tyr1948=) | |
| 6 | g.7584903C>G | CA362693462 | DSP | c.6312C>G (p.Tyr2104Ter) c.7641C>G (p.Tyr2547Ter) c.5844C>G (p.Tyr1948Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584903C>T | CA448716948 | DSP | c.6312C>T (p.Tyr2104=) c.7641C>T (p.Tyr2547=) c.5844C>T (p.Tyr1948=) | ClinVar |
| 6 | g.7584904C>A | CA448716949 | DSP | c.6313C>A (p.Arg2105=) c.7642C>A (p.Arg2548=) c.5845C>A (p.Arg1949=) | |
| 6 | g.7584904C= | CA1608612562 | DSP | c.6313C= (p.Arg2105=) c.7642C= (p.Arg2548=) c.5845C= (p.Arg1949=) | |
| 6 | g.7584904C>G | CA133976314 | DSP | c.6313C>G (p.Arg2105Gly) c.7642C>G (p.Arg2548Gly) c.5845C>G (p.Arg1949Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584904C>T | CA362693464 | DSP | c.6313C>T (p.Arg2105Ter) c.7642C>T (p.Arg2548Ter) c.5845C>T (p.Arg1949Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584905G>A | CA133976323 | DSP | c.6314G>A (p.Arg2105Gln) c.7643G>A (p.Arg2548Gln) c.5846G>A (p.Arg1949Gln) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584905G>C | CA362693465 | DSP | c.6314G>C (p.Arg2105Pro) c.7643G>C (p.Arg2548Pro) c.5846G>C (p.Arg1949Pro) | ClinVar |
| 6 | g.7584905G= | CA1608612573 | DSP | c.6314G= (p.Arg2105=) c.7643G= (p.Arg2548=) c.5846G= (p.Arg1949=) | |
| 6 | g.7584905G>T | CA362693466 | DSP | c.6314G>T (p.Arg2105Leu) c.7643G>T (p.Arg2548Leu) c.5846G>T (p.Arg1949Leu) | |
| 6 | g.7584906A= | CA1608612585 | DSP | c.6315A= (p.Arg2105=) c.7644A= (p.Arg2548=) c.5847A= (p.Arg1949=) | |
| 6 | g.7584906A>C | CA448716955 | DSP | c.6315A>C (p.Arg2105=) c.7644A>C (p.Arg2548=) c.5847A>C (p.Arg1949=) | |
| 6 | g.7584906A>G | CA448716954 | DSP | c.6315A>G (p.Arg2105=) c.7644A>G (p.Arg2548=) c.5847A>G (p.Arg1949=) | |
| 6 | g.7584906A>T | CA10587636 | DSP | c.6315A>T (p.Arg2105=) c.7644A>T (p.Arg2548=) c.5847A>T (p.Arg1949=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584907T>A | CA362693467 | DSP | c.6316T>A (p.Ser2106Thr) c.7645T>A (p.Ser2549Thr) c.5848T>A (p.Ser1950Thr) | |
| 6 | g.7584907T>C | CA362693468 | DSP | c.6316T>C (p.Ser2106Pro) c.7645T>C (p.Ser2549Pro) c.5848T>C (p.Ser1950Pro) | |
| 6 | g.7584907T>G | CA362693469 | DSP | c.6316T>G (p.Ser2106Ala) c.7645T>G (p.Ser2549Ala) c.5848T>G (p.Ser1950Ala) | gnomAD v4 |
| 6 | g.7584908C>A | CA362693470 | DSP | c.6317C>A (p.Ser2106Tyr) c.7646C>A (p.Ser2549Tyr) c.5849C>A (p.Ser1950Tyr) | gnomAD v4 |
| 6 | g.7584908C= | CA1608612598 | DSP | c.6317C= (p.Ser2106=) c.7646C= (p.Ser2549=) c.5849C= (p.Ser1950=) | |
| 6 | g.7584908C>G | CA362693471 | DSP | c.6317C>G (p.Ser2106Cys) c.7646C>G (p.Ser2549Cys) c.5849C>G (p.Ser1950Cys) | |
| 6 | g.7584908C>T | CA362693472 | DSP | c.6317C>T (p.Ser2106Phe) c.7646C>T (p.Ser2549Phe) c.5849C>T (p.Ser1950Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584909C>A | CA448716965 | DSP | c.6318C>A (p.Ser2106=) c.7647C>A (p.Ser2549=) c.5850C>A (p.Ser1950=) | |
| 6 | g.7584909C= | CA1608612609 | DSP | c.6318C= (p.Ser2106=) c.7647C= (p.Ser2549=) c.5850C= (p.Ser1950=) | |
| 6 | g.7584909C>G | CA448716964 | DSP | c.6318C>G (p.Ser2106=) c.7647C>G (p.Ser2549=) c.5850C>G (p.Ser1950=) | dbSNP |
| 6 | g.7584909C>T | CA050340 | DSP | c.6318C>T (p.Ser2106=) c.7647C>T (p.Ser2549=) c.5850C>T (p.Ser1950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584910G>A | CA050354 | DSP | c.6319G>A (p.Gly2107Ser) c.7648G>A (p.Gly2550Ser) c.5851G>A (p.Gly1951Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584910G>C | CA050364 | DSP | c.6319G>C (p.Gly2107Arg) c.7648G>C (p.Gly2550Arg) c.5851G>C (p.Gly1951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584910G= | CA1608612620 | DSP | c.6319G= (p.Gly2107=) c.7648G= (p.Gly2550=) c.5851G= (p.Gly1951=) | |
| 6 | g.7584910G>T | CA362693473 | DSP | c.6319G>T (p.Gly2107Cys) c.7648G>T (p.Gly2550Cys) c.5851G>T (p.Gly1951Cys) | |
| 6 | g.7584911G>A | CA133976369 | DSP | c.6320G>A (p.Gly2107Asp) c.7649G>A (p.Gly2550Asp) c.5852G>A (p.Gly1951Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584911G>C | CA362693474 | DSP | c.6320G>C (p.Gly2107Ala) c.7649G>C (p.Gly2550Ala) c.5852G>C (p.Gly1951Ala) | gnomAD v4 |
| 6 | g.7584911G= | CA1608612630 | DSP | c.6320G= (p.Gly2107=) c.7649G= (p.Gly2550=) c.5852G= (p.Gly1951=) | |
| 6 | g.7584911G>T | CA362693475 | DSP | c.6320G>T (p.Gly2107Val) c.7649G>T (p.Gly2550Val) c.5852G>T (p.Gly1951Val) | COSMIC |
| 6 | g.7584912C>A | CA448716968 | DSP | c.6321C>A (p.Gly2107=) c.7650C>A (p.Gly2550=) c.5853C>A (p.Gly1951=) | |
| 6 | g.7584912C= | CA1608612638 | DSP | c.6321C= (p.Gly2107=) c.7650C= (p.Gly2550=) c.5853C= (p.Gly1951=) | |
| 6 | g.7584912C>G | CA448716972 | DSP | c.6321C>G (p.Gly2107=) c.7650C>G (p.Gly2550=) c.5853C>G (p.Gly1951=) | ClinVar dbSNP |
| 6 | g.7584912C>T | CA050371 | DSP | c.6321C>T (p.Gly2107=) c.7650C>T (p.Gly2550=) c.5853C>T (p.Gly1951=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584913A= | CA1608612648 | DSP | c.6322A= (p.Ser2108=) c.7651A= (p.Ser2551=) c.5854A= (p.Ser1952=) | |
| 6 | g.7584913A>C | CA362693476 | DSP | c.6322A>C (p.Ser2108Arg) c.7651A>C (p.Ser2551Arg) c.5854A>C (p.Ser1952Arg) | |
| 6 | g.7584913A>G | CA362693477 | DSP | c.6322A>G (p.Ser2108Gly) c.7651A>G (p.Ser2551Gly) c.5854A>G (p.Ser1952Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584913A>T | CA362693478 | DSP | c.6322A>T (p.Ser2108Cys) c.7651A>T (p.Ser2551Cys) c.5854A>T (p.Ser1952Cys) | |
| 6 | g.7584914G>A | CA362693479 | DSP | c.6323G>A (p.Ser2108Asn) c.7652G>A (p.Ser2551Asn) c.5855G>A (p.Ser1952Asn) | |
| 6 | g.7584914G>C | CA362693480 | DSP | c.6323G>C (p.Ser2108Thr) c.7652G>C (p.Ser2551Thr) c.5855G>C (p.Ser1952Thr) | |
| 6 | g.7584914G>T | CA362693481 | DSP | c.6323G>T (p.Ser2108Ile) c.7652G>T (p.Ser2551Ile) c.5855G>T (p.Ser1952Ile) | |
| 6 | g.7584915C>A | CA362693482 | DSP | c.6324C>A (p.Ser2108Arg) c.7653C>A (p.Ser2551Arg) c.5856C>A (p.Ser1952Arg) | |
| 6 | g.7584915C= | CA1608612652 | DSP | c.6324C= (p.Ser2108=) c.7653C= (p.Ser2551=) c.5856C= (p.Ser1952=) | |
| 6 | g.7584915C>G | CA362693483 | DSP | c.6324C>G (p.Ser2108Arg) c.7653C>G (p.Ser2551Arg) c.5856C>G (p.Ser1952Arg) | |
| 6 | g.7584915C>T | CA050381 | DSP | c.6324C>T (p.Ser2108=) c.7653C>T (p.Ser2551=) c.5856C>T (p.Ser1952=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584916C>A | CA362693486 | DSP | c.6325C>A (p.Leu2109Ile) c.7654C>A (p.Leu2552Ile) c.5857C>A (p.Leu1953Ile) | |
| 6 | g.7584916C= | CA1608612660 | DSP | c.6325C= (p.Leu2109=) c.7654C= (p.Leu2552=) c.5857C= (p.Leu1953=) | |
| 6 | g.7584916C>G | CA362693485 | DSP | c.6325C>G (p.Leu2109Val) c.7654C>G (p.Leu2552Val) c.5857C>G (p.Leu1953Val) | dbSNP |
| 6 | g.7584916C>T | CA362693484 | DSP | c.6325C>T (p.Leu2109Phe) c.7654C>T (p.Leu2552Phe) c.5857C>T (p.Leu1953Phe) | |
| 6 | g.7584917T>A | CA362693487 | DSP | c.6326T>A (p.Leu2109His) c.7655T>A (p.Leu2552His) c.5858T>A (p.Leu1953His) | |
| 6 | g.7584917T>C | CA362693488 | DSP | c.6326T>C (p.Leu2109Pro) c.7655T>C (p.Leu2552Pro) c.5858T>C (p.Leu1953Pro) | dbSNP |
| 6 | g.7584917T>G | CA362693489 | DSP | c.6326T>G (p.Leu2109Arg) c.7655T>G (p.Leu2552Arg) c.5858T>G (p.Leu1953Arg) | |
| 6 | g.7584917T= | CA1608612663 | DSP | c.6326T= (p.Leu2109=) c.7655T= (p.Leu2552=) c.5858T= (p.Leu1953=) | |
| 6 | g.7584918C>A | CA448716983 | DSP | c.6327C>A (p.Leu2109=) c.7656C>A (p.Leu2552=) c.5859C>A (p.Leu1953=) | |
| 6 | g.7584918C= | CA1608612671 | DSP | c.6327C= (p.Leu2109=) c.7656C= (p.Leu2552=) c.5859C= (p.Leu1953=) | |
| 6 | g.7584918C>G | CA133976376 | DSP | c.6327C>G (p.Leu2109=) c.7656C>G (p.Leu2552=) c.5859C>G (p.Leu1953=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584918C>T | CA448716986 | DSP | c.6327C>T (p.Leu2109=) c.7656C>T (p.Leu2552=) c.5859C>T (p.Leu1953=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584918_7584919dup | CA2578524530 | DSP | c.6327_6328dup (p.Ser2110ThrfsTer9) c.7656_7657dup (p.Ser2553ThrfsTer9) c.5859_5860dup (p.Ser1954ThrfsTer9) | |
| 6 | g.7584919A= | CA1608612684 | DSP | c.6328A= (p.Ser2110=) c.7657A= (p.Ser2553=) c.5860A= (p.Ser1954=) | |
| 6 | g.7584919A>C | CA362693490 | DSP | c.6328A>C (p.Ser2110Arg) c.7657A>C (p.Ser2553Arg) c.5860A>C (p.Ser1954Arg) | |
| 6 | g.7584919A>G | CA133976392 | DSP | c.6328A>G (p.Ser2110Gly) c.7657A>G (p.Ser2553Gly) c.5860A>G (p.Ser1954Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584919A>T | CA362693491 | DSP | c.6328A>T (p.Ser2110Cys) c.7657A>T (p.Ser2553Cys) c.5860A>T (p.Ser1954Cys) | |
| 6 | g.7584920G>A | CA362693492 | DSP | c.6329G>A (p.Ser2110Asn) c.7658G>A (p.Ser2553Asn) c.5861G>A (p.Ser1954Asn) | |
| 6 | g.7584920G>C | CA362693493 | DSP | c.6329G>C (p.Ser2110Thr) c.7658G>C (p.Ser2553Thr) c.5861G>C (p.Ser1954Thr) | |
| 6 | g.7584920G>T | CA362693494 | DSP | c.6329G>T (p.Ser2110Ile) c.7658G>T (p.Ser2553Ile) c.5861G>T (p.Ser1954Ile) | |
| 6 | g.7584921C>A | CA362693495 | DSP | c.6330C>A (p.Ser2110Arg) c.7659C>A (p.Ser2553Arg) c.5862C>A (p.Ser1954Arg) | |
| 6 | g.7584921C>G | CA362693496 | DSP | c.6330C>G (p.Ser2110Arg) c.7659C>G (p.Ser2553Arg) c.5862C>G (p.Ser1954Arg) | |
| 6 | g.7584921C>T | CA448716997 | DSP | c.6330C>T (p.Ser2110=) c.7659C>T (p.Ser2553=) c.5862C>T (p.Ser1954=) | ClinVar |
| 6 | g.7584922C>A | CA362693497 | DSP | c.6331C>A (p.Leu2111Ile) c.7660C>A (p.Leu2554Ile) c.5863C>A (p.Leu1955Ile) | |
| 6 | g.7584922C>G | CA362693498 | DSP | c.6331C>G (p.Leu2111Val) c.7660C>G (p.Leu2554Val) c.5863C>G (p.Leu1955Val) | |
| 6 | g.7584922C>T | CA362693499 | DSP | c.6331C>T (p.Leu2111Phe) c.7660C>T (p.Leu2554Phe) c.5863C>T (p.Leu1955Phe) | |
| 6 | g.7584923T>A | CA362693502 | DSP | c.6332T>A (p.Leu2111His) c.7661T>A (p.Leu2554His) c.5864T>A (p.Leu1955His) | |
| 6 | g.7584923T>C | CA362693501 | DSP | c.6332T>C (p.Leu2111Pro) c.7661T>C (p.Leu2554Pro) c.5864T>C (p.Leu1955Pro) | |
| 6 | g.7584923T>G | CA362693500 | DSP | c.6332T>G (p.Leu2111Arg) c.7661T>G (p.Leu2554Arg) c.5864T>G (p.Leu1955Arg) | |
| 6 | g.7584924del | CA2580075378 | DSP | c.6333del (p.Thr2112LeufsTer6) c.7662del (p.Thr2555LeufsTer6) c.5865del (p.Thr1956LeufsTer6) | ClinVar |
| 6 | g.7584924C>A | CA448717003 | DSP | c.6333C>A (p.Leu2111=) c.7662C>A (p.Leu2554=) c.5865C>A (p.Leu1955=) | |
| 6 | g.7584924C>G | CA448717004 | DSP | c.6333C>G (p.Leu2111=) c.7662C>G (p.Leu2554=) c.5865C>G (p.Leu1955=) | |
| 6 | g.7584924C>T | CA448717006 | DSP | c.6333C>T (p.Leu2111=) c.7662C>T (p.Leu2554=) c.5865C>T (p.Leu1955=) | |
| 6 | g.7584925A>C | CA362693503 | DSP | c.6334A>C (p.Thr2112Pro) c.7663A>C (p.Thr2555Pro) c.5866A>C (p.Thr1956Pro) | |
| 6 | g.7584925A>G | CA362693504 | DSP | c.6334A>G (p.Thr2112Ala) c.7663A>G (p.Thr2555Ala) c.5866A>G (p.Thr1956Ala) | |
| 6 | g.7584925A>T | CA362693505 | DSP | c.6334A>T (p.Thr2112Ser) c.7663A>T (p.Thr2555Ser) c.5866A>T (p.Thr1956Ser) | |
| 6 | g.7584926C>A | CA362693506 | DSP | c.6335C>A (p.Thr2112Asn) c.7664C>A (p.Thr2555Asn) c.5867C>A (p.Thr1956Asn) | |
| 6 | g.7584926C= | CA1608612696 | DSP | c.6335C= (p.Thr2112=) c.7664C= (p.Thr2555=) c.5867C= (p.Thr1956=) | |
| 6 | g.7584926C>G | CA362693507 | DSP | c.6335C>G (p.Thr2112Ser) c.7664C>G (p.Thr2555Ser) c.5867C>G (p.Thr1956Ser) | gnomAD v4 |
| 6 | g.7584926C>T | CA050411 | DSP | c.6335C>T (p.Thr2112Ile) c.7664C>T (p.Thr2555Ile) c.5867C>T (p.Thr1956Ile) | dbSNP ExAC |
| 6 | g.7584927T>A | CA448717015 | DSP | c.6336T>A (p.Thr2112=) c.7665T>A (p.Thr2555=) c.5868T>A (p.Thr1956=) | |
| 6 | g.7584927T>C | CA448717014 | DSP | c.6336T>C (p.Thr2112=) c.7665T>C (p.Thr2555=) c.5868T>C (p.Thr1956=) | gnomAD v4 |
| 6 | g.7584927T>G | CA448717013 | DSP | c.6336T>G (p.Thr2112=) c.7665T>G (p.Thr2555=) c.5868T>G (p.Thr1956=) | |
| 6 | g.7584928C>A | CA362693510 | DSP | c.6337C>A (p.Gln2113Lys) c.7666C>A (p.Gln2556Lys) c.5869C>A (p.Gln1957Lys) | |
| 6 | g.7584928C>G | CA362693508 | DSP | c.6337C>G (p.Gln2113Glu) c.7666C>G (p.Gln2556Glu) c.5869C>G (p.Gln1957Glu) | |
| 6 | g.7584928C>T | CA362693509 | DSP | c.6337C>T (p.Gln2113Ter) c.7666C>T (p.Gln2556Ter) c.5869C>T (p.Gln1957Ter) | |
| 6 | g.7584929A= | CA1608612713 | DSP | c.6338A= (p.Gln2113=) c.7667A= (p.Gln2556=) c.5870A= (p.Gln1957=) | |
| 6 | g.7584929A>C | CA362693511 | DSP | c.6338A>C (p.Gln2113Pro) c.7667A>C (p.Gln2556Pro) c.5870A>C (p.Gln1957Pro) | |
| 6 | g.7584929A>G | CA362693512 | DSP | c.6338A>G (p.Gln2113Arg) c.7667A>G (p.Gln2556Arg) c.5870A>G (p.Gln1957Arg) | |
| 6 | g.7584929A>T | CA133976393 | DSP | c.6338A>T (p.Gln2113Leu) c.7667A>T (p.Gln2556Leu) c.5870A>T (p.Gln1957Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584930A= | CA1608612722 | DSP | c.6339A= (p.Gln2113=) c.7668A= (p.Gln2556=) c.5871A= (p.Gln1957=) | |
| 6 | g.7584930A>C | CA362693513 | DSP | c.6339A>C (p.Gln2113His) c.7668A>C (p.Gln2556His) c.5871A>C (p.Gln1957His) | |
| 6 | g.7584930A>G | CA448717019 | DSP | c.6339A>G (p.Gln2113=) c.7668A>G (p.Gln2556=) c.5871A>G (p.Gln1957=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584930A>T | CA362693514 | DSP | c.6339A>T (p.Gln2113His) c.7668A>T (p.Gln2556His) c.5871A>T (p.Gln1957His) | |
| 6 | g.7584931T>A | CA362693515 | DSP | c.6340T>A (p.Phe2114Ile) c.7669T>A (p.Phe2557Ile) c.5872T>A (p.Phe1958Ile) | |
| 6 | g.7584931T>C | CA362693517 | DSP | c.6340T>C (p.Phe2114Leu) c.7669T>C (p.Phe2557Leu) c.5872T>C (p.Phe1958Leu) | |
| 6 | g.7584931T>G | CA362693516 | DSP | c.6340T>G (p.Phe2114Val) c.7669T>G (p.Phe2557Val) c.5872T>G (p.Phe1958Val) | gnomAD v4 |
| 6 | g.7584932T>A | CA362693518 | DSP | c.6341T>A (p.Phe2114Tyr) c.7670T>A (p.Phe2557Tyr) c.5873T>A (p.Phe1958Tyr) | |
| 6 | g.7584932T>C | CA362693519 | DSP | c.6341T>C (p.Phe2114Ser) c.7670T>C (p.Phe2557Ser) c.5873T>C (p.Phe1958Ser) | |
| 6 | g.7584932T>G | CA362693520 | DSP | c.6341T>G (p.Phe2114Cys) c.7670T>G (p.Phe2557Cys) c.5873T>G (p.Phe1958Cys) | |
| 6 | g.7584933T>A | CA362693521 | DSP | c.6342T>A (p.Phe2114Leu) c.7671T>A (p.Phe2557Leu) c.5874T>A (p.Phe1958Leu) | |
| 6 | g.7584933T>C | CA448717024 | DSP | c.6342T>C (p.Phe2114=) c.7671T>C (p.Phe2557=) c.5874T>C (p.Phe1958=) | |
| 6 | g.7584933T>G | CA362693522 | DSP | c.6342T>G (p.Phe2114Leu) c.7671T>G (p.Phe2557Leu) c.5874T>G (p.Phe1958Leu) | |
| 6 | g.7584934G>A | CA362693523 | DSP | c.6343G>A (p.Ala2115Thr) c.7672G>A (p.Ala2558Thr) c.5875G>A (p.Ala1959Thr) | |
| 6 | g.7584934G>C | CA362693524 | DSP | c.6343G>C (p.Ala2115Pro) c.7672G>C (p.Ala2558Pro) c.5875G>C (p.Ala1959Pro) | |
| 6 | g.7584934G>T | CA362693525 | DSP | c.6343G>T (p.Ala2115Ser) c.7672G>T (p.Ala2558Ser) c.5875G>T (p.Ala1959Ser) | |
| 6 | g.7584935C>A | CA362693526 | DSP | c.6344C>A (p.Ala2115Asp) c.7673C>A (p.Ala2558Asp) c.5876C>A (p.Ala1959Asp) | |
| 6 | g.7584935C>G | CA362693527 | DSP | c.6344C>G (p.Ala2115Gly) c.7673C>G (p.Ala2558Gly) c.5876C>G (p.Ala1959Gly) | |
| 6 | g.7584935C>T | CA362693528 | DSP | c.6344C>T (p.Ala2115Val) c.7673C>T (p.Ala2558Val) c.5876C>T (p.Ala1959Val) | |
| 6 | g.7584936T>A | CA448717031 | DSP | c.6345T>A (p.Ala2115=) c.7674T>A (p.Ala2558=) c.5877T>A (p.Ala1959=) | COSMIC |
| 6 | g.7584936T>C | CA448717032 | DSP | c.6345T>C (p.Ala2115=) c.7674T>C (p.Ala2558=) c.5877T>C (p.Ala1959=) | |
| 6 | g.7584936T>G | CA448717034 | DSP | c.6345T>G (p.Ala2115=) c.7674T>G (p.Ala2558=) c.5877T>G (p.Ala1959=) | |
| 6 | g.7584937G>A | CA362693531 | DSP | c.6346G>A (p.Asp2116Asn) c.7675G>A (p.Asp2559Asn) c.5878G>A (p.Asp1960Asn) | ClinVar dbSNP |
| 6 | g.7584937G>C | CA362693529 | DSP | c.6346G>C (p.Asp2116His) c.7675G>C (p.Asp2559His) c.5878G>C (p.Asp1960His) | |
| 6 | g.7584937G>T | CA362693530 | DSP | c.6346G>T (p.Asp2116Tyr) c.7675G>T (p.Asp2559Tyr) c.5878G>T (p.Asp1960Tyr) | |
| 6 | g.7584938A>C | CA362693532 | DSP | c.6347A>C (p.Asp2116Ala) c.7676A>C (p.Asp2559Ala) c.5879A>C (p.Asp1960Ala) | |
| 6 | g.7584938A>G | CA362693533 | DSP | c.6347A>G (p.Asp2116Gly) c.7676A>G (p.Asp2559Gly) c.5879A>G (p.Asp1960Gly) | |
| 6 | g.7584938A>T | CA362693534 | DSP | c.6347A>T (p.Asp2116Val) c.7676A>T (p.Asp2559Val) c.5879A>T (p.Asp1960Val) | |
| 6 | g.7584939C>A | CA362693535 | DSP | c.6348C>A (p.Asp2116Glu) c.7677C>A (p.Asp2559Glu) c.5880C>A (p.Asp1960Glu) | |
| 6 | g.7584939C>G | CA362693536 | DSP | c.6348C>G (p.Asp2116Glu) c.7677C>G (p.Asp2559Glu) c.5880C>G (p.Asp1960Glu) | |
| 6 | g.7584939C>T | CA448717046 | DSP | c.6348C>T (p.Asp2116=) c.7677C>T (p.Asp2559=) c.5880C>T (p.Asp1960=) | gnomAD v4 |
| 6 | g.7584940A= | CA1608612732 | DSP | c.6349A= (p.Met2117=) c.7678A= (p.Met2560=) c.5881A= (p.Met1961=) | |
| 6 | g.7584940A>C | CA362693538 | DSP | c.6349A>C (p.Met2117Leu) c.7678A>C (p.Met2560Leu) c.5881A>C (p.Met1961Leu) | gnomAD v4 |
| 6 | g.7584940A>G | CA050425 | DSP | c.6349A>G (p.Met2117Val) c.7678A>G (p.Met2560Val) c.5881A>G (p.Met1961Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584940A>T | CA362693537 | DSP | c.6349A>T (p.Met2117Leu) c.7678A>T (p.Met2560Leu) c.5881A>T (p.Met1961Leu) | |
| 6 | g.7584941T>A | CA362693539 | DSP | c.6350T>A (p.Met2117Lys) c.7679T>A (p.Met2560Lys) c.5882T>A (p.Met1961Lys) | |
| 6 | g.7584941T>C | CA050441 | DSP | c.6350T>C (p.Met2117Thr) c.7679T>C (p.Met2560Thr) c.5882T>C (p.Met1961Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584941T>G | CA362693540 | DSP | c.6350T>G (p.Met2117Arg) c.7679T>G (p.Met2560Arg) c.5882T>G (p.Met1961Arg) | |
| 6 | g.7584941T= | CA1608612734 | DSP | c.6350T= (p.Met2117=) c.7679T= (p.Met2560=) c.5882T= (p.Met1961=) | |
| 6 | g.7584942G>A | CA362693541 | DSP | c.6351G>A (p.Met2117Ile) c.7680G>A (p.Met2560Ile) c.5883G>A (p.Met1961Ile) | |
| 6 | g.7584942G>C | CA362693542 | DSP | c.6351G>C (p.Met2117Ile) c.7680G>C (p.Met2560Ile) c.5883G>C (p.Met1961Ile) | |
| 6 | g.7584942G>T | CA362693543 | DSP | c.6351G>T (p.Met2117Ile) c.7680G>T (p.Met2560Ile) c.5883G>T (p.Met1961Ile) | |
| 6 | g.7584943A>C | CA362693546 | DSP | c.6352A>C (p.Ile2118Leu) c.7681A>C (p.Ile2561Leu) c.5884A>C (p.Ile1962Leu) | |
| 6 | g.7584943A>G | CA362693544 | DSP | c.6352A>G (p.Ile2118Val) c.7681A>G (p.Ile2561Val) c.5884A>G (p.Ile1962Val) | |
| 6 | g.7584943A>T | CA362693545 | DSP | c.6352A>T (p.Ile2118Phe) c.7681A>T (p.Ile2561Phe) c.5884A>T (p.Ile1962Phe) | |
| 6 | g.7584944T>A | CA362693547 | DSP | c.6353T>A (p.Ile2118Asn) c.7682T>A (p.Ile2561Asn) c.5885T>A (p.Ile1962Asn) | dbSNP |
| 6 | g.7584944T>C | CA362693548 | DSP | c.6353T>C (p.Ile2118Thr) c.7682T>C (p.Ile2561Thr) c.5885T>C (p.Ile1962Thr) | |
| 6 | g.7584944T>G | CA362693549 | DSP | c.6353T>G (p.Ile2118Ser) c.7682T>G (p.Ile2561Ser) c.5885T>G (p.Ile1962Ser) | |
| 6 | g.7584944T= | CA1608612738 | DSP | c.6353T= (p.Ile2118=) c.7682T= (p.Ile2561=) c.5885T= (p.Ile1962=) | |
| 6 | g.7584944_7584947delinsTCTC | CA1608612740 | DSP | c.6353_6356delinsTCTC (p.Ile2118=) c.7682_7685delinsTCTC (p.Ile2561=) c.5885_5888delinsTCTC (p.Ile1962=) | |
| 6 | g.7584945C>A | CA448717057 | DSP | c.6354C>A (p.Ile2118=) c.7683C>A (p.Ile2561=) c.5886C>A (p.Ile1962=) | |
| 6 | g.7584945C>G | CA362693550 | DSP | c.6354C>G (p.Ile2118Met) c.7683C>G (p.Ile2561Met) c.5886C>G (p.Ile1962Met) | |
| 6 | g.7584945C>T | CA448717059 | DSP | c.6354C>T (p.Ile2118=) c.7683C>T (p.Ile2561=) c.5886C>T (p.Ile1962=) | |
| 6 | g.7584947_7584949del | CA050453 | DSP | c.6356_6358del (p.Ser2119del) c.7685_7687del (p.Ser2562del) c.5888_5890del (p.Ser1963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584946T>A | CA362693551 | DSP | c.6355T>A (p.Ser2119Thr) c.7684T>A (p.Ser2562Thr) c.5887T>A (p.Ser1963Thr) | |
| 6 | g.7584946T>C | CA362693552 | DSP | c.6355T>C (p.Ser2119Pro) c.7684T>C (p.Ser2562Pro) c.5887T>C (p.Ser1963Pro) | ClinVar gnomAD v4 |
| 6 | g.7584946T>G | CA362693553 | DSP | c.6355T>G (p.Ser2119Ala) c.7684T>G (p.Ser2562Ala) c.5887T>G (p.Ser1963Ala) | ClinVar |
| 6 | g.7584947C>A | CA362693554 | DSP | c.6356C>A (p.Ser2119Tyr) c.7685C>A (p.Ser2562Tyr) c.5888C>A (p.Ser1963Tyr) | |
| 6 | g.7584947C>G | CA362693555 | DSP | c.6356C>G (p.Ser2119Cys) c.7685C>G (p.Ser2562Cys) c.5888C>G (p.Ser1963Cys) | |
| 6 | g.7584947C>T | CA362693556 | DSP | c.6356C>T (p.Ser2119Phe) c.7685C>T (p.Ser2562Phe) c.5888C>T (p.Ser1963Phe) | |
| 6 | g.7584948C>A | CA448717066 | DSP | c.6357C>A (p.Ser2119=) c.7686C>A (p.Ser2562=) c.5889C>A (p.Ser1963=) | |
| 6 | g.7584948C>G | CA448717069 | DSP | c.6357C>G (p.Ser2119=) c.7686C>G (p.Ser2562=) c.5889C>G (p.Ser1963=) | |
| 6 | g.7584948C>T | CA448717070 | DSP | c.6357C>T (p.Ser2119=) c.7686C>T (p.Ser2562=) c.5889C>T (p.Ser1963=) | gnomAD v4 |
| 6 | g.7584949T>A | CA362693557 | DSP | c.6358T>A (p.Leu2120Met) c.7687T>A (p.Leu2563Met) c.5890T>A (p.Leu1964Met) | |
| 6 | g.7584949T>C | CA448717073 | DSP | c.6358T>C (p.Leu2120=) c.7687T>C (p.Leu2563=) c.5890T>C (p.Leu1964=) | |
| 6 | g.7584949T>G | CA362693558 | DSP | c.6358T>G (p.Leu2120Val) c.7687T>G (p.Leu2563Val) c.5890T>G (p.Leu1964Val) | |
| 6 | g.7584950T>A | CA362693559 | DSP | c.6359T>A (p.Leu2120Ter) c.7688T>A (p.Leu2563Ter) c.5891T>A (p.Leu1964Ter) | |
| 6 | g.7584950T>C | CA362693561 | DSP | c.6359T>C (p.Leu2120Ser) c.7688T>C (p.Leu2563Ser) c.5891T>C (p.Leu1964Ser) | |
| 6 | g.7584950T>G | CA362693560 | DSP | c.6359T>G (p.Leu2120Trp) c.7688T>G (p.Leu2563Trp) c.5891T>G (p.Leu1964Trp) | |
| 6 | g.7584950T= | CA1608612751 | DSP | c.6359T= (p.Leu2120=) c.7688T= (p.Leu2563=) c.5891T= (p.Leu1964=) | |
| 6 | g.7584951G>A | CA448717074 | DSP | c.6360G>A (p.Leu2120=) c.7689G>A (p.Leu2563=) c.5892G>A (p.Leu1964=) | dbSNP |
| 6 | g.7584951G>C | CA362693562 | DSP | c.6360G>C (p.Leu2120Phe) c.7689G>C (p.Leu2563Phe) c.5892G>C (p.Leu1964Phe) | ClinVar |
| 6 | g.7584951G= | CA1608612756 | DSP | c.6360G= (p.Leu2120=) c.7689G= (p.Leu2563=) c.5892G= (p.Leu1964=) | |
| 6 | g.7584951G>T | CA362693563 | DSP | c.6360G>T (p.Leu2120Phe) c.7689G>T (p.Leu2563Phe) c.5892G>T (p.Leu1964Phe) | |
| 6 | g.7584951_7584956dup | CA16612051 | DSP | c.6360_6365dup (p.Lys2121_Asn2122insLysLys) c.7689_7694dup (p.Lys2564_Asn2565insLysLys) c.5892_5897dup (p.Lys1965_Asn1966insLysLys) | ClinVar dbSNP |
| 6 | g.7584952A>C | CA362693564 | DSP | c.6361A>C (p.Lys2121Gln) c.7690A>C (p.Lys2564Gln) c.5893A>C (p.Lys1965Gln) | |
| 6 | g.7584952A>G | CA362693565 | DSP | c.6361A>G (p.Lys2121Glu) c.7690A>G (p.Lys2564Glu) c.5893A>G (p.Lys1965Glu) | |
| 6 | g.7584952A>T | CA362693566 | DSP | c.6361A>T (p.Lys2121Ter) c.7690A>T (p.Lys2564Ter) c.5893A>T (p.Lys1965Ter) | |
| 6 | g.7584953A>C | CA362693567 | DSP | c.6362A>C (p.Lys2121Thr) c.7691A>C (p.Lys2564Thr) c.5894A>C (p.Lys1965Thr) | |
| 6 | g.7584953A>G | CA362693568 | DSP | c.6362A>G (p.Lys2121Arg) c.7691A>G (p.Lys2564Arg) c.5894A>G (p.Lys1965Arg) | |
| 6 | g.7584953A>T | CA362693569 | DSP | c.6362A>T (p.Lys2121Ile) c.7691A>T (p.Lys2564Ile) c.5894A>T (p.Lys1965Ile) | |
| 6 | g.7584954A= | CA1608612762 | DSP | c.6363A= (p.Lys2121=) c.7692A= (p.Lys2564=) c.5895A= (p.Lys1965=) | |
| 6 | g.7584954A>C | CA362693570 | DSP | c.6363A>C (p.Lys2121Asn) c.7692A>C (p.Lys2564Asn) c.5895A>C (p.Lys1965Asn) | dbSNP |
| 6 | g.7584954A>G | CA448717081 | DSP | c.6363A>G (p.Lys2121=) c.7692A>G (p.Lys2564=) c.5895A>G (p.Lys1965=) | |
| 6 | g.7584954A>T | CA362693571 | DSP | c.6363A>T (p.Lys2121Asn) c.7692A>T (p.Lys2564Asn) c.5895A>T (p.Lys1965Asn) | |
| 6 | g.7584955A= | CA1608612773 | DSP | c.6364A= (p.Asn2122=) c.7693A= (p.Asn2565=) c.5896A= (p.Asn1966=) | |
| 6 | g.7584955A>C | CA362693572 | DSP | c.6364A>C (p.Asn2122His) c.7693A>C (p.Asn2565His) c.5896A>C (p.Asn1966His) | |
| 6 | g.7584955A>G | CA362693573 | DSP | c.6364A>G (p.Asn2122Asp) c.7693A>G (p.Asn2565Asp) c.5896A>G (p.Asn1966Asp) | |
| 6 | g.7584955A>T | CA362693574 | DSP | c.6364A>T (p.Asn2122Tyr) c.7693A>T (p.Asn2565Tyr) c.5896A>T (p.Asn1966Tyr) | dbSNP |
| 6 | g.7584956A= | CA1608612782 | DSP | c.6365A= (p.Asn2122=) c.7694A= (p.Asn2565=) c.5897A= (p.Asn1966=) | |
| 6 | g.7584956A>C | CA050463 | DSP | c.6365A>C (p.Asn2122Thr) c.7694A>C (p.Asn2565Thr) c.5897A>C (p.Asn1966Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584956A>G | CA362693575 | DSP | c.6365A>G (p.Asn2122Ser) c.7694A>G (p.Asn2565Ser) c.5897A>G (p.Asn1966Ser) | |
| 6 | g.7584956A>T | CA362693576 | DSP | c.6365A>T (p.Asn2122Ile) c.7694A>T (p.Asn2565Ile) c.5897A>T (p.Asn1966Ile) | |
| 6 | g.7584957T>A | CA362693577 | DSP | c.6366T>A (p.Asn2122Lys) c.7695T>A (p.Asn2565Lys) c.5898T>A (p.Asn1966Lys) | |
| 6 | g.7584957T>C | CA448717086 | DSP | c.6366T>C (p.Asn2122=) c.7695T>C (p.Asn2565=) c.5898T>C (p.Asn1966=) | dbSNP |
| 6 | g.7584957T>G | CA362693578 | DSP | c.6366T>G (p.Asn2122Lys) c.7695T>G (p.Asn2565Lys) c.5898T>G (p.Asn1966Lys) | |
| 6 | g.7584957T= | CA1608612796 | DSP | c.6366T= (p.Asn2122=) c.7695T= (p.Asn2565=) c.5898T= (p.Asn1966=) | |
| 6 | g.7584958G>A | CA362693579 | DSP | c.6367G>A (p.Gly2123Ser) c.7696G>A (p.Gly2566Ser) c.5899G>A (p.Gly1967Ser) | |
| 6 | g.7584958G>C | CA362693580 | DSP | c.6367G>C (p.Gly2123Arg) c.7696G>C (p.Gly2566Arg) c.5899G>C (p.Gly1967Arg) | dbSNP |
| 6 | g.7584958G= | CA1608612806 | DSP | c.6367G= (p.Gly2123=) c.7696G= (p.Gly2566=) c.5899G= (p.Gly1967=) | |
| 6 | g.7584958G>T | CA362693581 | DSP | c.6367G>T (p.Gly2123Cys) c.7696G>T (p.Gly2566Cys) c.5899G>T (p.Gly1967Cys) | dbSNP |
| 6 | g.7584959dup | CA2695206016 | DSP | c.6368dup (p.Val2124CysfsTer14) c.7697dup (p.Val2567CysfsTer14) c.5900dup (p.Val1968CysfsTer14) | |
| 6 | g.7584959G>A | CA362693582 | DSP | c.6368G>A (p.Gly2123Asp) c.7697G>A (p.Gly2566Asp) c.5900G>A (p.Gly1967Asp) | gnomAD v4 |
| 6 | g.7584959G>C | CA362693583 | DSP | c.6368G>C (p.Gly2123Ala) c.7697G>C (p.Gly2566Ala) c.5900G>C (p.Gly1967Ala) | |
| 6 | g.7584959G>T | CA362693584 | DSP | c.6368G>T (p.Gly2123Val) c.7697G>T (p.Gly2566Val) c.5900G>T (p.Gly1967Val) | |
| 6 | g.7584960T>A | CA448717089 | DSP | c.6369T>A (p.Gly2123=) c.7698T>A (p.Gly2566=) c.5901T>A (p.Gly1967=) | |
| 6 | g.7584960T>C | CA448717092 | DSP | c.6369T>C (p.Gly2123=) c.7698T>C (p.Gly2566=) c.5901T>C (p.Gly1967=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7584960T>G | CA448717090 | DSP | c.6369T>G (p.Gly2123=) c.7698T>G (p.Gly2566=) c.5901T>G (p.Gly1967=) | |
| 6 | g.7584960T= | CA1608612812 | DSP | c.6369T= (p.Gly2123=) c.7698T= (p.Gly2566=) c.5901T= (p.Gly1967=) | |
| 6 | g.7584961G>A | CA362693585 | DSP | c.6370G>A (p.Val2124Ile) c.7699G>A (p.Val2567Ile) c.5902G>A (p.Val1968Ile) | dbSNP gnomAD v4 |
| 6 | g.7584961G>C | CA362693586 | DSP | c.6370G>C (p.Val2124Leu) c.7699G>C (p.Val2567Leu) c.5902G>C (p.Val1968Leu) | |
| 6 | g.7584961G= | CA1608612820 | DSP | c.6370G= (p.Val2124=) c.7699G= (p.Val2567=) c.5902G= (p.Val1968=) | |
| 6 | g.7584961G>T | CA362693587 | DSP | c.6370G>T (p.Val2124Phe) c.7699G>T (p.Val2567Phe) c.5902G>T (p.Val1968Phe) | |
| 6 | g.7584962T>A | CA362693588 | DSP | c.6371T>A (p.Val2124Asp) c.7700T>A (p.Val2567Asp) c.5903T>A (p.Val1968Asp) | |
| 6 | g.7584962T>C | CA362693590 | DSP | c.6371T>C (p.Val2124Ala) c.7700T>C (p.Val2567Ala) c.5903T>C (p.Val1968Ala) | |
| 6 | g.7584962T>G | CA362693589 | DSP | c.6371T>G (p.Val2124Gly) c.7700T>G (p.Val2567Gly) c.5903T>G (p.Val1968Gly) | |
| 6 | g.7584963C>A | CA448717094 | DSP | c.6372C>A (p.Val2124=) c.7701C>A (p.Val2567=) c.5904C>A (p.Val1968=) | |
| 6 | g.7584963C= | CA1608612827 | DSP | c.6372C= (p.Val2124=) c.7701C= (p.Val2567=) c.5904C= (p.Val1968=) | |
| 6 | g.7584963C>G | CA448717095 | DSP | c.6372C>G (p.Val2124=) c.7701C>G (p.Val2567=) c.5904C>G (p.Val1968=) | ClinVar gnomAD v4 |
| 6 | g.7584963C>T | CA050472 | DSP | c.6372C>T (p.Val2124=) c.7701C>T (p.Val2567=) c.5904C>T (p.Val1968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584964G>A | CA050483 | DSP | c.6373G>A (p.Gly2125Ser) c.7702G>A (p.Gly2568Ser) c.5905G>A (p.Gly1969Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584964G>C | CA362693591 | DSP | c.6373G>C (p.Gly2125Arg) c.7702G>C (p.Gly2568Arg) c.5905G>C (p.Gly1969Arg) | gnomAD v4 |
| 6 | g.7584964G= | CA1608612839 | DSP | c.6373G= (p.Gly2125=) c.7702G= (p.Gly2568=) c.5905G= (p.Gly1969=) | |
| 6 | g.7584964G>T | CA362693592 | DSP | c.6373G>T (p.Gly2125Cys) c.7702G>T (p.Gly2568Cys) c.5905G>T (p.Gly1969Cys) | dbSNP gnomAD v4 |
| 6 | g.7584965G>A | CA362693593 | DSP | c.6374G>A (p.Gly2125Asp) c.7703G>A (p.Gly2568Asp) c.5906G>A (p.Gly1969Asp) | |
| 6 | g.7584965G>C | CA362693594 | DSP | c.6374G>C (p.Gly2125Ala) c.7703G>C (p.Gly2568Ala) c.5906G>C (p.Gly1969Ala) | |
| 6 | g.7584965G>T | CA362693595 | DSP | c.6374G>T (p.Gly2125Val) c.7703G>T (p.Gly2568Val) c.5906G>T (p.Gly1969Val) | |
| 6 | g.7584966C>A | CA448717106 | DSP | c.6375C>A (p.Gly2125=) c.7704C>A (p.Gly2568=) c.5907C>A (p.Gly1969=) | |
| 6 | g.7584966C>G | CA448717107 | DSP | c.6375C>G (p.Gly2125=) c.7704C>G (p.Gly2568=) c.5907C>G (p.Gly1969=) | |
| 6 | g.7584966C>T | CA448717108 | DSP | c.6375C>T (p.Gly2125=) c.7704C>T (p.Gly2568=) c.5907C>T (p.Gly1969=) | |
| 6 | g.7584967A>C | CA362693596 | DSP | c.6376A>C (p.Thr2126Pro) c.7705A>C (p.Thr2569Pro) c.5908A>C (p.Thr1970Pro) | gnomAD v4 |
| 6 | g.7584967A>G | CA362693597 | DSP | c.6376A>G (p.Thr2126Ala) c.7705A>G (p.Thr2569Ala) c.5908A>G (p.Thr1970Ala) | |
| 6 | g.7584967A>T | CA362693598 | DSP | c.6376A>T (p.Thr2126Ser) c.7705A>T (p.Thr2569Ser) c.5908A>T (p.Thr1970Ser) | |
| 6 | g.7584968C>A | CA362693599 | DSP | c.6377C>A (p.Thr2126Asn) c.7706C>A (p.Thr2569Asn) c.5909C>A (p.Thr1970Asn) | ClinVar gnomAD v4 |
| 6 | g.7584968C= | CA1608612849 | DSP | c.6377C= (p.Thr2126=) c.7706C= (p.Thr2569=) c.5909C= (p.Thr1970=) | |
| 6 | g.7584968C>G | CA362693600 | DSP | c.6377C>G (p.Thr2126Ser) c.7706C>G (p.Thr2569Ser) c.5909C>G (p.Thr1970Ser) | |
| 6 | g.7584968C>T | CA050493 | DSP | c.6377C>T (p.Thr2126Ile) c.7706C>T (p.Thr2569Ile) c.5909C>T (p.Thr1970Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584969C>A | CA448717116 | DSP | c.6378C>A (p.Thr2126=) c.7707C>A (p.Thr2569=) c.5910C>A (p.Thr1970=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584969C= | CA1608612858 | DSP | c.6378C= (p.Thr2126=) c.7707C= (p.Thr2569=) c.5910C= (p.Thr1970=) | |
| 6 | g.7584969C>G | CA448717118 | DSP | c.6378C>G (p.Thr2126=) c.7707C>G (p.Thr2569=) c.5910C>G (p.Thr1970=) | |
| 6 | g.7584969C>T | CA448717119 | DSP | c.6378C>T (p.Thr2126=) c.7707C>T (p.Thr2569=) c.5910C>T (p.Thr1970=) | COSMIC |
| 6 | g.7584977_7584979dup | CA2677220612 | DSP | c.6386_6388dup (p.Ser2129_Met2130insSer) c.7715_7717dup (p.Ser2572_Met2573insSer) c.5918_5920dup (p.Ser1973_Met1974insSer) | gnomAD v4 |
| 6 | g.7584970A= | CA1608612863 | DSP | c.6379A= (p.Ser2127=) c.7708A= (p.Ser2570=) c.5911A= (p.Ser1971=) | |
| 6 | g.7584970A>C | CA362693601 | DSP | c.6379A>C (p.Ser2127Arg) c.7708A>C (p.Ser2570Arg) c.5911A>C (p.Ser1971Arg) | |
| 6 | g.7584970A>G | CA362693602 | DSP | c.6379A>G (p.Ser2127Gly) c.7708A>G (p.Ser2570Gly) c.5911A>G (p.Ser1971Gly) | ClinVar dbSNP |
| 6 | g.7584970A>T | CA362693603 | DSP | c.6379A>T (p.Ser2127Cys) c.7708A>T (p.Ser2570Cys) c.5911A>T (p.Ser1971Cys) | |
| 6 | g.7584971G>A | CA362693604 | DSP | c.6380G>A (p.Ser2127Asn) c.7709G>A (p.Ser2570Asn) c.5912G>A (p.Ser1971Asn) | |
| 6 | g.7584971G>C | CA362693606 | DSP | c.6380G>C (p.Ser2127Thr) c.7709G>C (p.Ser2570Thr) c.5912G>C (p.Ser1971Thr) | COSMIC |
| 6 | g.7584971G>T | CA362693605 | DSP | c.6380G>T (p.Ser2127Ile) c.7709G>T (p.Ser2570Ile) c.5912G>T (p.Ser1971Ile) | |
| 6 | g.7584972C>A | CA362693607 | DSP | c.6381C>A (p.Ser2127Arg) c.7710C>A (p.Ser2570Arg) c.5913C>A (p.Ser1971Arg) | |
| 6 | g.7584972C>G | CA362693608 | DSP | c.6381C>G (p.Ser2127Arg) c.7710C>G (p.Ser2570Arg) c.5913C>G (p.Ser1971Arg) | |
| 6 | g.7584972C>T | CA448716294 | DSP | c.6381C>T (p.Ser2127=) c.7710C>T (p.Ser2570=) c.5913C>T (p.Ser1971=) | |
| 6 | g.7584973A>C | CA362693609 | DSP | c.6382A>C (p.Ser2128Arg) c.7711A>C (p.Ser2571Arg) c.5914A>C (p.Ser1972Arg) | |
| 6 | g.7584973A>G | CA362693610 | DSP | c.6382A>G (p.Ser2128Gly) c.7711A>G (p.Ser2571Gly) c.5914A>G (p.Ser1972Gly) | |
| 6 | g.7584973A>T | CA362693611 | DSP | c.6382A>T (p.Ser2128Cys) c.7711A>T (p.Ser2571Cys) c.5914A>T (p.Ser1972Cys) | |
| 6 | g.7584974G>A | CA362693612 | DSP | c.6383G>A (p.Ser2128Asn) c.7712G>A (p.Ser2571Asn) c.5915G>A (p.Ser1972Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584974G>C | CA362693613 | DSP | c.6383G>C (p.Ser2128Thr) c.7712G>C (p.Ser2571Thr) c.5915G>C (p.Ser1972Thr) | |
| 6 | g.7584974G= | CA1608612867 | DSP | c.6383G= (p.Ser2128=) c.7712G= (p.Ser2571=) c.5915G= (p.Ser1972=) | |
| 6 | g.7584974G>T | CA362693614 | DSP | c.6383G>T (p.Ser2128Ile) c.7712G>T (p.Ser2571Ile) c.5915G>T (p.Ser1972Ile) | |
| 6 | g.7584975C>A | CA362693615 | DSP | c.6384C>A (p.Ser2128Arg) c.7713C>A (p.Ser2571Arg) c.5916C>A (p.Ser1972Arg) | |
| 6 | g.7584975C>G | CA362693616 | DSP | c.6384C>G (p.Ser2128Arg) c.7713C>G (p.Ser2571Arg) c.5916C>G (p.Ser1972Arg) | ClinVar dbSNP |
| 6 | g.7584975C>T | CA448716308 | DSP | c.6384C>T (p.Ser2128=) c.7713C>T (p.Ser2571=) c.5916C>T (p.Ser1972=) | gnomAD v4 |
| 6 | g.7584976A>C | CA362693618 | DSP | c.6385A>C (p.Ser2129Arg) c.7714A>C (p.Ser2572Arg) c.5917A>C (p.Ser1973Arg) | |
| 6 | g.7584976A>G | CA362693619 | DSP | c.6385A>G (p.Ser2129Gly) c.7714A>G (p.Ser2572Gly) c.5917A>G (p.Ser1973Gly) | gnomAD v4 |
| 6 | g.7584976A>T | CA362693617 | DSP | c.6385A>T (p.Ser2129Cys) c.7714A>T (p.Ser2572Cys) c.5917A>T (p.Ser1973Cys) | |
| 6 | g.7584977G>A | CA362693620 | DSP | c.6386G>A (p.Ser2129Asn) c.7715G>A (p.Ser2572Asn) c.5918G>A (p.Ser1973Asn) | |
| 6 | g.7584977G>C | CA362693621 | DSP | c.6386G>C (p.Ser2129Thr) c.7715G>C (p.Ser2572Thr) c.5918G>C (p.Ser1973Thr) | |
| 6 | g.7584977G>T | CA362693622 | DSP | c.6386G>T (p.Ser2129Ile) c.7715G>T (p.Ser2572Ile) c.5918G>T (p.Ser1973Ile) | |
| 6 | g.7584978C>A | CA362693623 | DSP | c.6387C>A (p.Ser2129Arg) c.7716C>A (p.Ser2572Arg) c.5919C>A (p.Ser1973Arg) | |
| 6 | g.7584978C= | CA1608612876 | DSP | c.6387C= (p.Ser2129=) c.7716C= (p.Ser2572=) c.5919C= (p.Ser1973=) | |
| 6 | g.7584978C>G | CA362693624 | DSP | c.6387C>G (p.Ser2129Arg) c.7716C>G (p.Ser2572Arg) c.5919C>G (p.Ser1973Arg) | |
| 6 | g.7584978C>T | CA050506 | DSP | c.6387C>T (p.Ser2129=) c.7716C>T (p.Ser2572=) c.5919C>T (p.Ser1973=) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.7584979A>C | CA362693625 | DSP | c.6388A>C (p.Met2130Leu) c.7717A>C (p.Met2573Leu) c.5920A>C (p.Met1974Leu) | |
| 6 | g.7584979A>G | CA362693626 | DSP | c.6388A>G (p.Met2130Val) c.7717A>G (p.Met2573Val) c.5920A>G (p.Met1974Val) | |
| 6 | g.7584979A>T | CA362693627 | DSP | c.6388A>T (p.Met2130Leu) c.7717A>T (p.Met2573Leu) c.5920A>T (p.Met1974Leu) | |
| 6 | g.7584980T>A | CA362693628 | DSP | c.6389T>A (p.Met2130Lys) c.7718T>A (p.Met2573Lys) c.5921T>A (p.Met1974Lys) | |
| 6 | g.7584980T>C | CA362693629 | DSP | c.6389T>C (p.Met2130Thr) c.7718T>C (p.Met2573Thr) c.5921T>C (p.Met1974Thr) | ClinVar dbSNP |
| 6 | g.7584980T>G | CA362693630 | DSP | c.6389T>G (p.Met2130Arg) c.7718T>G (p.Met2573Arg) c.5921T>G (p.Met1974Arg) | |
| 6 | g.7584980T= | CA1608612882 | DSP | c.6389T= (p.Met2130=) c.7718T= (p.Met2573=) c.5921T= (p.Met1974=) | |
| 6 | g.7584981G>A | CA362693632 | DSP | c.6390G>A (p.Met2130Ile) c.7719G>A (p.Met2573Ile) c.5922G>A (p.Met1974Ile) | |
| 6 | g.7584981G>C | CA362693633 | DSP | c.6390G>C (p.Met2130Ile) c.7719G>C (p.Met2573Ile) c.5922G>C (p.Met1974Ile) | |
| 6 | g.7584981G>T | CA362693631 | DSP | c.6390G>T (p.Met2130Ile) c.7719G>T (p.Met2573Ile) c.5922G>T (p.Met1974Ile) | |
| 6 | g.7584982G>A | CA362693634 | DSP | c.6391G>A (p.Gly2131Ser) c.7720G>A (p.Gly2574Ser) c.5923G>A (p.Gly1975Ser) | gnomAD v4 |
| 6 | g.7584982G>C | CA133976469 | DSP | c.6391G>C (p.Gly2131Arg) c.7720G>C (p.Gly2574Arg) c.5923G>C (p.Gly1975Arg) | dbSNP COSMIC |
| 6 | g.7584982G= | CA1608612888 | DSP | c.6391G= (p.Gly2131=) c.7720G= (p.Gly2574=) c.5923G= (p.Gly1975=) | |
| 6 | g.7584982G>T | CA362693635 | DSP | c.6391G>T (p.Gly2131Cys) c.7720G>T (p.Gly2574Cys) c.5923G>T (p.Gly1975Cys) | |
| 6 | g.7584983G>A | CA050515 | DSP | c.6392G>A (p.Gly2131Asp) c.7721G>A (p.Gly2574Asp) c.5924G>A (p.Gly1975Asp) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.7584983G>C | CA362693636 | DSP | c.6392G>C (p.Gly2131Ala) c.7721G>C (p.Gly2574Ala) c.5924G>C (p.Gly1975Ala) | dbSNP |
| 6 | g.7584983G= | CA1608612891 | DSP | c.6392G= (p.Gly2131=) c.7721G= (p.Gly2574=) c.5924G= (p.Gly1975=) | |
| 6 | g.7584983G>T | CA362693637 | DSP | c.6392G>T (p.Gly2131Val) c.7721G>T (p.Gly2574Val) c.5924G>T (p.Gly1975Val) | |
| 6 | g.7584984C>A | CA448716325 | DSP | c.6393C>A (p.Gly2131=) c.7722C>A (p.Gly2574=) c.5925C>A (p.Gly1975=) | |
| 6 | g.7584984C>G | CA448716326 | DSP | c.6393C>G (p.Gly2131=) c.7722C>G (p.Gly2574=) c.5925C>G (p.Gly1975=) | |
| 6 | g.7584984C>T | CA448716327 | DSP | c.6393C>T (p.Gly2131=) c.7722C>T (p.Gly2574=) c.5925C>T (p.Gly1975=) | |
| 6 | g.7584985A>C | CA362693638 | DSP | c.6394A>C (p.Ser2132Arg) c.7723A>C (p.Ser2575Arg) c.5926A>C (p.Ser1976Arg) | |
| 6 | g.7584985A>G | CA362693640 | DSP | c.6394A>G (p.Ser2132Gly) c.7723A>G (p.Ser2575Gly) c.5926A>G (p.Ser1976Gly) | |
| 6 | g.7584985A>T | CA362693639 | DSP | c.6394A>T (p.Ser2132Cys) c.7723A>T (p.Ser2575Cys) c.5926A>T (p.Ser1976Cys) | |
| 6 | g.7584986G>A | CA362693641 | DSP | c.6395G>A (p.Ser2132Asn) c.7724G>A (p.Ser2575Asn) c.5927G>A (p.Ser1976Asn) | |
| 6 | g.7584986G>C | CA362693642 | DSP | c.6395G>C (p.Ser2132Thr) c.7724G>C (p.Ser2575Thr) c.5927G>C (p.Ser1976Thr) | |
| 6 | g.7584986G>T | CA362693643 | DSP | c.6395G>T (p.Ser2132Ile) c.7724G>T (p.Ser2575Ile) c.5927G>T (p.Ser1976Ile) | COSMIC |
| 6 | g.7584987T>A | CA362693644 | DSP | c.6396T>A (p.Ser2132Arg) c.7725T>A (p.Ser2575Arg) c.5928T>A (p.Ser1976Arg) | |
| 6 | g.7584987T>C | CA448716336 | DSP | c.6396T>C (p.Ser2132=) c.7725T>C (p.Ser2575=) c.5928T>C (p.Ser1976=) | ClinVar |
| 6 | g.7584987T>G | CA362693645 | DSP | c.6396T>G (p.Ser2132Arg) c.7725T>G (p.Ser2575Arg) c.5928T>G (p.Ser1976Arg) | |
| 6 | g.7584988G>A | CA362693648 | DSP | c.6397G>A (p.Gly2133Ser) c.7726G>A (p.Gly2576Ser) c.5929G>A (p.Gly1977Ser) | |
| 6 | g.7584988G>C | CA362693647 | DSP | c.6397G>C (p.Gly2133Arg) c.7726G>C (p.Gly2576Arg) c.5929G>C (p.Gly1977Arg) | dbSNP |
| 6 | g.7584988G>T | CA362693646 | DSP | c.6397G>T (p.Gly2133Cys) c.7726G>T (p.Gly2576Cys) c.5929G>T (p.Gly1977Cys) | |
| 6 | g.7584989G>A | CA362693650 | DSP | c.6398G>A (p.Gly2133Asp) c.7727G>A (p.Gly2576Asp) c.5930G>A (p.Gly1977Asp) | |
| 6 | g.7584989G>C | CA362693649 | DSP | c.6398G>C (p.Gly2133Ala) c.7727G>C (p.Gly2576Ala) c.5930G>C (p.Gly1977Ala) | |
| 6 | g.7584989G= | CA1608612896 | DSP | c.6398G= (p.Gly2133=) c.7727G= (p.Gly2576=) c.5930G= (p.Gly1977=) | |
| 6 | g.7584989G>T | CA050527 | DSP | c.6398G>T (p.Gly2133Val) c.7727G>T (p.Gly2576Val) c.5930G>T (p.Gly1977Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584990T>A | CA448716343 | DSP | c.6399T>A (p.Gly2133=) c.7728T>A (p.Gly2576=) c.5931T>A (p.Gly1977=) | |
| 6 | g.7584990T>C | CA133976484 | DSP | c.6399T>C (p.Gly2133=) c.7728T>C (p.Gly2576=) c.5931T>C (p.Gly1977=) | dbSNP gnomAD v4 |
| 6 | g.7584990T>G | CA448716346 | DSP | c.6399T>G (p.Gly2133=) c.7728T>G (p.Gly2576=) c.5931T>G (p.Gly1977=) | ClinVar dbSNP |
| 6 | g.7584990T= | CA1608612898 | DSP | c.6399T= (p.Gly2133=) c.7728T= (p.Gly2576=) c.5931T= (p.Gly1977=) | |
| 6 | g.7584991G>A | CA362693651 | DSP | c.6400G>A (p.Val2134Ile) c.7729G>A (p.Val2577Ile) c.5932G>A (p.Val1978Ile) | |
| 6 | g.7584991G>C | CA362693652 | DSP | c.6400G>C (p.Val2134Leu) c.7729G>C (p.Val2577Leu) c.5932G>C (p.Val1978Leu) | |
| 6 | g.7584991G>T | CA362693653 | DSP | c.6400G>T (p.Val2134Phe) c.7729G>T (p.Val2577Phe) c.5932G>T (p.Val1978Phe) | |
| 6 | g.7584992T>A | CA362693654 | DSP | c.6401T>A (p.Val2134Asp) c.7730T>A (p.Val2577Asp) c.5933T>A (p.Val1978Asp) | gnomAD v4 |
| 6 | g.7584992T>C | CA050543 | DSP | c.6401T>C (p.Val2134Ala) c.7730T>C (p.Val2577Ala) c.5933T>C (p.Val1978Ala) | dbSNP ExAC gnomAD v4 |
| 6 | g.7584992T>G | CA362693655 | DSP | c.6401T>G (p.Val2134Gly) c.7730T>G (p.Val2577Gly) c.5933T>G (p.Val1978Gly) | |
| 6 | g.7584992T= | CA1608612906 | DSP | c.6401T= (p.Val2134=) c.7730T= (p.Val2577=) c.5933T= (p.Val1978=) | |
| 6 | g.7584993C>A | CA448716361 | DSP | c.6402C>A (p.Val2134=) c.7731C>A (p.Val2577=) c.5934C>A (p.Val1978=) | |
| 6 | g.7584993C= | CA1608612910 | DSP | c.6402C= (p.Val2134=) c.7731C= (p.Val2577=) c.5934C= (p.Val1978=) | |
| 6 | g.7584993C>G | CA448716362 | DSP | c.6402C>G (p.Val2134=) c.7731C>G (p.Val2577=) c.5934C>G (p.Val1978=) | |
| 6 | g.7584993C>T | CA448716366 | DSP | c.6402C>T (p.Val2134=) c.7731C>T (p.Val2577=) c.5934C>T (p.Val1978=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584994A= | CA1608612927 | DSP | c.6403A= (p.Ser2135=) c.7732A= (p.Ser2578=) c.5935A= (p.Ser1979=) | |
| 6 | g.7584994A>C | CA362693656 | DSP | c.6403A>C (p.Ser2135Arg) c.7732A>C (p.Ser2578Arg) c.5935A>C (p.Ser1979Arg) | |
| 6 | g.7584994A>G | CA362693657 | DSP | c.6403A>G (p.Ser2135Gly) c.7732A>G (p.Ser2578Gly) c.5935A>G (p.Ser1979Gly) | dbSNP gnomAD v4 |
| 6 | g.7584994A>T | CA362693658 | DSP | c.6403A>T (p.Ser2135Cys) c.7732A>T (p.Ser2578Cys) c.5935A>T (p.Ser1979Cys) | ClinVar |
| 6 | g.7584995G>A | CA362693659 | DSP | c.6404G>A (p.Ser2135Asn) c.7733G>A (p.Ser2578Asn) c.5936G>A (p.Ser1979Asn) | |
| 6 | g.7584995G>C | CA362693660 | DSP | c.6404G>C (p.Ser2135Thr) c.7733G>C (p.Ser2578Thr) c.5936G>C (p.Ser1979Thr) | |
| 6 | g.7584995G>T | CA362693661 | DSP | c.6404G>T (p.Ser2135Ile) c.7733G>T (p.Ser2578Ile) c.5936G>T (p.Ser1979Ile) | |
| 6 | g.7584996C>A | CA362693662 | DSP | c.6405C>A (p.Ser2135Arg) c.7734C>A (p.Ser2578Arg) c.5937C>A (p.Ser1979Arg) | |
| 6 | g.7584996C= | CA1608612933 | DSP | c.6405C= (p.Ser2135=) c.7734C= (p.Ser2578=) c.5937C= (p.Ser1979=) | |
| 6 | g.7584996C>G | CA050554 | DSP | c.6405C>G (p.Ser2135Arg) c.7734C>G (p.Ser2578Arg) c.5937C>G (p.Ser1979Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584996C>T | CA007258 | DSP | c.6405C>T (p.Ser2135=) c.7734C>T (p.Ser2578=) c.5937C>T (p.Ser1979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584996_7584999delinsCGAT | CA1608612940 | DSP | c.6405_6408delinsCGAT (p.Ser2135=) c.7734_7737delinsCGAT (p.Ser2578=) c.5937_5940delinsCGAT (p.Ser1979=) | |
| 6 | g.7584997G>A | CA050579 | DSP | c.6406G>A (p.Asp2136Asn) c.7735G>A (p.Asp2579Asn) c.5938G>A (p.Asp1980Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584997G>C | CA362693663 | DSP | c.6406G>C (p.Asp2136His) c.7735G>C (p.Asp2579His) c.5938G>C (p.Asp1980His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584997G= | CA1608612946 | DSP | c.6406G= (p.Asp2136=) c.7735G= (p.Asp2579=) c.5938G= (p.Asp1980=) | |
| 6 | g.7584997G>T | CA362693664 | DSP | c.6406G>T (p.Asp2136Tyr) c.7735G>T (p.Asp2579Tyr) c.5938G>T (p.Asp1980Tyr) | |
| 6 | g.7585001_7585003del | CA1139659424 | DSP | c.6410_6412del (p.Asp2137del) c.7739_7741del (p.Asp2580del) c.5942_5944del (p.Asp1981del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584998A= | CA1608612958 | DSP | c.6407A= (p.Asp2136=) c.7736A= (p.Asp2579=) c.5939A= (p.Asp1980=) | |
| 6 | g.7584998A>C | CA362693665 | DSP | c.6407A>C (p.Asp2136Ala) c.7736A>C (p.Asp2579Ala) c.5939A>C (p.Asp1980Ala) | |
| 6 | g.7584998A>G | CA362693666 | DSP | c.6407A>G (p.Asp2136Gly) c.7736A>G (p.Asp2579Gly) c.5939A>G (p.Asp1980Gly) | |
| 6 | g.7584998A>T | CA362693667 | DSP | c.6407A>T (p.Asp2136Val) c.7736A>T (p.Asp2579Val) c.5939A>T (p.Asp1980Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584999T>A | CA362693668 | DSP | c.6408T>A (p.Asp2136Glu) c.7737T>A (p.Asp2579Glu) c.5940T>A (p.Asp1980Glu) | |
| 6 | g.7584999T>C | CA448716374 | DSP | c.6408T>C (p.Asp2136=) c.7737T>C (p.Asp2579=) c.5940T>C (p.Asp1980=) | |
| 6 | g.7584999T>G | CA362693669 | DSP | c.6408T>G (p.Asp2136Glu) c.7737T>G (p.Asp2579Glu) c.5940T>G (p.Asp1980Glu) | |
| 6 | g.7585000del | CA2580075381 | DSP | c.6409del (p.Asp2137MetfsTer11) c.7738del (p.Asp2580MetfsTer11) c.5941del (p.Asp1981MetfsTer11) | ClinVar |
| 6 | g.7585000G>A | CA362693670 | DSP | c.6409G>A (p.Asp2137Asn) c.7738G>A (p.Asp2580Asn) c.5941G>A (p.Asp1981Asn) | |
| 6 | g.7585000G>C | CA362693671 | DSP | c.6409G>C (p.Asp2137His) c.7738G>C (p.Asp2580His) c.5941G>C (p.Asp1981His) | |
| 6 | g.7585000G= | CA1608612974 | DSP | c.6409G= (p.Asp2137=) c.7738G= (p.Asp2580=) c.5941G= (p.Asp1981=) | |
| 6 | g.7585000G>T | CA050590 | DSP | c.6409G>T (p.Asp2137Tyr) c.7738G>T (p.Asp2580Tyr) c.5941G>T (p.Asp1981Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585001A= | CA1608612981 | DSP | c.6410A= (p.Asp2137=) c.7739A= (p.Asp2580=) c.5942A= (p.Asp1981=) | |
| 6 | g.7585001A>C | CA362693674 | DSP | c.6410A>C (p.Asp2137Ala) c.7739A>C (p.Asp2580Ala) c.5942A>C (p.Asp1981Ala) | |
| 6 | g.7585001A>G | CA362693673 | DSP | c.6410A>G (p.Asp2137Gly) c.7739A>G (p.Asp2580Gly) c.5942A>G (p.Asp1981Gly) | gnomAD v4 |
| 6 | g.7585001A>T | CA362693672 | DSP | c.6410A>T (p.Asp2137Val) c.7739A>T (p.Asp2580Val) c.5942A>T (p.Asp1981Val) | dbSNP gnomAD v4 |
| 6 | g.7585002T>A | CA362693675 | DSP | c.6411T>A (p.Asp2137Glu) c.7740T>A (p.Asp2580Glu) c.5943T>A (p.Asp1981Glu) | gnomAD v4 |
| 6 | g.7585002T>C | CA050599 | DSP | c.6411T>C (p.Asp2137=) c.7740T>C (p.Asp2580=) c.5943T>C (p.Asp1981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585002T>G | CA362693676 | DSP | c.6411T>G (p.Asp2137Glu) c.7740T>G (p.Asp2580Glu) c.5943T>G (p.Asp1981Glu) | |
| 6 | g.7585002T= | CA1608612985 | DSP | c.6411T= (p.Asp2137=) c.7740T= (p.Asp2580=) c.5943T= (p.Asp1981=) |