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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116632349C>A | CA365413304 | RSPH4A | c.2059C>A (p.Gln687Lys) c.1318C>A (p.Gln440Lys) c.*120C>A (n.*120C>A) | |
| 6 | g.116632349C>G | CA365413306 | RSPH4A | c.2059C>G (p.Gln687Glu) c.1318C>G (p.Gln440Glu) c.*120C>G (n.*120C>G) | |
| 6 | g.116632349C>T | CA365413308 | RSPH4A | c.2059C>T (p.Gln687Ter) c.1318C>T (p.Gln440Ter) c.*120C>T (n.*120C>T) | |
| 6 | g.116632350A= | CA1657314473 | RSPH4A | c.2060A= (p.Gln687=) c.1319A= (p.Gln440=) c.*121A= (n.*121A=) | |
| 6 | g.116632350A>C | CA365413310 | RSPH4A | c.2060A>C (p.Gln687Pro) c.1319A>C (p.Gln440Pro) c.*121A>C (n.*121A>C) | |
| 6 | g.116632350A>G | CA145928882 | RSPH4A | c.2060A>G (p.Gln687Arg) c.1319A>G (p.Gln440Arg) c.*121A>G (n.*121A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632350A>T | CA365413313 | RSPH4A | c.2060A>T (p.Gln687Leu) c.1319A>T (p.Gln440Leu) c.*121A>T (n.*121A>T) | |
| 6 | g.116632351G>A | CA451904459 | RSPH4A | c.2061G>A (p.Gln687=) c.1320G>A (p.Gln440=) c.*122G>A (n.*122G>A) | |
| 6 | g.116632351G>C | CA365413315 | RSPH4A | c.2061G>C (p.Gln687His) c.1320G>C (p.Gln440His) c.*122G>C (n.*122G>C) | |
| 6 | g.116632351G>T | CA365413317 | RSPH4A | c.2061G>T (p.Gln687His) c.1320G>T (p.Gln440His) c.*122G>T (n.*122G>T) | |
| 6 | g.116632352G>A | CA365413319 | RSPH4A | c.2062G>A (p.Ala688Thr) c.1321G>A (p.Ala441Thr) c.*123G>A (n.*123G>A) | |
| 6 | g.116632352G>C | CA365413321 | RSPH4A | c.2062G>C (p.Ala688Pro) c.1321G>C (p.Ala441Pro) c.*123G>C (n.*123G>C) | gnomAD v4 |
| 6 | g.116632352G>T | CA365413323 | RSPH4A | c.2062G>T (p.Ala688Ser) c.1321G>T (p.Ala441Ser) c.*123G>T (n.*123G>T) | |
| 6 | g.116632353C>A | CA365413329 | RSPH4A | c.2063C>A (p.Ala688Asp) c.1322C>A (p.Ala441Asp) c.*124C>A (n.*124C>A) | |
| 6 | g.116632353C= | CA1657314474 | RSPH4A | c.2063C= (p.Ala688=) c.1322C= (p.Ala441=) c.*124C= (n.*124C=) | |
| 6 | g.116632353C>G | CA365413327 | RSPH4A | c.2063C>G (p.Ala688Gly) c.1322C>G (p.Ala441Gly) c.*124C>G (n.*124C>G) | |
| 6 | g.116632353C>T | CA365413325 | RSPH4A | c.2063C>T (p.Ala688Val) c.1322C>T (p.Ala441Val) c.*124C>T (n.*124C>T) | dbSNP |
| 6 | g.116632354T>A | CA451904461 | RSPH4A | c.2064T>A (p.Ala688=) c.1323T>A (p.Ala441=) c.*125T>A (n.*125T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632354T>C | CA451904462 | RSPH4A | c.2064T>C (p.Ala688=) c.1323T>C (p.Ala441=) c.*125T>C (n.*125T>C) | gnomAD v4 |
| 6 | g.116632354T>G | CA451904463 | RSPH4A | c.2064T>G (p.Ala688=) c.1323T>G (p.Ala441=) c.*125T>G (n.*125T>G) | |
| 6 | g.116632354T= | CA1657314476 | RSPH4A | c.2064T= (p.Ala688=) c.1323T= (p.Ala441=) c.*125T= (n.*125T=) | |
| 6 | g.116632355T>A | CA365413332 | RSPH4A | c.2065T>A (p.Phe689Ile) c.1324T>A (p.Phe442Ile) c.*126T>A (n.*126T>A) | |
| 6 | g.116632355T>C | CA365413333 | RSPH4A | c.2065T>C (p.Phe689Leu) c.1324T>C (p.Phe442Leu) c.*126T>C (n.*126T>C) | |
| 6 | g.116632355T>G | CA365413335 | RSPH4A | c.2065T>G (p.Phe689Val) c.1324T>G (p.Phe442Val) c.*126T>G (n.*126T>G) | |
| 6 | g.116632356T>A | CA365413338 | RSPH4A | c.2066T>A (p.Phe689Tyr) c.1325T>A (p.Phe442Tyr) c.*127T>A (n.*127T>A) | gnomAD v4 |
| 6 | g.116632356T>C | CA365413339 | RSPH4A | c.2066T>C (p.Phe689Ser) c.1325T>C (p.Phe442Ser) c.*127T>C (n.*127T>C) | |
| 6 | g.116632356T>G | CA365413341 | RSPH4A | c.2066T>G (p.Phe689Cys) c.1325T>G (p.Phe442Cys) c.*127T>G (n.*127T>G) | |
| 6 | g.116632357C>A | CA365413343 | RSPH4A | c.2067C>A (p.Phe689Leu) c.1326C>A (p.Phe442Leu) c.*128C>A (n.*128C>A) | |
| 6 | g.116632357C>G | CA365413344 | RSPH4A | c.2067C>G (p.Phe689Leu) c.1326C>G (p.Phe442Leu) c.*128C>G (n.*128C>G) | |
| 6 | g.116632357C>T | CA451904464 | RSPH4A | c.2067C>T (p.Phe689=) c.1326C>T (p.Phe442=) c.*128C>T (n.*128C>T) | |
| 6 | g.116632358A>C | CA451904466 | RSPH4A | c.2068A>C (p.Arg690=) c.1327A>C (p.Arg443=) c.*129A>C (n.*129A>C) | |
| 6 | g.116632358A>G | CA365413346 | RSPH4A | c.2068A>G (p.Arg690Gly) c.1327A>G (p.Arg443Gly) c.*129A>G (n.*129A>G) | |
| 6 | g.116632358A>T | CA365413348 | RSPH4A | c.2068A>T (p.Arg690Trp) c.1327A>T (p.Arg443Trp) c.*129A>T (n.*129A>T) | |
| 6 | g.116632359G>A | CA365413350 | RSPH4A | c.2069G>A (p.Arg690Lys) c.1328G>A (p.Arg443Lys) c.*130G>A (n.*130G>A) | gnomAD v4 |
| 6 | g.116632359G>C | CA365413352 | RSPH4A | c.2069G>C (p.Arg690Thr) c.1328G>C (p.Arg443Thr) c.*130G>C (n.*130G>C) | |
| 6 | g.116632359G>T | CA365413354 | RSPH4A | c.2069G>T (p.Arg690Met) c.1328G>T (p.Arg443Met) c.*130G>T (n.*130G>T) | |
| 6 | g.116632360G>A | CA451904467 | RSPH4A | c.2070G>A (p.Arg690=) c.1329G>A (p.Arg443=) c.*131G>A (n.*131G>A) | |
| 6 | g.116632360G>C | CA365413358 | RSPH4A | c.2070G>C (p.Arg690Ser) c.1329G>C (p.Arg443Ser) c.*131G>C (n.*131G>C) | |
| 6 | g.116632360G>T | CA365413356 | RSPH4A | c.2070G>T (p.Arg690Ser) c.1329G>T (p.Arg443Ser) c.*131G>T (n.*131G>T) | COSMIC |
| 6 | g.116632361G>A | CA365413360 | RSPH4A | c.2071G>A (p.Ala691Thr) c.1330G>A (p.Ala444Thr) c.*132G>A (n.*132G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.116632361G>C | CA365413362 | RSPH4A | c.2071G>C (p.Ala691Pro) c.1330G>C (p.Ala444Pro) c.*132G>C (n.*132G>C) | gnomAD v4 |
| 6 | g.116632361G>T | CA365413364 | RSPH4A | c.2071G>T (p.Ala691Ser) c.1330G>T (p.Ala444Ser) c.*132G>T (n.*132G>T) | |
| 6 | g.116632362C>A | CA365413366 | RSPH4A | c.2072C>A (p.Ala691Asp) c.1331C>A (p.Ala444Asp) c.*133C>A (n.*133C>A) | dbSNP |
| 6 | g.116632362C= | CA1657314477 | RSPH4A | c.2072C= (p.Ala691=) c.1331C= (p.Ala444=) c.*133C= (n.*133C=) | |
| 6 | g.116632362C>G | CA365413368 | RSPH4A | c.2072C>G (p.Ala691Gly) c.1331C>G (p.Ala444Gly) c.*133C>G (n.*133C>G) | |
| 6 | g.116632362C>T | CA3971107 | RSPH4A | c.2072C>T (p.Ala691Val) c.1331C>T (p.Ala444Val) c.*133C>T (n.*133C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632363T>A | CA451904472 | RSPH4A | c.2073T>A (p.Ala691=) c.1332T>A (p.Ala444=) c.*134T>A (n.*134T>A) | |
| 6 | g.116632363T>C | CA451904473 | RSPH4A | c.2073T>C (p.Ala691=) c.1332T>C (p.Ala444=) c.*134T>C (n.*134T>C) | |
| 6 | g.116632363T>G | CA451904474 | RSPH4A | c.2073T>G (p.Ala691=) c.1332T>G (p.Ala444=) c.*134T>G (n.*134T>G) | gnomAD v4 |
| 6 | g.116632364G>A | CA365413371 | RSPH4A | c.2074G>A (p.Ala692Thr) c.1333G>A (p.Ala445Thr) c.*135G>A (n.*135G>A) | |
| 6 | g.116632364G>C | CA365413373 | RSPH4A | c.2074G>C (p.Ala692Pro) c.1333G>C (p.Ala445Pro) c.*135G>C (n.*135G>C) | |
| 6 | g.116632364G>T | CA365413375 | RSPH4A | c.2074G>T (p.Ala692Ser) c.1333G>T (p.Ala445Ser) c.*135G>T (n.*135G>T) | |
| 6 | g.116632365C>A | CA365413377 | RSPH4A | c.2075C>A (p.Ala692Glu) c.1334C>A (p.Ala445Glu) c.*136C>A (n.*136C>A) | |
| 6 | g.116632365C>G | CA365413379 | RSPH4A | c.2075C>G (p.Ala692Gly) c.1334C>G (p.Ala445Gly) c.*136C>G (n.*136C>G) | |
| 6 | g.116632365C>T | CA365413381 | RSPH4A | c.2075C>T (p.Ala692Val) c.1334C>T (p.Ala445Val) c.*136C>T (n.*136C>T) | gnomAD v4 |
| 6 | g.116632366A= | CA1657314478 | RSPH4A | c.2076A= (p.Ala692=) c.1335A= (p.Ala445=) c.*137A= (n.*137A=) | |
| 6 | g.116632366A>C | CA451904480 | RSPH4A | c.2076A>C (p.Ala692=) c.1335A>C (p.Ala445=) c.*137A>C (n.*137A>C) | gnomAD v4 |
| 6 | g.116632366A>G | CA451904482 | RSPH4A | c.2076A>G (p.Ala692=) c.1335A>G (p.Ala445=) c.*137A>G (n.*137A>G) | |
| 6 | g.116632366A>T | CA3971108 | RSPH4A | c.2076A>T (p.Ala692=) c.1335A>T (p.Ala445=) c.*137A>T (n.*137A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632367C>A | CA365413388 | RSPH4A | c.2077C>A (p.Gln693Lys) c.1336C>A (p.Gln446Lys) c.*138C>A (n.*138C>A) | |
| 6 | g.116632367C= | CA1657314480 | RSPH4A | c.2077C= (p.Gln693=) c.1336C= (p.Gln446=) c.*138C= (n.*138C=) | |
| 6 | g.116632367C>G | CA365413386 | RSPH4A | c.2077C>G (p.Gln693Glu) c.1336C>G (p.Gln446Glu) c.*138C>G (n.*138C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632367C>T | CA365413385 | RSPH4A | c.2077C>T (p.Gln693Ter) c.1336C>T (p.Gln446Ter) c.*138C>T (n.*138C>T) | |
| 6 | g.116632367dup | CA2680119231 | RSPH4A | c.2077dup (p.Gln693ProfsTer9) c.1336dup (p.Gln446ProfsTer9) c.*138dup (n.*138dup) | gnomAD v4 |
| 6 | g.116632368A= | CA1657314481 | RSPH4A | c.2078A= (p.Gln693=) c.1337A= (p.Gln446=) c.*139A= (n.*139A=) | |
| 6 | g.116632368A>C | CA365413390 | RSPH4A | c.2078A>C (p.Gln693Pro) c.1337A>C (p.Gln446Pro) c.*139A>C (n.*139A>C) | |
| 6 | g.116632368A>G | CA365413392 | RSPH4A | c.2078A>G (p.Gln693Arg) c.1337A>G (p.Gln446Arg) c.*139A>G (n.*139A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632368A>T | CA365413394 | RSPH4A | c.2078A>T (p.Gln693Leu) c.1337A>T (p.Gln446Leu) c.*139A>T (n.*139A>T) | |
| 6 | g.116632369A>C | CA365413396 | RSPH4A | c.2079A>C (p.Gln693His) c.1338A>C (p.Gln446His) c.*140A>C (n.*140A>C) | |
| 6 | g.116632369A>G | CA451904484 | RSPH4A | c.2079A>G (p.Gln693=) c.1338A>G (p.Gln446=) c.*140A>G (n.*140A>G) | |
| 6 | g.116632369A>T | CA365413398 | RSPH4A | c.2079A>T (p.Gln693His) c.1338A>T (p.Gln446His) c.*140A>T (n.*140A>T) | |
| 6 | g.116632370G>A | CA365413401 | RSPH4A | c.2080G>A (p.Glu694Lys) c.1339G>A (p.Glu447Lys) c.*141G>A (n.*141G>A) | |
| 6 | g.116632370G>C | CA365413402 | RSPH4A | c.2080G>C (p.Glu694Gln) c.1339G>C (p.Glu447Gln) c.*141G>C (n.*141G>C) | |
| 6 | g.116632370G>T | CA365413404 | RSPH4A | c.2080G>T (p.Glu694Ter) c.1339G>T (p.Glu447Ter) c.*141G>T (n.*141G>T) | |
| 6 | g.116632371A= | CA1657314483 | RSPH4A | c.2081A= (p.Glu694=) c.1340A= (p.Glu447=) c.*142A= (n.*142A=) | |
| 6 | g.116632371A>C | CA365413407 | RSPH4A | c.2081A>C (p.Glu694Ala) c.1340A>C (p.Glu447Ala) c.*142A>C (n.*142A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632371A>G | CA365413408 | RSPH4A | c.2081A>G (p.Glu694Gly) c.1340A>G (p.Glu447Gly) c.*142A>G (n.*142A>G) | ClinVar dbSNP |
| 6 | g.116632371A>T | CA365413410 | RSPH4A | c.2081A>T (p.Glu694Val) c.1340A>T (p.Glu447Val) c.*142A>T (n.*142A>T) | |
| 6 | g.116632372A>C | CA365413412 | RSPH4A | c.2082A>C (p.Glu694Asp) c.1341A>C (p.Glu447Asp) c.*143A>C (n.*143A>C) | |
| 6 | g.116632372A>G | CA451904492 | RSPH4A | c.2082A>G (p.Glu694=) c.1341A>G (p.Glu447=) c.*143A>G (n.*143A>G) | |
| 6 | g.116632372A>T | CA365413414 | RSPH4A | c.2082A>T (p.Glu694Asp) c.1341A>T (p.Glu447Asp) c.*143A>T (n.*143A>T) | |
| 6 | g.116632373G>A | CA365413419 | RSPH4A | c.2083G>A (p.Ala695Thr) c.1342G>A (p.Ala448Thr) c.*144G>A (n.*144G>A) | gnomAD v4 |
| 6 | g.116632373G>C | CA365413420 | RSPH4A | c.2083G>C (p.Ala695Pro) c.1342G>C (p.Ala448Pro) c.*144G>C (n.*144G>C) | |
| 6 | g.116632373G>T | CA365413417 | RSPH4A | c.2083G>T (p.Ala695Ser) c.1342G>T (p.Ala448Ser) c.*144G>T (n.*144G>T) | |
| 6 | g.116632374C>A | CA365413423 | RSPH4A | c.2084C>A (p.Ala695Glu) c.1343C>A (p.Ala448Glu) c.*145C>A (n.*145C>A) | |
| 6 | g.116632374C>G | CA365413426 | RSPH4A | c.2084C>G (p.Ala695Gly) c.1343C>G (p.Ala448Gly) c.*145C>G (n.*145C>G) | |
| 6 | g.116632374C>T | CA365413425 | RSPH4A | c.2084C>T (p.Ala695Val) c.1343C>T (p.Ala448Val) c.*145C>T (n.*145C>T) | |
| 6 | g.116632375A= | CA1657314485 | RSPH4A | c.2085A= (p.Ala695=) c.1344A= (p.Ala448=) c.*146A= (n.*146A=) | |
| 6 | g.116632375A>C | CA451904494 | RSPH4A | c.2085A>C (p.Ala695=) c.1344A>C (p.Ala448=) c.*146A>C (n.*146A>C) | |
| 6 | g.116632375A>G | CA451904496 | RSPH4A | c.2085A>G (p.Ala695=) c.1344A>G (p.Ala448=) c.*146A>G (n.*146A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632375A>T | CA451904497 | RSPH4A | c.2085A>T (p.Ala695=) c.1344A>T (p.Ala448=) c.*146A>T (n.*146A>T) | |
| 6 | g.116632376del | CA2680119232 | RSPH4A | c.2086del (p.Val696PhefsTer?) c.1345del (p.Val449PhefsTer?) c.*147del (n.*147del) | gnomAD v4 |
| 6 | g.116632376G>A | CA365413429 | RSPH4A | c.2086G>A (p.Val696Ile) c.1345G>A (p.Val449Ile) c.*147G>A (n.*147G>A) | |
| 6 | g.116632376G>C | CA365413432 | RSPH4A | c.2086G>C (p.Val696Leu) c.1345G>C (p.Val449Leu) c.*147G>C (n.*147G>C) | |
| 6 | g.116632376G>T | CA365413430 | RSPH4A | c.2086G>T (p.Val696Phe) c.1345G>T (p.Val449Phe) c.*147G>T (n.*147G>T) | |
| 6 | g.116632377T>A | CA3971109 | RSPH4A | c.2087T>A (p.Val696Asp) c.1346T>A (p.Val449Asp) c.*148T>A (n.*148T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632377T>C | CA365413437 | RSPH4A | c.2087T>C (p.Val696Ala) c.1346T>C (p.Val449Ala) c.*148T>C (n.*148T>C) | |
| 6 | g.116632377T>G | CA365413435 | RSPH4A | c.2087T>G (p.Val696Gly) c.1346T>G (p.Val449Gly) c.*148T>G (n.*148T>G) | |
| 6 | g.116632377T= | CA1657314487 | RSPH4A | c.2087T= (p.Val696=) c.1346T= (p.Val449=) c.*148T= (n.*148T=) | |
| 6 | g.116632378T>A | CA451904501 | RSPH4A | c.2088T>A (p.Val696=) c.1347T>A (p.Val449=) c.*149T>A (n.*149T>A) | |
| 6 | g.116632378T>C | CA451904503 | RSPH4A | c.2088T>C (p.Val696=) c.1347T>C (p.Val449=) c.*149T>C (n.*149T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632378T>G | CA451904502 | RSPH4A | c.2088T>G (p.Val696=) c.1347T>G (p.Val449=) c.*149T>G (n.*149T>G) | |
| 6 | g.116632378T= | CA1657314489 | RSPH4A | c.2088T= (p.Val696=) c.1347T= (p.Val449=) c.*149T= (n.*149T=) | |
| 6 | g.116632379C>A | CA365413438 | RSPH4A | c.2089C>A (p.Leu697Ile) c.1348C>A (p.Leu450Ile) c.*150C>A (n.*150C>A) | gnomAD v4 |
| 6 | g.116632379C>G | CA365413440 | RSPH4A | c.2089C>G (p.Leu697Val) c.1348C>G (p.Leu450Val) c.*150C>G (n.*150C>G) | |
| 6 | g.116632379C>T | CA451904505 | RSPH4A | c.2089C>T (p.Leu697=) c.1348C>T (p.Leu450=) c.*150C>T (n.*150C>T) | |
| 6 | g.116632380T>A | CA365413443 | RSPH4A | c.2090T>A (p.Leu697Gln) c.1349T>A (p.Leu450Gln) c.*151T>A (n.*151T>A) | |
| 6 | g.116632380T>C | CA365413444 | RSPH4A | c.2090T>C (p.Leu697Pro) c.1349T>C (p.Leu450Pro) c.*151T>C (n.*151T>C) | dbSNP |
| 6 | g.116632380T>G | CA365413447 | RSPH4A | c.2090T>G (p.Leu697Arg) c.1349T>G (p.Leu450Arg) c.*151T>G (n.*151T>G) | |
| 6 | g.116632380T= | CA1657314491 | RSPH4A | c.2090T= (p.Leu697=) c.1349T= (p.Leu450=) c.*151T= (n.*151T=) | |
| 6 | g.116632381A>C | CA451904508 | RSPH4A | c.2091A>C (p.Leu697=) c.1350A>C (p.Leu450=) c.*152A>C (n.*152A>C) | |
| 6 | g.116632381A>G | CA451904510 | RSPH4A | c.2091A>G (p.Leu697=) c.1350A>G (p.Leu450=) c.*152A>G (n.*152A>G) | gnomAD v4 |
| 6 | g.116632381A>T | CA451904512 | RSPH4A | c.2091A>T (p.Leu697=) c.1350A>T (p.Leu450=) c.*152A>T (n.*152A>T) | |
| 6 | g.116632382C>A | CA365413449 | RSPH4A | c.2092C>A (p.Leu698Ile) c.1351C>A (p.Leu451Ile) c.*153C>A (n.*153C>A) | |
| 6 | g.116632382C>G | CA365413451 | RSPH4A | c.2092C>G (p.Leu698Val) c.1351C>G (p.Leu451Val) c.*153C>G (n.*153C>G) | |
| 6 | g.116632382C>T | CA365413453 | RSPH4A | c.2092C>T (p.Leu698Phe) c.1351C>T (p.Leu451Phe) c.*153C>T (n.*153C>T) | |
| 6 | g.116632383T>A | CA365413455 | RSPH4A | c.2093T>A (p.Leu698His) c.1352T>A (p.Leu451His) c.*154T>A (n.*154T>A) | |
| 6 | g.116632383T>C | CA365413457 | RSPH4A | c.2093T>C (p.Leu698Pro) c.1352T>C (p.Leu451Pro) c.*154T>C (n.*154T>C) | |
| 6 | g.116632383T>G | CA3971110 | RSPH4A | c.2093T>G (p.Leu698Arg) c.1352T>G (p.Leu451Arg) c.*154T>G (n.*154T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632383T= | CA1657314492 | RSPH4A | c.2093T= (p.Leu698=) c.1352T= (p.Leu451=) c.*154T= (n.*154T=) | |
| 6 | g.116632384C>A | CA451904516 | RSPH4A | c.2094C>A (p.Leu698=) c.1353C>A (p.Leu451=) c.*155C>A (n.*155C>A) | |
| 6 | g.116632384C= | CA1657314494 | RSPH4A | c.2094C= (p.Leu698=) c.1353C= (p.Leu451=) c.*155C= (n.*155C=) | |
| 6 | g.116632384C>G | CA451904518 | RSPH4A | c.2094C>G (p.Leu698=) c.1353C>G (p.Leu451=) c.*155C>G (n.*155C>G) | gnomAD v4 |
| 6 | g.116632384C>T | CA3971111 | RSPH4A | c.2094C>T (p.Leu698=) c.1353C>T (p.Leu451=) c.*155C>T (n.*155C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632385G>A | CA3971112 | RSPH4A | c.2095G>A (p.Ala699Thr) c.1354G>A (p.Ala452Thr) c.*156G>A (n.*156G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116632385G>C | CA365413463 | RSPH4A | c.2095G>C (p.Ala699Pro) c.1354G>C (p.Ala452Pro) c.*156G>C (n.*156G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632385G= | CA1657314497 | RSPH4A | c.2095G= (p.Ala699=) c.1354G= (p.Ala452=) c.*156G= (n.*156G=) | |
| 6 | g.116632385G>T | CA365413462 | RSPH4A | c.2095G>T (p.Ala699Ser) c.1354G>T (p.Ala452Ser) c.*156G>T (n.*156G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632386C>A | CA365413464 | RSPH4A | c.2096C>A (p.Ala699Glu) c.1355C>A (p.Ala452Glu) c.*157C>A (n.*157C>A) | gnomAD v4 |
| 6 | g.116632386C= | CA1657314499 | RSPH4A | c.2096C= (p.Ala699=) c.1355C= (p.Ala452=) c.*157C= (n.*157C=) | |
| 6 | g.116632386C>G | CA365413465 | RSPH4A | c.2096C>G (p.Ala699Gly) c.1355C>G (p.Ala452Gly) c.*157C>G (n.*157C>G) | |
| 6 | g.116632386C>T | CA365413466 | RSPH4A | c.2096C>T (p.Ala699Val) c.1355C>T (p.Ala452Val) c.*157C>T (n.*157C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632387A= | CA1657314501 | RSPH4A | c.2097A= (p.Ala699=) c.1356A= (p.Ala452=) c.*158A= (n.*158A=) | |
| 6 | g.116632387A>C | CA451904525 | RSPH4A | c.2097A>C (p.Ala699=) c.1356A>C (p.Ala452=) c.*158A>C (n.*158A>C) | |
| 6 | g.116632387A>G | CA451904524 | RSPH4A | c.2097A>G (p.Ala699=) c.1356A>G (p.Ala452=) c.*158A>G (n.*158A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632387A>T | CA451904523 | RSPH4A | c.2097A>T (p.Ala699=) c.1356A>T (p.Ala452=) c.*158A>T (n.*158A>T) | |
| 6 | g.116632388G>A | CA365413468 | RSPH4A | c.2098G>A (p.Ala700Thr) c.1357G>A (p.Ala453Thr) c.*159G>A (n.*159G>A) | gnomAD v4 |
| 6 | g.116632388G>C | CA365413469 | RSPH4A | c.2098G>C (p.Ala700Pro) c.1357G>C (p.Ala453Pro) c.*159G>C (n.*159G>C) | |
| 6 | g.116632388G>T | CA365413470 | RSPH4A | c.2098G>T (p.Ala700Ser) c.1357G>T (p.Ala453Ser) c.*159G>T (n.*159G>T) | |
| 6 | g.116632389C>A | CA365413473 | RSPH4A | c.2099C>A (p.Ala700Asp) c.1358C>A (p.Ala453Asp) c.*160C>A (n.*160C>A) | gnomAD v4 |
| 6 | g.116632389C= | CA1657314503 | RSPH4A | c.2099C= (p.Ala700=) c.1358C= (p.Ala453=) c.*160C= (n.*160C=) | |
| 6 | g.116632389C>G | CA365413474 | RSPH4A | c.2099C>G (p.Ala700Gly) c.1358C>G (p.Ala453Gly) c.*160C>G (n.*160C>G) | |
| 6 | g.116632389C>T | CA3971113 | RSPH4A | c.2099C>T (p.Ala700Val) c.1358C>T (p.Ala453Val) c.*160C>T (n.*160C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632390T>A | CA451904531 | RSPH4A | c.2100T>A (p.Ala700=) c.1359T>A (p.Ala453=) c.*161T>A (n.*161T>A) | |
| 6 | g.116632390T>C | CA3971114 | RSPH4A | c.2100T>C (p.Ala700=) c.1359T>C (p.Ala453=) c.*161T>C (n.*161T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632390T>G | CA451904535 | RSPH4A | c.2100T>G (p.Ala700=) c.1359T>G (p.Ala453=) c.*161T>G (n.*161T>G) | |
| 6 | g.116632390T= | CA1657314505 | RSPH4A | c.2100T= (p.Ala700=) c.1359T= (p.Ala453=) c.*161T= (n.*161T=) | |
| 6 | g.116632391G>A | CA365413482 | RSPH4A | c.2101G>A (p.Glu701Lys) c.1360G>A (p.Glu454Lys) c.*162G>A (n.*162G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632391G>C | CA3971115 | RSPH4A | c.2101G>C (p.Glu701Gln) c.1360G>C (p.Glu454Gln) c.*162G>C (n.*162G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632391G= | CA1657314507 | RSPH4A | c.2101G= (p.Glu701=) c.1360G= (p.Glu454=) c.*162G= (n.*162G=) | |
| 6 | g.116632391G>T | CA365413480 | RSPH4A | c.2101G>T (p.Glu701Ter) c.1360G>T (p.Glu454Ter) c.*162G>T (n.*162G>T) | |
| 6 | g.116632392A>C | CA365413484 | RSPH4A | c.2102A>C (p.Glu701Ala) c.1361A>C (p.Glu454Ala) c.*163A>C (n.*163A>C) | |
| 6 | g.116632392A>G | CA365413486 | RSPH4A | c.2102A>G (p.Glu701Gly) c.1361A>G (p.Glu454Gly) c.*163A>G (n.*163A>G) | |
| 6 | g.116632392A>T | CA365413487 | RSPH4A | c.2102A>T (p.Glu701Val) c.1361A>T (p.Glu454Val) c.*163A>T (n.*163A>T) | |
| 6 | g.116632393G>A | CA451904540 | RSPH4A | c.2103G>A (p.Glu701=) c.1362G>A (p.Glu454=) c.*164G>A (n.*164G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632393G>C | CA365413489 | RSPH4A | c.2103G>C (p.Glu701Asp) c.1362G>C (p.Glu454Asp) c.*164G>C (n.*164G>C) | COSMIC |
| 6 | g.116632393G= | CA1657314509 | RSPH4A | c.2103G= (p.Glu701=) c.1362G= (p.Glu454=) c.*164G= (n.*164G=) | |
| 6 | g.116632393G>T | CA365413492 | RSPH4A | c.2103G>T (p.Glu701Asp) c.1362G>T (p.Glu454Asp) c.*164G>T (n.*164G>T) | |
| 6 | g.116632394A>C | CA365413494 | RSPH4A | c.2104A>C (p.Asn702His) c.1363A>C (p.Asn455His) c.*165A>C (n.*165A>C) | |
| 6 | g.116632394A>G | CA365413496 | RSPH4A | c.2104A>G (p.Asn702Asp) c.1363A>G (p.Asn455Asp) c.*165A>G (n.*165A>G) | |
| 6 | g.116632394A>T | CA365413497 | RSPH4A | c.2104A>T (p.Asn702Tyr) c.1363A>T (p.Asn455Tyr) c.*165A>T (n.*165A>T) | |
| 6 | g.116632395A>C | CA365413500 | RSPH4A | c.2105A>C (p.Asn702Thr) c.1364A>C (p.Asn455Thr) c.*166A>C (n.*166A>C) | |
| 6 | g.116632395A>G | CA365413502 | RSPH4A | c.2105A>G (p.Asn702Ser) c.1364A>G (p.Asn455Ser) c.*166A>G (n.*166A>G) | gnomAD v4 |
| 6 | g.116632395A>T | CA365413503 | RSPH4A | c.2105A>T (p.Asn702Ile) c.1364A>T (p.Asn455Ile) c.*166A>T (n.*166A>T) | |
| 6 | g.116632396T>A | CA365413506 | RSPH4A | c.2106T>A (p.Asn702Lys) c.1365T>A (p.Asn455Lys) c.*167T>A (n.*167T>A) | |
| 6 | g.116632396T>C | CA451904546 | RSPH4A | c.2106T>C (p.Asn702=) c.1365T>C (p.Asn455=) c.*167T>C (n.*167T>C) | |
| 6 | g.116632396T>G | CA365413508 | RSPH4A | c.2106T>G (p.Asn702Lys) c.1365T>G (p.Asn455Lys) c.*167T>G (n.*167T>G) | |
| 6 | g.116632397G>A | CA365413510 | RSPH4A | c.2107G>A (p.Glu703Lys) c.1366G>A (p.Glu456Lys) c.*168G>A (n.*168G>A) | gnomAD v4 |
| 6 | g.116632397G>C | CA365413512 | RSPH4A | c.2107G>C (p.Glu703Gln) c.1366G>C (p.Glu456Gln) c.*168G>C (n.*168G>C) | |
| 6 | g.116632397G>T | CA365413513 | RSPH4A | c.2107G>T (p.Glu703Ter) c.1366G>T (p.Glu456Ter) c.*168G>T (n.*168G>T) | |
| 6 | g.116632398A>C | CA365413516 | RSPH4A | c.2108A>C (p.Glu703Ala) c.1367A>C (p.Glu456Ala) c.*169A>C (n.*169A>C) | |
| 6 | g.116632398A>G | CA365413518 | RSPH4A | c.2108A>G (p.Glu703Gly) c.1367A>G (p.Glu456Gly) c.*169A>G (n.*169A>G) | |
| 6 | g.116632398A>T | CA365413519 | RSPH4A | c.2108A>T (p.Glu703Val) c.1367A>T (p.Glu456Val) c.*169A>T (n.*169A>T) | |
| 6 | g.116632399A>C | CA365413521 | RSPH4A | c.2109A>C (p.Glu703Asp) c.1368A>C (p.Glu456Asp) c.*170A>C (n.*170A>C) | |
| 6 | g.116632399A>G | CA451904552 | RSPH4A | c.2109A>G (p.Glu703=) c.1368A>G (p.Glu456=) c.*170A>G (n.*170A>G) | |
| 6 | g.116632399A>T | CA365413523 | RSPH4A | c.2109A>T (p.Glu703Asp) c.1368A>T (p.Glu456Asp) c.*170A>T (n.*170A>T) | |
| 6 | g.116632400G>A | CA365413525 | RSPH4A | c.2110G>A (p.Glu704Lys) c.1369G>A (p.Glu457Lys) c.*171G>A (n.*171G>A) | |
| 6 | g.116632400G>C | CA365413527 | RSPH4A | c.2110G>C (p.Glu704Gln) c.1369G>C (p.Glu457Gln) c.*171G>C (n.*171G>C) | |
| 6 | g.116632400G= | CA1657314510 | RSPH4A | c.2110G= (p.Glu704=) c.1369G= (p.Glu457=) c.*171G= (n.*171G=) | |
| 6 | g.116632400G>T | CA3971116 | RSPH4A | c.2110G>T (p.Glu704Ter) c.1369G>T (p.Glu457Ter) c.*171G>T (n.*171G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632401A>C | CA365413532 | RSPH4A | c.2111A>C (p.Glu704Ala) c.1370A>C (p.Glu457Ala) c.*172A>C (n.*172A>C) | |
| 6 | g.116632401A>G | CA365413534 | RSPH4A | c.2111A>G (p.Glu704Gly) c.1370A>G (p.Glu457Gly) c.*172A>G (n.*172A>G) | |
| 6 | g.116632401A>T | CA365413530 | RSPH4A | c.2111A>T (p.Glu704Val) c.1370A>T (p.Glu457Val) c.*172A>T (n.*172A>T) | |
| 6 | g.116632402A= | CA1657314511 | RSPH4A | c.2112A= (p.Glu704=) c.1371A= (p.Glu457=) c.*173A= (n.*173A=) | |
| 6 | g.116632402A>C | CA3971117 | RSPH4A | c.2112A>C (p.Glu704Asp) c.1371A>C (p.Glu457Asp) c.*173A>C (n.*173A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632402A>G | CA451904560 | RSPH4A | c.2112A>G (p.Glu704=) c.1371A>G (p.Glu457=) c.*173A>G (n.*173A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632402A>T | CA365413538 | RSPH4A | c.2112A>T (p.Glu704Asp) c.1371A>T (p.Glu457Asp) c.*173A>T (n.*173A>T) | |
| 6 | g.116632403T>A | CA365413540 | RSPH4A | c.2113T>A (p.Ser705Thr) c.1372T>A (p.Ser458Thr) c.*174T>A (n.*174T>A) | |
| 6 | g.116632403T>C | CA365413542 | RSPH4A | c.2113T>C (p.Ser705Pro) c.1372T>C (p.Ser458Pro) c.*174T>C (n.*174T>C) | |
| 6 | g.116632403T>G | CA365413544 | RSPH4A | c.2113T>G (p.Ser705Ala) c.1372T>G (p.Ser458Ala) c.*174T>G (n.*174T>G) | |
| 6 | g.116632404C>A | CA365413546 | RSPH4A | c.2114C>A (p.Ser705Tyr) c.1373C>A (p.Ser458Tyr) c.*175C>A (n.*175C>A) | |
| 6 | g.116632404C>G | CA365413548 | RSPH4A | c.2114C>G (p.Ser705Cys) c.1373C>G (p.Ser458Cys) c.*175C>G (n.*175C>G) | dbSNP |
| 6 | g.116632404C>T | CA365413550 | RSPH4A | c.2114C>T (p.Ser705Phe) c.1373C>T (p.Ser458Phe) c.*175C>T (n.*175C>T) | |
| 6 | g.116632404_116632419delinsCTGAGGAAGATGAAGA | CA1657314513 | RSPH4A | c.2114_2129delinsCTGAGGAAGATGAAGA (p.Ser705=) c.1373_1388delinsCTGAGGAAGATGAAGA (p.Ser458=) c.*175_*190delinsCTGAGGAAGATGAAGA (n.*175_*190delinsCTGAGGAAGATGAAGA) | |
| 6 | g.116632405T>A | CA451904562 | RSPH4A | c.2115T>A (p.Ser705=) c.1374T>A (p.Ser458=) c.*176T>A (n.*176T>A) | |
| 6 | g.116632405T>C | CA451904563 | RSPH4A | c.2115T>C (p.Ser705=) c.1374T>C (p.Ser458=) c.*176T>C (n.*176T>C) | |
| 6 | g.116632405T>G | CA451904565 | RSPH4A | c.2115T>G (p.Ser705=) c.1374T>G (p.Ser458=) c.*176T>G (n.*176T>G) | |
| 6 | g.116632417_116632431dup | CA1657314515 | RSPH4A | c.2127_2141dup (p.Asp713_Asp714insGluAspGluGluAsp) c.1386_1400dup (p.Asp466_Asp467insGluAspGluGluAsp) c.*188_*202dup (n.*188_*202dup) | dbSNP gnomAD v4 |
| 6 | g.116632417_116632431del | CA3971118 | RSPH4A | c.2127_2141del (p.Glu709_Asp713del) c.1386_1400del (p.Glu462_Asp466del) c.*188_*202del (n.*188_*202del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632406G>A | CA365413554 | RSPH4A | c.2116G>A (p.Glu706Lys) c.1375G>A (p.Glu459Lys) c.*177G>A (n.*177G>A) | dbSNP |
| 6 | g.116632406G>C | CA365413555 | RSPH4A | c.2116G>C (p.Glu706Gln) c.1375G>C (p.Glu459Gln) c.*177G>C (n.*177G>C) | |
| 6 | g.116632406G= | CA1657314516 | RSPH4A | c.2116G= (p.Glu706=) c.1375G= (p.Glu459=) c.*177G= (n.*177G=) | |
| 6 | g.116632406G>T | CA365413556 | RSPH4A | c.2116G>T (p.Glu706Ter) c.1375G>T (p.Glu459Ter) c.*177G>T (n.*177G>T) | |
| 6 | g.116632407A>C | CA365413564 | RSPH4A | c.2117A>C (p.Glu706Ala) c.1376A>C (p.Glu459Ala) c.*178A>C (n.*178A>C) | |
| 6 | g.116632407A>G | CA365413561 | RSPH4A | c.2117A>G (p.Glu706Gly) c.1376A>G (p.Glu459Gly) c.*178A>G (n.*178A>G) | |
| 6 | g.116632407A>T | CA365413560 | RSPH4A | c.2117A>T (p.Glu706Val) c.1376A>T (p.Glu459Val) c.*178A>T (n.*178A>T) | |
| 6 | g.116632408G>A | CA451904571 | RSPH4A | c.2118G>A (p.Glu706=) c.1377G>A (p.Glu459=) c.*179G>A (n.*179G>A) | dbSNP |
| 6 | g.116632408G>C | CA365413566 | RSPH4A | c.2118G>C (p.Glu706Asp) c.1377G>C (p.Glu459Asp) c.*179G>C (n.*179G>C) | |
| 6 | g.116632408G= | CA1657314518 | RSPH4A | c.2118G= (p.Glu706=) c.1377G= (p.Glu459=) c.*179G= (n.*179G=) | |
| 6 | g.116632408G>T | CA365413568 | RSPH4A | c.2118G>T (p.Glu706Asp) c.1377G>T (p.Glu459Asp) c.*179G>T (n.*179G>T) | |
| 6 | g.116632409G>A | CA145928913 | RSPH4A | c.2119G>A (p.Glu707Lys) c.1378G>A (p.Glu460Lys) c.*180G>A (n.*180G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632409G>C | CA3971120 | RSPH4A | c.2119G>C (p.Glu707Gln) c.1378G>C (p.Glu460Gln) c.*180G>C (n.*180G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632409G= | CA1657314520 | RSPH4A | c.2119G= (p.Glu707=) c.1378G= (p.Glu460=) c.*180G= (n.*180G=) | |
| 6 | g.116632409G>T | CA365413573 | RSPH4A | c.2119G>T (p.Glu707Ter) c.1378G>T (p.Glu460Ter) c.*180G>T (n.*180G>T) | |
| 6 | g.116632417_116632422dup | CA3971119 | RSPH4A | c.2127_2132dup (p.Glu711_Glu712insAspGlu) c.1386_1391dup (p.Glu464_Glu465insAspGlu) c.*188_*193dup (n.*188_*193dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632417_116632422del | CA2578721971 | RSPH4A | c.2127_2132del (p.Asp710_Glu711del) c.1386_1391del (p.Asp463_Glu464del) c.*188_*193del (n.*188_*193del) | gnomAD v4 |
| 6 | g.116632410A>C | CA365413576 | RSPH4A | c.2120A>C (p.Glu707Ala) c.1379A>C (p.Glu460Ala) c.*181A>C (n.*181A>C) | |
| 6 | g.116632410A>G | CA365413578 | RSPH4A | c.2120A>G (p.Glu707Gly) c.1379A>G (p.Glu460Gly) c.*181A>G (n.*181A>G) | |
| 6 | g.116632410A>T | CA365413580 | RSPH4A | c.2120A>T (p.Glu707Val) c.1379A>T (p.Glu460Val) c.*181A>T (n.*181A>T) | |
| 6 | g.116632411A>C | CA365413582 | RSPH4A | c.2121A>C (p.Glu707Asp) c.1380A>C (p.Glu460Asp) c.*182A>C (n.*182A>C) | |
| 6 | g.116632411A>G | CA451904579 | RSPH4A | c.2121A>G (p.Glu707=) c.1380A>G (p.Glu460=) c.*182A>G (n.*182A>G) | |
| 6 | g.116632411A>T | CA365413584 | RSPH4A | c.2121A>T (p.Glu707Asp) c.1380A>T (p.Glu460Asp) c.*182A>T (n.*182A>T) | |
| 6 | g.116632412G>A | CA365413587 | RSPH4A | c.2122G>A (p.Asp708Asn) c.1381G>A (p.Asp461Asn) c.*183G>A (n.*183G>A) | |
| 6 | g.116632412G>C | CA365413588 | RSPH4A | c.2122G>C (p.Asp708His) c.1381G>C (p.Asp461His) c.*183G>C (n.*183G>C) | |
| 6 | g.116632412G>T | CA365413590 | RSPH4A | c.2122G>T (p.Asp708Tyr) c.1381G>T (p.Asp461Tyr) c.*183G>T (n.*183G>T) | |
| 6 | g.116632413A= | CA1657314521 | RSPH4A | c.2123A= (p.Asp708=) c.1382A= (p.Asp461=) c.*184A= (n.*184A=) | |
| 6 | g.116632413A>C | CA365413594 | RSPH4A | c.2123A>C (p.Asp708Ala) c.1382A>C (p.Asp461Ala) c.*184A>C (n.*184A>C) | |
| 6 | g.116632413A>G | CA365413596 | RSPH4A | c.2123A>G (p.Asp708Gly) c.1382A>G (p.Asp461Gly) c.*184A>G (n.*184A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632413A>T | CA365413592 | RSPH4A | c.2123A>T (p.Asp708Val) c.1382A>T (p.Asp461Val) c.*184A>T (n.*184A>T) | |
| 6 | g.116632414T>A | CA365413598 | RSPH4A | c.2124T>A (p.Asp708Glu) c.1383T>A (p.Asp461Glu) c.*185T>A (n.*185T>A) | |
| 6 | g.116632414T>C | CA3971121 | RSPH4A | c.2124T>C (p.Asp708=) c.1383T>C (p.Asp461=) c.*185T>C (n.*185T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116632414T>G | CA365413600 | RSPH4A | c.2124T>G (p.Asp708Glu) c.1383T>G (p.Asp461Glu) c.*185T>G (n.*185T>G) | |
| 6 | g.116632414T= | CA1657314523 | RSPH4A | c.2124T= (p.Asp708=) c.1383T= (p.Asp461=) c.*185T= (n.*185T=) | |
| 6 | g.116632415G>A | CA365413601 | RSPH4A | c.2125G>A (p.Glu709Lys) c.1384G>A (p.Glu462Lys) c.*186G>A (n.*186G>A) | |
| 6 | g.116632415G>C | CA365413603 | RSPH4A | c.2125G>C (p.Glu709Gln) c.1384G>C (p.Glu462Gln) c.*186G>C (n.*186G>C) | |
| 6 | g.116632415G>T | CA365413605 | RSPH4A | c.2125G>T (p.Glu709Ter) c.1384G>T (p.Glu462Ter) c.*186G>T (n.*186G>T) | |
| 6 | g.116632416A>C | CA365413606 | RSPH4A | c.2126A>C (p.Glu709Ala) c.1385A>C (p.Glu462Ala) c.*187A>C (n.*187A>C) | |
| 6 | g.116632416A>G | CA365413609 | RSPH4A | c.2126A>G (p.Glu709Gly) c.1385A>G (p.Glu462Gly) c.*187A>G (n.*187A>G) | |
| 6 | g.116632416A>T | CA365413611 | RSPH4A | c.2126A>T (p.Glu709Val) c.1385A>T (p.Glu462Val) c.*187A>T (n.*187A>T) | |
| 6 | g.116632417A= | CA1657314525 | RSPH4A | c.2127A= (p.Glu709=) c.1386A= (p.Glu462=) c.*188A= (n.*188A=) | |
| 6 | g.116632417A>C | CA365413613 | RSPH4A | c.2127A>C (p.Glu709Asp) c.1386A>C (p.Glu462Asp) c.*188A>C (n.*188A>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.116632417A>G | CA451904587 | RSPH4A | c.2127A>G (p.Glu709=) c.1386A>G (p.Glu462=) c.*188A>G (n.*188A>G) | |
| 6 | g.116632417A>T | CA365413615 | RSPH4A | c.2127A>T (p.Glu709Asp) c.1386A>T (p.Glu462Asp) c.*188A>T (n.*188A>T) | |
| 6 | g.116632418G>A | CA365413621 | RSPH4A | c.2128G>A (p.Asp710Asn) c.1387G>A (p.Asp463Asn) c.*189G>A (n.*189G>A) | |
| 6 | g.116632418G>C | CA365413618 | RSPH4A | c.2128G>C (p.Asp710His) c.1387G>C (p.Asp463His) c.*189G>C (n.*189G>C) | |
| 6 | g.116632418G>T | CA365413617 | RSPH4A | c.2128G>T (p.Asp710Tyr) c.1387G>T (p.Asp463Tyr) c.*189G>T (n.*189G>T) | |
| 6 | g.116632419A>C | CA365413623 | RSPH4A | c.2129A>C (p.Asp710Ala) c.1388A>C (p.Asp463Ala) c.*190A>C (n.*190A>C) | |
| 6 | g.116632419A>G | CA365413625 | RSPH4A | c.2129A>G (p.Asp710Gly) c.1388A>G (p.Asp463Gly) c.*190A>G (n.*190A>G) | |
| 6 | g.116632419A>T | CA365413627 | RSPH4A | c.2129A>T (p.Asp710Val) c.1388A>T (p.Asp463Val) c.*190A>T (n.*190A>T) | |
| 6 | g.116632420T>A | CA365413629 | RSPH4A | c.2130T>A (p.Asp710Glu) c.1389T>A (p.Asp463Glu) c.*191T>A (n.*191T>A) | |
| 6 | g.116632420T>C | CA451904595 | RSPH4A | c.2130T>C (p.Asp710=) c.1389T>C (p.Asp463=) c.*191T>C (n.*191T>C) | |
| 6 | g.116632420T>G | CA365413631 | RSPH4A | c.2130T>G (p.Asp710Glu) c.1389T>G (p.Asp463Glu) c.*191T>G (n.*191T>G) | gnomAD v4 |
| 6 | g.116632421G>A | CA3971122 | RSPH4A | c.2131G>A (p.Glu711Lys) c.1390G>A (p.Glu464Lys) c.*192G>A (n.*192G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632421G>C | CA365413634 | RSPH4A | c.2131G>C (p.Glu711Gln) c.1390G>C (p.Glu464Gln) c.*192G>C (n.*192G>C) | |
| 6 | g.116632421G= | CA1657314527 | RSPH4A | c.2131G= (p.Glu711=) c.1390G= (p.Glu464=) c.*192G= (n.*192G=) | |
| 6 | g.116632421G>T | CA365413635 | RSPH4A | c.2131G>T (p.Glu711Ter) c.1390G>T (p.Glu464Ter) c.*192G>T (n.*192G>T) | |
| 6 | g.116632422A>C | CA365413638 | RSPH4A | c.2132A>C (p.Glu711Ala) c.1391A>C (p.Glu464Ala) c.*193A>C (n.*193A>C) | |
| 6 | g.116632422A>G | CA365413640 | RSPH4A | c.2132A>G (p.Glu711Gly) c.1391A>G (p.Glu464Gly) c.*193A>G (n.*193A>G) | |
| 6 | g.116632422A>T | CA365413642 | RSPH4A | c.2132A>T (p.Glu711Val) c.1391A>T (p.Glu464Val) c.*193A>T (n.*193A>T) | gnomAD v4 |
| 6 | g.116632423G>A | CA451904598 | RSPH4A | c.2133G>A (p.Glu711=) c.1392G>A (p.Glu464=) c.*194G>A (n.*194G>A) | |
| 6 | g.116632423G>C | CA365413644 | RSPH4A | c.2133G>C (p.Glu711Asp) c.1392G>C (p.Glu464Asp) c.*194G>C (n.*194G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632423G= | CA1657314529 | RSPH4A | c.2133G= (p.Glu711=) c.1392G= (p.Glu464=) c.*194G= (n.*194G=) | |
| 6 | g.116632423G>T | CA365413645 | RSPH4A | c.2133G>T (p.Glu711Asp) c.1392G>T (p.Glu464Asp) c.*194G>T (n.*194G>T) | |
| 6 | g.116632424G>A | CA365413650 | RSPH4A | c.2134G>A (p.Glu712Lys) c.1393G>A (p.Glu465Lys) c.*195G>A (n.*195G>A) | |
| 6 | g.116632424G>C | CA365413651 | RSPH4A | c.2134G>C (p.Glu712Gln) c.1393G>C (p.Glu465Gln) c.*195G>C (n.*195G>C) | |
| 6 | g.116632424G>T | CA365413648 | RSPH4A | c.2134G>T (p.Glu712Ter) c.1393G>T (p.Glu465Ter) c.*195G>T (n.*195G>T) | |
| 6 | g.116632425A= | CA1657314530 | RSPH4A | c.2135A= (p.Glu712=) c.1394A= (p.Glu465=) c.*196A= (n.*196A=) | |
| 6 | g.116632425A>C | CA365413655 | RSPH4A | c.2135A>C (p.Glu712Ala) c.1394A>C (p.Glu465Ala) c.*196A>C (n.*196A>C) | gnomAD v4 |
| 6 | g.116632425A>G | CA3971123 | RSPH4A | c.2135A>G (p.Glu712Gly) c.1394A>G (p.Glu465Gly) c.*196A>G (n.*196A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116632425A>T | CA365413657 | RSPH4A | c.2135A>T (p.Glu712Val) c.1394A>T (p.Glu465Val) c.*196A>T (n.*196A>T) | |
| 6 | g.116632426A>C | CA365413660 | RSPH4A | c.2136A>C (p.Glu712Asp) c.1395A>C (p.Glu465Asp) c.*197A>C (n.*197A>C) | |
| 6 | g.116632426A>G | CA451904606 | RSPH4A | c.2136A>G (p.Glu712=) c.1395A>G (p.Glu465=) c.*197A>G (n.*197A>G) | gnomAD v4 |
| 6 | g.116632426A>T | CA365413661 | RSPH4A | c.2136A>T (p.Glu712Asp) c.1395A>T (p.Glu465Asp) c.*197A>T (n.*197A>T) | |
| 6 | g.116632427G>A | CA365413664 | RSPH4A | c.2137G>A (p.Asp713Asn) c.1396G>A (p.Asp466Asn) c.*198G>A (n.*198G>A) | gnomAD v4 |
| 6 | g.116632427G>C | CA365413666 | RSPH4A | c.2137G>C (p.Asp713His) c.1396G>C (p.Asp466His) c.*198G>C (n.*198G>C) | |
| 6 | g.116632427G>T | CA365413667 | RSPH4A | c.2137G>T (p.Asp713Tyr) c.1396G>T (p.Asp466Tyr) c.*198G>T (n.*198G>T) | |
| 6 | g.116632428A>C | CA365413670 | RSPH4A | c.2138A>C (p.Asp713Ala) c.1397A>C (p.Asp466Ala) c.*199A>C (n.*199A>C) | |
| 6 | g.116632428A>G | CA365413672 | RSPH4A | c.2138A>G (p.Asp713Gly) c.1397A>G (p.Asp466Gly) c.*199A>G (n.*199A>G) | |
| 6 | g.116632428A>T | CA365413673 | RSPH4A | c.2138A>T (p.Asp713Val) c.1397A>T (p.Asp466Val) c.*199A>T (n.*199A>T) | |
| 6 | g.116632429T>A | CA3971124 | RSPH4A | c.2139T>A (p.Asp713Glu) c.1398T>A (p.Asp466Glu) c.*200T>A (n.*200T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116632429T>C | CA451904608 | RSPH4A | c.2139T>C (p.Asp713=) c.1398T>C (p.Asp466=) c.*200T>C (n.*200T>C) | dbSNP gnomAD v4 |
| 6 | g.116632429T>G | CA365413676 | RSPH4A | c.2139T>G (p.Asp713Glu) c.1398T>G (p.Asp466Glu) c.*200T>G (n.*200T>G) | |
| 6 | g.116632429T= | CA1657314532 | RSPH4A | c.2139T= (p.Asp713=) c.1398T= (p.Asp466=) c.*200T= (n.*200T=) | |
| 6 | g.116632430G>A | CA365413677 | RSPH4A | c.2140G>A (p.Asp714Asn) c.1399G>A (p.Asp467Asn) c.*201G>A (n.*201G>A) | |
| 6 | g.116632430G>C | CA365413678 | RSPH4A | c.2140G>C (p.Asp714His) c.1399G>C (p.Asp467His) c.*201G>C (n.*201G>C) | |
| 6 | g.116632430G>T | CA365413680 | RSPH4A | c.2140G>T (p.Asp714Tyr) c.1399G>T (p.Asp467Tyr) c.*201G>T (n.*201G>T) | |
| 6 | g.116632430_116632433delinsGATT | CA1657314534 | RSPH4A | c.2140_2143delinsGATT (p.Asp714=) c.1399_1402delinsGATT (p.Asp467=) c.*201_*204delinsGATT (n.*201_*204delinsGATT) | |
| 6 | g.116632431A>C | CA365413682 | RSPH4A | c.2141A>C (p.Asp714Ala) c.1400A>C (p.Asp467Ala) c.*202A>C (n.*202A>C) | |
| 6 | g.116632431A>G | CA365413686 | RSPH4A | c.2141A>G (p.Asp714Gly) c.1400A>G (p.Asp467Gly) c.*202A>G (n.*202A>G) | |
| 6 | g.116632431A>T | CA365413684 | RSPH4A | c.2141A>T (p.Asp714Val) c.1400A>T (p.Asp467Val) c.*202A>T (n.*202A>T) | |
| 6 | g.116632433_116632435del | CA1657314535 | RSPH4A | c.2143_2145del (p.Tyr715del) c.1402_1404del (p.Tyr468del) c.*204_*206del (n.*204_*206del) | dbSNP gnomAD v4 |
| 6 | g.116632432T>A | CA365413688 | RSPH4A | c.2142T>A (p.Asp714Glu) c.1401T>A (p.Asp467Glu) c.*203T>A (n.*203T>A) | |
| 6 | g.116632432T>C | CA451904611 | RSPH4A | c.2142T>C (p.Asp714=) c.1401T>C (p.Asp467=) c.*203T>C (n.*203T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632432T>G | CA365413690 | RSPH4A | c.2142T>G (p.Asp714Glu) c.1401T>G (p.Asp467Glu) c.*203T>G (n.*203T>G) | |
| 6 | g.116632432T= | CA1657314537 | RSPH4A | c.2142T= (p.Asp714=) c.1401T= (p.Asp467=) c.*203T= (n.*203T=) | |
| 6 | g.116632433T>A | CA365413693 | RSPH4A | c.2143T>A (p.Tyr715Asn) c.1402T>A (p.Tyr468Asn) c.*204T>A (n.*204T>A) | |
| 6 | g.116632433T>C | CA365413694 | RSPH4A | c.2143T>C (p.Tyr715His) c.1402T>C (p.Tyr468His) c.*204T>C (n.*204T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632433T>G | CA365413696 | RSPH4A | c.2143T>G (p.Tyr715Asp) c.1402T>G (p.Tyr468Asp) c.*204T>G (n.*204T>G) | |
| 6 | g.116632433T= | CA1657314538 | RSPH4A | c.2143T= (p.Tyr715=) c.1402T= (p.Tyr468=) c.*204T= (n.*204T=) | |
| 6 | g.116632434A>C | CA365413698 | RSPH4A | c.2144A>C (p.Tyr715Ser) c.1403A>C (p.Tyr468Ser) c.*205A>C (n.*205A>C) | |
| 6 | g.116632434A>G | CA365413700 | RSPH4A | c.2144A>G (p.Tyr715Cys) c.1403A>G (p.Tyr468Cys) c.*205A>G (n.*205A>G) | |
| 6 | g.116632434A>T | CA365413702 | RSPH4A | c.2144A>T (p.Tyr715Phe) c.1403A>T (p.Tyr468Phe) c.*205A>T (n.*205A>T) | |
| 6 | g.116632435T>A | CA365413704 | RSPH4A | c.2145T>A (p.Tyr715Ter) c.1404T>A (p.Tyr468Ter) c.*206T>A (n.*206T>A) | |
| 6 | g.116632435T>C | CA451904615 | RSPH4A | c.2145T>C (p.Tyr715=) c.1404T>C (p.Tyr468=) c.*206T>C (n.*206T>C) | |
| 6 | g.116632435T>G | CA365413706 | RSPH4A | c.2145T>G (p.Tyr715Ter) c.1404T>G (p.Tyr468Ter) c.*206T>G (n.*206T>G) | |
| 6 | g.116632436G>A | CA365413710 | RSPH4A | c.2146G>A (p.Asp716Asn) c.1405G>A (p.Asp469Asn) c.*207G>A (n.*207G>A) | |
| 6 | g.116632436G>C | CA365413712 | RSPH4A | c.2146G>C (p.Asp716His) c.1405G>C (p.Asp469His) c.*207G>C (n.*207G>C) | |
| 6 | g.116632436G>T | CA365413708 | RSPH4A | c.2146G>T (p.Asp716Tyr) c.1405G>T (p.Asp469Tyr) c.*207G>T (n.*207G>T) | gnomAD v4 |
| 6 | g.116632437A>C | CA365413714 | RSPH4A | c.2147A>C (p.Asp716Ala) c.1406A>C (p.Asp469Ala) c.*208A>C (n.*208A>C) | |
| 6 | g.116632437A>G | CA365413716 | RSPH4A | c.2147A>G (p.Asp716Gly) c.1406A>G (p.Asp469Gly) c.*208A>G (n.*208A>G) | |
| 6 | g.116632437A>T | CA365413718 | RSPH4A | c.2147A>T (p.Asp716Val) c.1406A>T (p.Asp469Val) c.*208A>T (n.*208A>T) | |
| 6 | g.116632438C>A | CA365413721 | RSPH4A | c.2148C>A (p.Asp716Glu) c.1407C>A (p.Asp469Glu) c.*209C>A (n.*209C>A) | |
| 6 | g.116632438C= | CA1657314540 | RSPH4A | c.2148C= (p.Asp716=) c.1407C= (p.Asp469=) c.*209C= (n.*209C=) | |
| 6 | g.116632438C>G | CA365413722 | RSPH4A | c.2148C>G (p.Asp716Glu) c.1407C>G (p.Asp469Glu) c.*209C>G (n.*209C>G) | |
| 6 | g.116632438C>T | CA451904618 | RSPH4A | c.2148C>T (p.Asp716=) c.1407C>T (p.Asp469=) c.*209C>T (n.*209C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632439T>A | CA365413725 | RSPH4A | c.2149T>A (p.Ter717Lys) c.1408T>A (p.Ter470Lys) c.*210T>A (n.*210T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632439T>C | CA365413727 | RSPH4A | c.2149T>C (p.Ter717Gln) c.1408T>C (p.Ter470Gln) c.*210T>C (n.*210T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632439T>G | CA365413729 | RSPH4A | c.2149T>G (p.Ter717Glu) c.1408T>G (p.Ter470Glu) c.*210T>G (n.*210T>G) | |
| 6 | g.116632439T= | CA1657314542 | RSPH4A | c.2149T= (p.Ter717=) c.1408T= (p.Ter470=) c.*210T= (n.*210T=) | |
| 6 | g.116632440A>C | CA365413731 | RSPH4A | c.2150A>C (p.Ter717Ser) c.1409A>C (p.Ter470Ser) c.*211A>C (n.*211A>C) | |
| 6 | g.116632440A>G | CA451904620 | RSPH4A | c.2150A>G (p.Ter717=) c.1409A>G (p.Ter470=) c.*211A>G (n.*211A>G) | |
| 6 | g.116632440A>T | CA365413733 | RSPH4A | c.2150A>T (p.Ter717Leu) c.1409A>T (p.Ter470Leu) c.*211A>T (n.*211A>T) | |
| 6 | g.116632441A>C | CA365413735 | RSPH4A | c.2151A>C (p.Ter717Tyr) c.1410A>C (p.Ter470Tyr) c.*212A>C (n.*212A>C) | |
| 6 | g.116632441A>G | CA451904621 | RSPH4A | c.2151A>G (p.Ter717=) c.1410A>G (p.Ter470=) c.*212A>G (n.*212A>G) | |
| 6 | g.116632441A>T | CA365413737 | RSPH4A | c.2151A>T (p.Ter717Tyr) c.1410A>T (p.Ter470Tyr) c.*212A>T (n.*212A>T) | |
| 6 | g.116632442T>C | CA2680119284 | RSPH4A | c.*1T>C (n.*1T>C) c.*213T>C (n.*213T>C) | gnomAD v4 |
| 6 | g.116632442T= | CA1657314543 | RSPH4A | c.*1T= (n.*1T=) c.*213T= (n.*213T=) | |
| 6 | g.116632443A>C | CA2578721972 | RSPH4A | c.*2A>C (n.*2A>C) c.*214A>C (n.*214A>C) | |
| 6 | g.116632443A>G | CA2680119287 | RSPH4A | c.*2A>G (n.*2A>G) c.*214A>G (n.*214A>G) | gnomAD v4 |
| 6 | g.116632445dup | CA570038190 | RSPH4A | c.*4dup (n.*4dup) c.*216dup (n.*216dup) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632446C= | CA1657314545 | RSPH4A | c.*5C= (n.*5C=) c.*217C= (n.*217C=) | |
| 6 | g.116632446C>T | CA1093532275 | RSPH4A | c.*5C>T (n.*5C>T) c.*217C>T (n.*217C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116632448_116632449del | CA2680119289 | RSPH4A | c.*7_*8del (n.*7_*8del) c.*219_*220del (n.*219_*220del) | gnomAD v4 |
| 6 | g.116632448T>C | CA570038191 | RSPH4A | c.*7T>C (n.*7T>C) c.*219T>C (n.*219T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116632448T= | CA1657314546 | RSPH4A | c.*7T= (n.*7T=) c.*219T= (n.*219T=) | |
| 6 | g.116632449A= | CA1657314547 | RSPH4A | c.*8A= (n.*8A=) c.*220A= (n.*220A=) | |
| 6 | g.116632449A>G | CA3971125 | RSPH4A | c.*8A>G (n.*8A>G) c.*220A>G (n.*220A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |