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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 |
|---|---|---|---|---|---|
| X | g.18671965_18671968del | CA2693229392 | RS1 | c.52+54_52+57del (n.52+54_52+57del) | gnomAD v4 |
| X | g.18671968_18671972del | CA2693229394 | RS1 | c.52+50_52+54del (n.52+50_52+54del) | gnomAD v4 |
| X | g.18671964A>G | CA2693229396 | RS1 | c.52+53T>C (n.52+53T>C) | gnomAD v4 |
| X | g.18671967A>G | CA2693229397 | RS1 | c.52+50T>C (n.52+50T>C) | gnomAD v4 |
| X | g.18671969A= | CA2417996984 | RS1 | c.52+48T= (n.52+48T=) | |
| X | g.18671969A>G | CA2693229398 | RS1 | c.52+48T>C (n.52+48T>C) | gnomAD v4 |
| X | g.18671969A>T | CA873675510 | RS1 | c.52+48T>A (n.52+48T>A) | dbSNP |
| X | g.18671970T>G | CA2693229399 | RS1 | c.52+47A>C (n.52+47A>C) | gnomAD v4 |
| X | g.18671972A>G | CA2693229400 | RS1 | c.52+45T>C (n.52+45T>C) | gnomAD v4 |
| X | g.18671973T>A | CA2579563866 | RS1 | c.52+44A>T (n.52+44A>T) | |
| X | g.18671974G>A | CA640517818 | RS1 | c.52+43C>T (n.52+43C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18671974G= | CA2417996985 | RS1 | c.52+43C= (n.52+43C=) | |
| X | g.18671974G>T | CA2579563867 | RS1 | c.52+43C>A (n.52+43C>A) | gnomAD v4 |
| X | g.18671975T>C | CA2693229401 | RS1 | c.52+42A>G (n.52+42A>G) | gnomAD v4 |
| X | g.18671976A>G | CA2693229402 | RS1 | c.52+41T>C (n.52+41T>C) | gnomAD v4 |
| X | g.18671977T>C | CA327014932 | RS1 | c.52+40A>G (n.52+40A>G) | dbSNP gnomAD v4 |
| X | g.18671977T>G | CA640517819 | RS1 | c.52+40A>C (n.52+40A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18671977T= | CA2417996986 | RS1 | c.52+40A= (n.52+40A=) | |
| X | g.18671978T>C | CA2693229403 | RS1 | c.52+39A>G (n.52+39A>G) | gnomAD v4 |
| X | g.18671978T>G | CA327014933 | RS1 | c.52+39A>C (n.52+39A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18671978T= | CA2417996987 | RS1 | c.52+39A= (n.52+39A=) | |
| X | g.18671979A>G | CA2693229404 | RS1 | c.52+38T>C (n.52+38T>C) | gnomAD v4 |
| X | g.18671979A>T | CA2579563868 | RS1 | c.52+38T>A (n.52+38T>A) | |
| X | g.18671981G>A | CA873675525 | RS1 | c.52+36C>T (n.52+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18671981G= | CA2417996988 | RS1 | c.52+36C= (n.52+36C=) | |
| X | g.18671981G>T | CA2693229405 | RS1 | c.52+36C>A (n.52+36C>A) | gnomAD v4 |
| X | g.18671982T>C | CA2693229406 | RS1 | c.52+35A>G (n.52+35A>G) | gnomAD v4 |
| X | g.18671983A>T | CA2693229407 | RS1 | c.52+34T>A (n.52+34T>A) | gnomAD v4 |
| X | g.18671984T>C | CA2693229408 | RS1 | c.52+33A>G (n.52+33A>G) | gnomAD v4 |
| X | g.18671984T>G | CA10360828 | RS1 | c.52+33A>C (n.52+33A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18671984T= | CA2417996989 | RS1 | c.52+33A= (n.52+33A=) | |
| X | g.18671985G>A | CA1131400920 | RS1 | c.52+32C>T (n.52+32C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18671985G= | CA2417996990 | RS1 | c.52+32C= (n.52+32C=) | |
| X | g.18671985G>T | CA2693229409 | RS1 | c.52+32C>A (n.52+32C>A) | gnomAD v4 |
| X | g.18671986C>T | CA2693229410 | RS1 | c.52+31G>A (n.52+31G>A) | gnomAD v4 |
| X | g.18671992_18671993insAGTCAATGAA | CA2819914022 | RS1 | c.52+31_52+32insACTTTCATTG (n.52+31_52+32insACTTTCATTG) | |
| X | g.18671988A>G | CA2819914023 | RS1 | c.52+29T>C (n.52+29T>C) | |
| X | g.18671989T>C | CA2693229411 | RS1 | c.52+28A>G (n.52+28A>G) | gnomAD v4 |
| X | g.18671990G>A | CA2693229412 | RS1 | c.52+27C>T (n.52+27C>T) | gnomAD v4 |
| X | g.18671990G>T | CA2579563869 | RS1 | c.52+27C>A (n.52+27C>A) | gnomAD v4 |
| X | g.18671991A>T | CA2541081169 | RS1 | c.52+26T>A (n.52+26T>A) | gnomAD v4 |
| X | g.18671992del | CA2579563870 | RS1 | c.52+26del (n.52+26del) | |
| X | g.18671992A>G | CA2693229413 | RS1 | c.52+25T>C (n.52+25T>C) | gnomAD v4 |
| X | g.18671993T>G | CA2693229414 | RS1 | c.52+24A>C (n.52+24A>C) | gnomAD v4 |
| X | g.18671994G>T | CA2693229415 | RS1 | c.52+23C>A (n.52+23C>A) | gnomAD v4 |
| X | g.18671995T>C | CA2579563871 | RS1 | c.52+22A>G (n.52+22A>G) | gnomAD v4 |
| X | g.18671997_18672001delinsAATGG | CA2417996991 | RS1 | c.52+16_52+20delinsCCATT (n.52+16_52+20delinsCCATT) | |
| X | g.18671998A= | CA2417996992 | RS1 | c.52+19T= (n.52+19T=) | |
| X | g.18671998A>G | CA1131400939 | RS1 | c.52+19T>C (n.52+19T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18671998_18672001del | CA873675531 | RS1 | c.52+16_52+19del (n.52+16_52+19del) | dbSNP |
| X | g.18671999T>C | CA10360829 | RS1 | c.52+18A>G (n.52+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18671999T= | CA2417996993 | RS1 | c.52+18A= (n.52+18A=) | |
| X | g.18672001G>A | CA640517821 | RS1 | c.52+16C>T (n.52+16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672001G= | CA2417996994 | RS1 | c.52+16C= (n.52+16C=) | |
| X | g.18672001G>T | CA2693229416 | RS1 | c.52+16C>A (n.52+16C>A) | gnomAD v4 |
| X | g.18672003T>C | CA2693229417 | RS1 | c.52+14A>G (n.52+14A>G) | gnomAD v4 |
| X | g.18672007T>C | CA640517822 | RS1 | c.52+10A>G (n.52+10A>G) | dbSNP gnomAD v2 |
| X | g.18672007T= | CA2417996995 | RS1 | c.52+10A= (n.52+10A=) | |
| X | g.18672008A>G | CA2693229418 | RS1 | c.52+9T>C (n.52+9T>C) | gnomAD v4 |
| X | g.18672009G>T | CA2579563872 | RS1 | c.52+8C>A (n.52+8C>A) | gnomAD v4 |
| X | g.18672011A= | CA2417996996 | RS1 | c.52+6T= (n.52+6T=) | |
| X | g.18672011A>G | CA640517823 | RS1 | c.52+6T>C (n.52+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18672011A>T | CA10360830 | RS1 | c.52+6T>A (n.52+6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18672011_18672012insTT | CA2573158482 | RS1 | c.52+5_52+6insAA (n.52+5_52+6insAA) | dbSNP |
| X | g.18672012C= | CA2417996997 | RS1 | c.52+5G= (n.52+5G=) | |
| X | g.18672012C>G | CA226767 | RS1 | c.52+5G>C (n.52+5G>C) | ClinVar dbSNP |
| X | g.18672012C>T | CA10360831 | RS1 | c.52+5G>A (n.52+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672013A>G | CA2693229419 | RS1 | c.52+4T>C (n.52+4T>C) | gnomAD v4 |
| X | g.18672014T>C | CA915940885 | RS1 | c.52+3A>G (n.52+3A>G) | ClinVar dbSNP |
| X | g.18672014T= | CA2417996998 | RS1 | c.52+3A= (n.52+3A=) | |
| X | g.18672015A= | CA2417996999 | RS1 | c.52+2T= (n.52+2T=) | |
| X | g.18672015A>C | CA412378905 | RS1 | c.52+2T>G (n.52+2T>G) | |
| X | g.18672015A>G | CA226766 | RS1 | c.52+2T>C (n.52+2T>C) | ClinVar dbSNP |
| X | g.18672015A>T | CA412378903 | RS1 | c.52+2T>A (n.52+2T>A) | |
| X | g.18672015dup | CA226765 | RS1 | c.52+2dup (n.52+2dup) | ClinVar dbSNP |
| X | g.18672015_18672021dup | CA2695231610 | RS1 | c.48_52+2dup | |
| X | g.18672016C>A | CA226764 | RS1 | c.52+1G>T (n.52+1G>T) | ClinVar dbSNP |
| X | g.18672016C= | CA2417997000 | RS1 | c.52+1G= (n.52+1G=) | |
| X | g.18672016C>G | CA412378910 | RS1 | c.52+1G>C (n.52+1G>C) | |
| X | g.18672016C>T | CA226763 | RS1 | c.52+1G>A (n.52+1G>A) | ClinVar dbSNP |
| X | g.18672017del | CA2695231611 | RS1 | c.52+1del | |
| X | g.18672017C>A | CA412378918 | RS1 | c.52G>T (p.Ala18Ser) | |
| X | g.18672017C>G | CA412378921 | RS1 | c.52G>C (p.Ala18Pro) | |
| X | g.18672017C>T | CA412378923 | RS1 | c.52G>A (p.Ala18Thr) | |
| X | g.18672021_18672072del | CA2695231612 | RS1 | c.1_52del (p.Met1ProfsTer?) | |
| X | g.18672018T>A | CA412378939 | RS1 | c.51A>T (p.Glu17Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18672018T>C | CA515479390 | RS1 | c.51A>G (p.Glu17=) | |
| X | g.18672018T>G | CA412378942 | RS1 | c.51A>C (p.Glu17Asp) | |
| X | g.18672018T= | CA2417997001 | RS1 | c.51A= (p.Glu17=) | |
| X | g.18672019T>A | CA412378943 | RS1 | c.50A>T (p.Glu17Val) | |
| X | g.18672019T>C | CA412378944 | RS1 | c.50A>G (p.Glu17Gly) | |
| X | g.18672019T>G | CA412378945 | RS1 | c.50A>C (p.Glu17Ala) | |
| X | g.18672020C>A | CA412378947 | RS1 | c.49G>T (p.Glu17Ter) | |
| X | g.18672020C>G | CA412378955 | RS1 | c.49G>C (p.Glu17Gln) | |
| X | g.18672020C>T | CA412378950 | RS1 | c.49G>A (p.Glu17Lys) | |
| X | g.18672021A= | CA2417997002 | RS1 | c.48T= (p.Tyr16=) | |
| X | g.18672021A>C | CA412378960 | RS1 | c.48T>G (p.Tyr16Ter) | |
| X | g.18672021A>G | CA515479403 | RS1 | c.48T>C (p.Tyr16=) | ClinVar dbSNP |
| X | g.18672021A>T | CA412378968 | RS1 | c.48T>A (p.Tyr16Ter) | |
| X | g.18672022T>A | CA412378969 | RS1 | c.47A>T (p.Tyr16Phe) | |
| X | g.18672022T>C | CA412378970 | RS1 | c.47A>G (p.Tyr16Cys) | dbSNP gnomAD v4 |
| X | g.18672022T>G | CA412378971 | RS1 | c.47A>C (p.Tyr16Ser) | |
| X | g.18672022T= | CA2417997003 | RS1 | c.47A= (p.Tyr16=) | |
| X | g.18672023A>C | CA412378975 | RS1 | c.46T>G (p.Tyr16Asp) | |
| X | g.18672023A>G | CA412378982 | RS1 | c.46T>C (p.Tyr16His) | ClinVar |
| X | g.18672023A>T | CA412378986 | RS1 | c.46T>A (p.Tyr16Asn) | |
| X | g.18672024G>A | CA515479414 | RS1 | c.45C>T (p.Gly15=) | |
| X | g.18672024G>C | CA515479416 | RS1 | c.45C>G (p.Gly15=) | |
| X | g.18672024G>T | CA515479418 | RS1 | c.45C>A (p.Gly15=) | |
| X | g.18672025C>A | CA412378992 | RS1 | c.44G>T (p.Gly15Val) | dbSNP |
| X | g.18672025C= | CA2417997004 | RS1 | c.44G= (p.Gly15=) | |
| X | g.18672025C>G | CA412378996 | RS1 | c.44G>C (p.Gly15Ala) | |
| X | g.18672025C>T | CA412379004 | RS1 | c.44G>A (p.Gly15Asp) | gnomAD v4 |
| X | g.18672026C>A | CA412379007 | RS1 | c.43G>T (p.Gly15Cys) | |
| X | g.18672026C>G | CA412379009 | RS1 | c.43G>C (p.Gly15Arg) | |
| X | g.18672026C>T | CA412379012 | RS1 | c.43G>A (p.Gly15Ser) | |
| X | g.18672027A>C | CA412379017 | RS1 | c.42T>G (p.Phe14Leu) | |
| X | g.18672027A>G | CA515479432 | RS1 | c.42T>C (p.Phe14=) | |
| X | g.18672027A>T | CA412379016 | RS1 | c.42T>A (p.Phe14Leu) | |
| X | g.18672028A= | CA2417997005 | RS1 | c.41T= (p.Phe14=) | |
| X | g.18672028A>C | CA412379018 | RS1 | c.41T>G (p.Phe14Cys) | |
| X | g.18672028A>G | CA10360832 | RS1 | c.41T>C (p.Phe14Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672028A>T | CA412379021 | RS1 | c.41T>A (p.Phe14Tyr) | |
| X | g.18672029A>C | CA412379025 | RS1 | c.40T>G (p.Phe14Val) | |
| X | g.18672029A>G | CA412379027 | RS1 | c.40T>C (p.Phe14Leu) | |
| X | g.18672029A>T | CA412379029 | RS1 | c.40T>A (p.Phe14Ile) | |
| X | g.18672030G>A | CA515479448 | RS1 | c.39C>T (p.Leu13=) | |
| X | g.18672030G>C | CA515479444 | RS1 | c.39C>G (p.Leu13=) | ClinVar dbSNP |
| X | g.18672030G>T | CA515479446 | RS1 | c.39C>A (p.Leu13=) | COSMIC |
| X | g.18672031del | CA2579563873 | RS1 | c.38del (p.Leu13ProfsTer?) | |
| X | g.18672031A= | CA2417997006 | RS1 | c.38T= (p.Leu13=) | |
| X | g.18672031A>C | CA412379033 | RS1 | c.38T>G (p.Leu13Arg) | |
| X | g.18672031A>G | CA226709 | RS1 | c.38T>C (p.Leu13Pro) | ClinVar dbSNP |
| X | g.18672031A>T | CA412379043 | RS1 | c.38T>A (p.Leu13His) | |
| X | g.18672032G>A | CA10360833 | RS1 | c.37C>T (p.Leu13Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672032G>C | CA412379051 | RS1 | c.37C>G (p.Leu13Val) | ClinVar |
| X | g.18672032G= | CA2417997008 | RS1 | c.37C= (p.Leu13=) | |
| X | g.18672032G>T | CA412379054 | RS1 | c.37C>A (p.Leu13Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18672032_18672036delinsGAAGT | CA2417997007 | RS1 | c.33_37delinsACTTC (p.Leu11=) | |
| X | g.18672033A= | CA2417997009 | RS1 | c.36T= (p.Leu12=) | |
| X | g.18672033A>C | CA515479458 | RS1 | c.36T>G (p.Leu12=) | |
| X | g.18672033A>G | CA515479460 | RS1 | c.36T>C (p.Leu12=) | |
| X | g.18672033A>T | CA515479462 | RS1 | c.36T>A (p.Leu12=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672035_18672038del | CA226699 | RS1 | c.33_36del (p.Leu11PhefsTer?) | ClinVar dbSNP |
| X | g.18672034A= | CA2417997010 | RS1 | c.35T= (p.Leu12=) | |
| X | g.18672034A>C | CA412379060 | RS1 | c.35T>G (p.Leu12Arg) | ClinVar |
| X | g.18672034A>G | CA412379067 | RS1 | c.35T>C (p.Leu12Pro) | |
| X | g.18672034A>T | CA226701 | RS1 | c.35T>A (p.Leu12His) | ClinVar dbSNP |
| X | g.18672035G>A | CA412379069 | RS1 | c.34C>T (p.Leu12Phe) | |
| X | g.18672035G>C | CA412379073 | RS1 | c.34C>G (p.Leu12Val) | |
| X | g.18672035G>T | CA412379076 | RS1 | c.34C>A (p.Leu12Ile) | |
| X | g.18672036T>A | CA412379081 | RS1 | c.33A>T (p.Leu11Phe) | |
| X | g.18672036T>C | CA515479474 | RS1 | c.33A>G (p.Leu11=) | |
| X | g.18672036T>G | CA412379085 | RS1 | c.33A>C (p.Leu11Phe) | |
| X | g.18672037A>C | CA412379089 | RS1 | c.32T>G (p.Leu11Ter) | |
| X | g.18672037A>G | CA412379097 | RS1 | c.32T>C (p.Leu11Ser) | |
| X | g.18672037A>T | CA412379100 | RS1 | c.32T>A (p.Leu11Ter) | |
| X | g.18672038A>C | CA412379102 | RS1 | c.31T>G (p.Leu11Val) | |
| X | g.18672038A>G | CA515479480 | RS1 | c.31T>C (p.Leu11=) | |
| X | g.18672038A>T | CA412379105 | RS1 | c.31T>A (p.Leu11Ile) | |
| X | g.18672039T>A | CA412379109 | RS1 | c.30A>T (p.Leu10Phe) | |
| X | g.18672039T>C | CA515479490 | RS1 | c.30A>G (p.Leu10=) | gnomAD v4 |
| X | g.18672039T>G | CA412379113 | RS1 | c.30A>C (p.Leu10Phe) | |
| X | g.18672040A= | CA2417997011 | RS1 | c.29T= (p.Leu10=) | |
| X | g.18672040A>C | CA412379119 | RS1 | c.29T>G (p.Leu10Ter) | |
| X | g.18672040A>G | CA412379115 | RS1 | c.29T>C (p.Leu10Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672040A>T | CA412379116 | RS1 | c.29T>A (p.Leu10Ter) | |
| X | g.18672041A>C | CA412379122 | RS1 | c.28T>G (p.Leu10Val) | |
| X | g.18672041A>G | CA515479499 | RS1 | c.28T>C (p.Leu10=) | |
| X | g.18672041A>T | CA412379124 | RS1 | c.28T>A (p.Leu10Ile) | |
| X | g.18672042C>A | CA412379125 | RS1 | c.27G>T (p.Leu9Phe) | gnomAD v4 |
| X | g.18672042C>G | CA412379127 | RS1 | c.27G>C (p.Leu9Phe) | |
| X | g.18672042C>T | CA515479504 | RS1 | c.27G>A (p.Leu9=) | |
| X | g.18672043A= | CA2417997012 | RS1 | c.26T= (p.Leu9=) | |
| X | g.18672043A>C | CA412379129 | RS1 | c.26T>G (p.Leu9Trp) | |
| X | g.18672043A>G | CA412379132 | RS1 | c.26T>C (p.Leu9Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18672043A>T | CA412379134 | RS1 | c.26T>A (p.Leu9Ter) | |
| X | g.18672047dup | CA2499226545 | RS1 | c.26dup (p.Leu9PhefsTer9) | ClinVar dbSNP |
| X | g.18672047del | CA2695231613 | RS1 | c.26del (p.Leu9CysfsTer?) | |
| X | g.18672044A>C | CA412379137 | RS1 | c.25T>G (p.Leu9Val) | |
| X | g.18672044A>G | CA515479509 | RS1 | c.25T>C (p.Leu9=) | |
| X | g.18672044A>T | CA412379140 | RS1 | c.25T>A (p.Leu9Met) | |
| X | g.18672045A>C | CA412379143 | RS1 | c.24T>G (p.Phe8Leu) | |
| X | g.18672045A>G | CA515479514 | RS1 | c.24T>C (p.Phe8=) | gnomAD v4 |
| X | g.18672045A>T | CA412379146 | RS1 | c.24T>A (p.Phe8Leu) | |
| X | g.18672046A>C | CA412379156 | RS1 | c.23T>G (p.Phe8Cys) | |
| X | g.18672046A>G | CA412379155 | RS1 | c.23T>C (p.Phe8Ser) | |
| X | g.18672046A>T | CA412379153 | RS1 | c.23T>A (p.Phe8Tyr) | |
| X | g.18672047A>C | CA412379158 | RS1 | c.22T>G (p.Phe8Val) | |
| X | g.18672047A>G | CA412379162 | RS1 | c.22T>C (p.Phe8Leu) | gnomAD v4 |
| X | g.18672047A>T | CA412379161 | RS1 | c.22T>A (p.Phe8Ile) | |
| X | g.18672048G>A | CA515479522 | RS1 | c.21C>T (p.Gly7=) | |
| X | g.18672048G>C | CA515479524 | RS1 | c.21C>G (p.Gly7=) | |
| X | g.18672048G>T | CA515479526 | RS1 | c.21C>A (p.Gly7=) | |
| X | g.18672049C>A | CA412379165 | RS1 | c.20G>T (p.Gly7Val) | |
| X | g.18672049C= | CA2417997013 | RS1 | c.20G= (p.Gly7=) | |
| X | g.18672049C>G | CA412379168 | RS1 | c.20G>C (p.Gly7Ala) | |
| X | g.18672049C>T | CA412379166 | RS1 | c.20G>A (p.Gly7Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18672050del | CA2695231614 | RS1 | c.20del (p.Gly7AlafsTer?) | |
| X | g.18672050C>A | CA412379170 | RS1 | c.19G>T (p.Gly7Cys) | |
| X | g.18672050C= | CA2417997014 | RS1 | c.19G= (p.Gly7=) | |
| X | g.18672050C>G | CA412379175 | RS1 | c.19G>C (p.Gly7Arg) | |
| X | g.18672050C>T | CA10360834 | RS1 | c.19G>A (p.Gly7Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18672051T>A | CA412379177 | RS1 | c.18A>T (p.Glu6Asp) | |
| X | g.18672051T>C | CA515479536 | RS1 | c.18A>G (p.Glu6=) | gnomAD v4 |
| X | g.18672051T>G | CA412379180 | RS1 | c.18A>C (p.Glu6Asp) | |
| X | g.18672052T>A | CA412379184 | RS1 | c.17A>T (p.Glu6Val) | |
| X | g.18672052T>C | CA412379187 | RS1 | c.17A>G (p.Glu6Gly) | |
| X | g.18672052T>G | CA412379189 | RS1 | c.17A>C (p.Glu6Ala) | |
| X | g.18672053C>A | CA412379192 | RS1 | c.16G>T (p.Glu6Ter) | |
| X | g.18672053C>G | CA412379196 | RS1 | c.16G>C (p.Glu6Gln) | |
| X | g.18672053C>T | CA412379200 | RS1 | c.16G>A (p.Glu6Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.18672054T>A | CA515479546 | RS1 | c.15A>T (p.Ile5=) | |
| X | g.18672054T>C | CA412379205 | RS1 | c.15A>G (p.Ile5Met) | |
| X | g.18672054T>G | CA515479549 | RS1 | c.15A>C (p.Ile5=) | |
| X | g.18672055del | CA2739290431 | RS1 | c.14del (p.Ile5LysfsTer?) | |
| X | g.18672055A= | CA2417997015 | RS1 | c.14T= (p.Ile5=) | |
| X | g.18672055A>C | CA412379209 | RS1 | c.14T>G (p.Ile5Arg) | dbSNP |
| X | g.18672055A>G | CA327014934 | RS1 | c.14T>C (p.Ile5Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18672055A>T | CA412379215 | RS1 | c.14T>A (p.Ile5Lys) | |
| X | g.18672056T>A | CA412379219 | RS1 | c.13A>T (p.Ile5Leu) | |
| X | g.18672056T>C | CA412379223 | RS1 | c.13A>G (p.Ile5Val) | |
| X | g.18672056T>G | CA412379230 | RS1 | c.13A>C (p.Ile5Leu) | |
| X | g.18672057_18672059del | CA2573158483 | RS1 | c.11_13del (p.Lys4del) | ClinVar dbSNP |
| X | g.18672057C>A | CA412379235 | RS1 | c.12G>T (p.Lys4Asn) | |
| X | g.18672057C>G | CA412379239 | RS1 | c.12G>C (p.Lys4Asn) | |
| X | g.18672057C>T | CA515479557 | RS1 | c.12G>A (p.Lys4=) | |
| X | g.18672058T>A | CA412379243 | RS1 | c.11A>T (p.Lys4Met) | |
| X | g.18672058T>C | CA412379244 | RS1 | c.11A>G (p.Lys4Arg) | ClinVar |
| X | g.18672058T>G | CA412379245 | RS1 | c.11A>C (p.Lys4Thr) | |
| X | g.18672059T>A | CA412379246 | RS1 | c.10A>T (p.Lys4Ter) | |
| X | g.18672059T>C | CA10360835 | RS1 | c.10A>G (p.Lys4Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672059T>G | CA412379249 | RS1 | c.10A>C (p.Lys4Gln) | |
| X | g.18672059T= | CA2417997016 | RS1 | c.10A= (p.Lys4=) | |
| X | g.18672060G>A | CA515479567 | RS1 | c.9C>T (p.Arg3=) | |
| X | g.18672060G>C | CA515479568 | RS1 | c.9C>G (p.Arg3=) | |
| X | g.18672060G>T | CA515479570 | RS1 | c.9C>A (p.Arg3=) | gnomAD v4 |
| X | g.18672061C>A | CA412379250 | RS1 | c.8G>T (p.Arg3Leu) | |
| X | g.18672061C= | CA2417997017 | RS1 | c.8G= (p.Arg3=) | |
| X | g.18672061C>G | CA412379260 | RS1 | c.8G>C (p.Arg3Pro) | |
| X | g.18672061C>T | CA10360836 | RS1 | c.8G>A (p.Arg3His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.18672062G>A | CA10360838 | RS1 | c.7C>T (p.Arg3Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.18672062G>C | CA10360837 | RS1 | c.7C>G (p.Arg3Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672062G= | CA2417997018 | RS1 | c.7C= (p.Arg3=) | |
| X | g.18672062G>T | CA412379279 | RS1 | c.7C>A (p.Arg3Ser) | |
| X | g.18672063T>A | CA10360839 | RS1 | c.6A>T (p.Ser2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18672063T>C | CA515479576 | RS1 | c.6A>G (p.Ser2=) | |
| X | g.18672063T>G | CA515479575 | RS1 | c.6A>C (p.Ser2=) | |
| X | g.18672063T= | CA2417997019 | RS1 | c.6A= (p.Ser2=) | |
| X | g.18672064G>A | CA412379295 | RS1 | c.5C>T (p.Ser2Leu) | gnomAD v4 |
| X | g.18672064G>C | CA412379288 | RS1 | c.5C>G (p.Ser2Ter) | |
| X | g.18672064G>T | CA412379292 | RS1 | c.5C>A (p.Ser2Ter) |