Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.42711326_42711383delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT | CA1542304938 | GHR | c.738_784+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.672_718+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.*350_*396+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.759_805+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.693_739+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT | |
5 | g.42711327_42711383del | CA559293443 | GHR | c.739_784+11del c.673_718+11del c.*351_*396+11del c.760_805+11del c.694_739+11del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711342C>A | CA359696070 | GHR | c.754C>A (p.Pro252Thr) c.688C>A (p.Pro230Thr) c.*366C>A (n.*366C>A) c.775C>A (p.Pro259Thr) c.709C>A (p.Pro237Thr) | |
5 | g.42711342C>G | CA359696071 | GHR | c.754C>G (p.Pro252Ala) c.688C>G (p.Pro230Ala) c.*366C>G (n.*366C>G) c.775C>G (p.Pro259Ala) c.709C>G (p.Pro237Ala) | |
5 | g.42711342C>T | CA359696072 | GHR | c.754C>T (p.Pro252Ser) c.688C>T (p.Pro230Ser) c.*366C>T (n.*366C>T) c.775C>T (p.Pro259Ser) c.709C>T (p.Pro237Ser) | gnomAD v4 |
5 | g.42711343C>A | CA359696073 | GHR | c.755C>A (p.Pro252His) c.689C>A (p.Pro230His) c.*367C>A (n.*367C>A) c.776C>A (p.Pro259His) c.710C>A (p.Pro237His) | |
5 | g.42711343C= | CA1542304969 | GHR | c.755C= (p.Pro252=) c.689C= (p.Pro230=) c.*367C= (n.*367C=) c.776C= (p.Pro259=) c.710C= (p.Pro237=) | |
5 | g.42711343C>G | CA359696074 | GHR | c.755C>G (p.Pro252Arg) c.689C>G (p.Pro230Arg) c.*367C>G (n.*367C>G) c.776C>G (p.Pro259Arg) c.710C>G (p.Pro237Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711343C>T | CA359696075 | GHR | c.755C>T (p.Pro252Leu) c.689C>T (p.Pro230Leu) c.*367C>T (n.*367C>T) c.776C>T (p.Pro259Leu) c.710C>T (p.Pro237Leu) | |
5 | g.42711344T>A | CA443848049 | GHR | c.756T>A (p.Pro252=) c.690T>A (p.Pro230=) c.*368T>A (n.*368T>A) c.777T>A (p.Pro259=) c.711T>A (p.Pro237=) | |
5 | g.42711344T>C | CA443848051 | GHR | c.756T>C (p.Pro252=) c.690T>C (p.Pro230=) c.*368T>C (n.*368T>C) c.777T>C (p.Pro259=) c.711T>C (p.Pro237=) | |
5 | g.42711344T>G | CA443848053 | GHR | c.756T>G (p.Pro252=) c.690T>G (p.Pro230=) c.*368T>G (n.*368T>G) c.777T>G (p.Pro259=) c.711T>G (p.Pro237=) | |
5 | g.42711345del | CA2573139698 | GHR | c.757del (p.Gln253ArgfsTer2) c.691del (p.Gln231ArgfsTer2) c.*369del (n.*369del) c.778del (p.Gln260ArgfsTer2) c.712del (p.Gln238ArgfsTer2) | ClinVar dbSNP |
5 | g.42711345C>A | CA359696076 | GHR | c.757C>A (p.Gln253Lys) c.691C>A (p.Gln231Lys) c.*369C>A (n.*369C>A) c.778C>A (p.Gln260Lys) c.712C>A (p.Gln238Lys) | ClinVar |
5 | g.42711345C= | CA1542304973 | GHR | c.757C= (p.Gln253=) c.691C= (p.Gln231=) c.*369C= (n.*369C=) c.778C= (p.Gln260=) c.712C= (p.Gln238=) | |
5 | g.42711345C>G | CA359696077 | GHR | c.757C>G (p.Gln253Glu) c.691C>G (p.Gln231Glu) c.*369C>G (n.*369C>G) c.778C>G (p.Gln260Glu) c.712C>G (p.Gln238Glu) | |
5 | g.42711345C>T | CA359696078 | GHR | c.757C>T (p.Gln253Ter) c.691C>T (p.Gln231Ter) c.*369C>T (n.*369C>T) c.778C>T (p.Gln260Ter) c.712C>T (p.Gln238Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.42711346A>C | CA359696081 | GHR | c.758A>C (p.Gln253Pro) c.692A>C (p.Gln231Pro) c.*370A>C (n.*370A>C) c.779A>C (p.Gln260Pro) c.713A>C (p.Gln238Pro) | |
5 | g.42711346A>G | CA359696080 | GHR | c.758A>G (p.Gln253Arg) c.692A>G (p.Gln231Arg) c.*370A>G (n.*370A>G) c.779A>G (p.Gln260Arg) c.713A>G (p.Gln238Arg) | |
5 | g.42711346A>T | CA359696079 | GHR | c.758A>T (p.Gln253Leu) c.692A>T (p.Gln231Leu) c.*370A>T (n.*370A>T) c.779A>T (p.Gln260Leu) c.713A>T (p.Gln238Leu) | |
5 | g.42711347G>A | CA443848062 | GHR | c.759G>A (p.Gln253=) c.693G>A (p.Gln231=) c.*371G>A (n.*371G>A) c.780G>A (p.Gln260=) c.714G>A (p.Gln238=) | |
5 | g.42711347G>C | CA359696082 | GHR | c.759G>C (p.Gln253His) c.693G>C (p.Gln231His) c.*371G>C (n.*371G>C) c.780G>C (p.Gln260His) c.714G>C (p.Gln238His) | |
5 | g.42711347G>T | CA359696083 | GHR | c.759G>T (p.Gln253His) c.693G>T (p.Gln231His) c.*371G>T (n.*371G>T) c.780G>T (p.Gln260His) c.714G>T (p.Gln238His) | |
5 | g.42711347_42711348delinsGA | CA1542304978 | GHR | c.759_760delinsGA (p.Gln253=) c.693_694delinsGA (p.Gln231=) c.*371_*372delinsGA (n.*371_*372delinsGA) c.780_781delinsGA (p.Gln260=) c.714_715delinsGA (p.Gln238=) | |
5 | g.42711348del | CA559293444 | GHR | c.760del (p.Met254Ter) c.694del (p.Met232Ter) c.*372del (n.*372del) c.781del (p.Met261Ter) c.715del (p.Met239Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711348A>C | CA359696084 | GHR | c.760A>C (p.Met254Leu) c.694A>C (p.Met232Leu) c.*372A>C (n.*372A>C) c.781A>C (p.Met261Leu) c.715A>C (p.Met239Leu) | |
5 | g.42711348A>G | CA359696085 | GHR | c.760A>G (p.Met254Val) c.694A>G (p.Met232Val) c.*372A>G (n.*372A>G) c.781A>G (p.Met261Val) c.715A>G (p.Met239Val) | gnomAD v4 |
5 | g.42711348A>T | CA359696086 | GHR | c.760A>T (p.Met254Leu) c.694A>T (p.Met232Leu) c.*372A>T (n.*372A>T) c.781A>T (p.Met261Leu) c.715A>T (p.Met239Leu) | |
5 | g.42711349T>A | CA359696089 | GHR | c.761T>A (p.Met254Lys) c.695T>A (p.Met232Lys) c.*373T>A (n.*373T>A) c.782T>A (p.Met261Lys) c.716T>A (p.Met239Lys) | |
5 | g.42711349T>C | CA359696088 | GHR | c.761T>C (p.Met254Thr) c.695T>C (p.Met232Thr) c.*373T>C (n.*373T>C) c.782T>C (p.Met261Thr) c.716T>C (p.Met239Thr) | |
5 | g.42711349T>G | CA359696087 | GHR | c.761T>G (p.Met254Arg) c.695T>G (p.Met232Arg) c.*373T>G (n.*373T>G) c.782T>G (p.Met261Arg) c.716T>G (p.Met239Arg) | gnomAD v4 |
5 | g.42711350G>A | CA359696090 | GHR | c.762G>A (p.Met254Ile) c.696G>A (p.Met232Ile) c.*374G>A (n.*374G>A) c.783G>A (p.Met261Ile) c.717G>A (p.Met239Ile) | gnomAD v4 |
5 | g.42711350G>C | CA359696091 | GHR | c.762G>C (p.Met254Ile) c.696G>C (p.Met232Ile) c.*374G>C (n.*374G>C) c.783G>C (p.Met261Ile) c.717G>C (p.Met239Ile) | gnomAD v4 |
5 | g.42711350G>T | CA359696092 | GHR | c.762G>T (p.Met254Ile) c.696G>T (p.Met232Ile) c.*374G>T (n.*374G>T) c.783G>T (p.Met261Ile) c.717G>T (p.Met239Ile) | |
5 | g.42711350_42711351delinsGA | CA1542304982 | GHR | c.762_763delinsGA (p.Met254=) c.696_697delinsGA (p.Met232=) c.*374_*375delinsGA (n.*374_*375delinsGA) c.783_784delinsGA (p.Met261=) c.717_718delinsGA (p.Met239=) | |
5 | g.42711351del | CA1542304985 | GHR | c.763del (p.Ser255AlafsTer15) c.697del (p.Ser233AlafsTer15) c.*375del (n.*375del) c.784del (p.Ser262AlafsTer15) c.718del (p.Ser240AlafsTer15) | dbSNP |
5 | g.42711351A= | CA1542304986 | GHR | c.763A= (p.Ser255=) c.697A= (p.Ser233=) c.*375A= (n.*375A=) c.784A= (p.Ser262=) c.718A= (p.Ser240=) | |
5 | g.42711351A>C | CA359696093 | GHR | c.763A>C (p.Ser255Arg) c.697A>C (p.Ser233Arg) c.*375A>C (n.*375A>C) c.784A>C (p.Ser262Arg) c.718A>C (p.Ser240Arg) | |
5 | g.42711351A>G | CA359696094 | GHR | c.763A>G (p.Ser255Gly) c.697A>G (p.Ser233Gly) c.*375A>G (n.*375A>G) c.784A>G (p.Ser262Gly) c.718A>G (p.Ser240Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711351A>T | CA359696095 | GHR | c.763A>T (p.Ser255Cys) c.697A>T (p.Ser233Cys) c.*375A>T (n.*375A>T) c.784A>T (p.Ser262Cys) c.718A>T (p.Ser240Cys) | |
5 | g.42711352G>A | CA359696096 | GHR | c.764G>A (p.Ser255Asn) c.698G>A (p.Ser233Asn) c.*376G>A (n.*376G>A) c.785G>A (p.Ser262Asn) c.719G>A (p.Ser240Asn) | dbSNP |
5 | g.42711352G>C | CA359696097 | GHR | c.764G>C (p.Ser255Thr) c.698G>C (p.Ser233Thr) c.*376G>C (n.*376G>C) c.785G>C (p.Ser262Thr) c.719G>C (p.Ser240Thr) | |
5 | g.42711352G= | CA1542304989 | GHR | c.764G= (p.Ser255=) c.698G= (p.Ser233=) c.*376G= (n.*376G=) c.785G= (p.Ser262=) c.719G= (p.Ser240=) | |
5 | g.42711352G>T | CA118049497 | GHR | c.764G>T (p.Ser255Ile) c.698G>T (p.Ser233Ile) c.*376G>T (n.*376G>T) c.785G>T (p.Ser262Ile) c.719G>T (p.Ser240Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711353C>A | CA359696098 | GHR | c.765C>A (p.Ser255Arg) c.699C>A (p.Ser233Arg) c.*377C>A (n.*377C>A) c.786C>A (p.Ser262Arg) c.720C>A (p.Ser240Arg) | |
5 | g.42711353C>G | CA359696099 | GHR | c.765C>G (p.Ser255Arg) c.699C>G (p.Ser233Arg) c.*377C>G (n.*377C>G) c.786C>G (p.Ser262Arg) c.720C>G (p.Ser240Arg) | |
5 | g.42711353C>T | CA443848083 | GHR | c.765C>T (p.Ser255=) c.699C>T (p.Ser233=) c.*377C>T (n.*377C>T) c.786C>T (p.Ser262=) c.720C>T (p.Ser240=) | |
5 | g.42711354C>A | CA359696100 | GHR | c.766C>A (p.Gln256Lys) c.700C>A (p.Gln234Lys) c.*378C>A (n.*378C>A) c.787C>A (p.Gln263Lys) c.721C>A (p.Gln241Lys) | gnomAD v4 |
5 | g.42711354C= | CA1542304991 | GHR | c.766C= (p.Gln256=) c.700C= (p.Gln234=) c.*378C= (n.*378C=) c.787C= (p.Gln263=) c.721C= (p.Gln241=) | |
5 | g.42711354C>G | CA359696101 | GHR | c.766C>G (p.Gln256Glu) c.700C>G (p.Gln234Glu) c.*378C>G (n.*378C>G) c.787C>G (p.Gln263Glu) c.721C>G (p.Gln241Glu) | |
5 | g.42711354C>T | CA359696102 | GHR | c.766C>T (p.Gln256Ter) c.700C>T (p.Gln234Ter) c.*378C>T (n.*378C>T) c.787C>T (p.Gln263Ter) c.721C>T (p.Gln241Ter) | dbSNP |
5 | g.42711355A>C | CA359696103 | GHR | c.767A>C (p.Gln256Pro) c.701A>C (p.Gln234Pro) c.*379A>C (n.*379A>C) c.788A>C (p.Gln263Pro) c.722A>C (p.Gln241Pro) | |
5 | g.42711355A>G | CA359696104 | GHR | c.767A>G (p.Gln256Arg) c.701A>G (p.Gln234Arg) c.*379A>G (n.*379A>G) c.788A>G (p.Gln263Arg) c.722A>G (p.Gln241Arg) | |
5 | g.42711355A>T | CA359696105 | GHR | c.767A>T (p.Gln256Leu) c.701A>T (p.Gln234Leu) c.*379A>T (n.*379A>T) c.788A>T (p.Gln263Leu) c.722A>T (p.Gln241Leu) | |
5 | g.42711356A= | CA1542304994 | GHR | c.768A= (p.Gln256=) c.702A= (p.Gln234=) c.*380A= (n.*380A=) c.789A= (p.Gln263=) c.723A= (p.Gln241=) | |
5 | g.42711356A>C | CA359696106 | GHR | c.768A>C (p.Gln256His) c.702A>C (p.Gln234His) c.*380A>C (n.*380A>C) c.789A>C (p.Gln263His) c.723A>C (p.Gln241His) | |
5 | g.42711356A>G | CA3254485 | GHR | c.768A>G (p.Gln256=) c.702A>G (p.Gln234=) c.*380A>G (n.*380A>G) c.789A>G (p.Gln263=) c.723A>G (p.Gln241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711356A>T | CA359696107 | GHR | c.768A>T (p.Gln256His) c.702A>T (p.Gln234His) c.*380A>T (n.*380A>T) c.789A>T (p.Gln263His) c.723A>T (p.Gln241His) | |
5 | g.42711357T>A | CA359696110 | GHR | c.769T>A (p.Phe257Ile) c.703T>A (p.Phe235Ile) c.*381T>A (n.*381T>A) c.790T>A (p.Phe264Ile) c.724T>A (p.Phe242Ile) | |
5 | g.42711357T>C | CA359696109 | GHR | c.769T>C (p.Phe257Leu) c.703T>C (p.Phe235Leu) c.*381T>C (n.*381T>C) c.790T>C (p.Phe264Leu) c.724T>C (p.Phe242Leu) | |
5 | g.42711357T>G | CA359696108 | GHR | c.769T>G (p.Phe257Val) c.703T>G (p.Phe235Val) c.*381T>G (n.*381T>G) c.790T>G (p.Phe264Val) c.724T>G (p.Phe242Val) | |
5 | g.42711358T>A | CA359696111 | GHR | c.770T>A (p.Phe257Tyr) c.704T>A (p.Phe235Tyr) c.*382T>A (n.*382T>A) c.791T>A (p.Phe264Tyr) c.725T>A (p.Phe242Tyr) | gnomAD v4 |
5 | g.42711358T>C | CA359696112 | GHR | c.770T>C (p.Phe257Ser) c.704T>C (p.Phe235Ser) c.*382T>C (n.*382T>C) c.791T>C (p.Phe264Ser) c.725T>C (p.Phe242Ser) | |
5 | g.42711358T>G | CA359696113 | GHR | c.770T>G (p.Phe257Cys) c.704T>G (p.Phe235Cys) c.*382T>G (n.*382T>G) c.791T>G (p.Phe264Cys) c.725T>G (p.Phe242Cys) | COSMIC |
5 | g.42711359T>A | CA359696114 | GHR | c.771T>A (p.Phe257Leu) c.705T>A (p.Phe235Leu) c.*383T>A (n.*383T>A) c.792T>A (p.Phe264Leu) c.726T>A (p.Phe242Leu) | |
5 | g.42711359T>C | CA443848100 | GHR | c.771T>C (p.Phe257=) c.705T>C (p.Phe235=) c.*383T>C (n.*383T>C) c.792T>C (p.Phe264=) c.726T>C (p.Phe242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711359T>G | CA359696115 | GHR | c.771T>G (p.Phe257Leu) c.705T>G (p.Phe235Leu) c.*383T>G (n.*383T>G) c.792T>G (p.Phe264Leu) c.726T>G (p.Phe242Leu) | |
5 | g.42711359T= | CA1542304997 | GHR | c.771T= (p.Phe257=) c.705T= (p.Phe235=) c.*383T= (n.*383T=) c.792T= (p.Phe264=) c.726T= (p.Phe242=) | |
5 | g.42711360A>C | CA359696118 | GHR | c.772A>C (p.Thr258Pro) c.706A>C (p.Thr236Pro) c.*384A>C (n.*384A>C) c.793A>C (p.Thr265Pro) c.727A>C (p.Thr243Pro) | |
5 | g.42711360A>G | CA359696117 | GHR | c.772A>G (p.Thr258Ala) c.706A>G (p.Thr236Ala) c.*384A>G (n.*384A>G) c.793A>G (p.Thr265Ala) c.727A>G (p.Thr243Ala) | |
5 | g.42711360A>T | CA359696116 | GHR | c.772A>T (p.Thr258Ser) c.706A>T (p.Thr236Ser) c.*384A>T (n.*384A>T) c.793A>T (p.Thr265Ser) c.727A>T (p.Thr243Ser) | |
5 | g.42711361C>A | CA359696119 | GHR | c.773C>A (p.Thr258Lys) c.707C>A (p.Thr236Lys) c.*385C>A (n.*385C>A) c.794C>A (p.Thr265Lys) c.728C>A (p.Thr243Lys) | gnomAD v4 COSMIC |
5 | g.42711361C>G | CA359696120 | GHR | c.773C>G (p.Thr258Arg) c.707C>G (p.Thr236Arg) c.*385C>G (n.*385C>G) c.794C>G (p.Thr265Arg) c.728C>G (p.Thr243Arg) | |
5 | g.42711361C>T | CA359696121 | GHR | c.773C>T (p.Thr258Ile) c.707C>T (p.Thr236Ile) c.*385C>T (n.*385C>T) c.794C>T (p.Thr265Ile) c.728C>T (p.Thr243Ile) | gnomAD v4 |
5 | g.42711362A>C | CA443848109 | GHR | c.774A>C (p.Thr258=) c.708A>C (p.Thr236=) c.*386A>C (n.*386A>C) c.795A>C (p.Thr265=) c.729A>C (p.Thr243=) | |
5 | g.42711362A>G | CA443848112 | GHR | c.774A>G (p.Thr258=) c.708A>G (p.Thr236=) c.*386A>G (n.*386A>G) c.795A>G (p.Thr265=) c.729A>G (p.Thr243=) | gnomAD v4 |
5 | g.42711362A>T | CA443848111 | GHR | c.774A>T (p.Thr258=) c.708A>T (p.Thr236=) c.*386A>T (n.*386A>T) c.795A>T (p.Thr265=) c.729A>T (p.Thr243=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711363T>A | CA359696122 | GHR | c.775T>A (p.Cys259Ser) c.709T>A (p.Cys237Ser) c.*387T>A (n.*387T>A) c.796T>A (p.Cys266Ser) c.730T>A (p.Cys244Ser) | gnomAD v4 |
5 | g.42711363T>C | CA359696123 | GHR | c.775T>C (p.Cys259Arg) c.709T>C (p.Cys237Arg) c.*387T>C (n.*387T>C) c.796T>C (p.Cys266Arg) c.730T>C (p.Cys244Arg) | |
5 | g.42711363T>G | CA359696124 | GHR | c.775T>G (p.Cys259Gly) c.709T>G (p.Cys237Gly) c.*387T>G (n.*387T>G) c.796T>G (p.Cys266Gly) c.730T>G (p.Cys244Gly) | |
5 | g.42711364G>A | CA359696127 | GHR | c.776G>A (p.Cys259Tyr) c.710G>A (p.Cys237Tyr) c.*388G>A (n.*388G>A) c.797G>A (p.Cys266Tyr) c.731G>A (p.Cys244Tyr) | dbSNP gnomAD v4 |
5 | g.42711364G>C | CA359696125 | GHR | c.776G>C (p.Cys259Ser) c.710G>C (p.Cys237Ser) c.*388G>C (n.*388G>C) c.797G>C (p.Cys266Ser) c.731G>C (p.Cys244Ser) | |
5 | g.42711364G= | CA1542305001 | GHR | c.776G= (p.Cys259=) c.710G= (p.Cys237=) c.*388G= (n.*388G=) c.797G= (p.Cys266=) c.731G= (p.Cys244=) | |
5 | g.42711364G>T | CA359696126 | GHR | c.776G>T (p.Cys259Phe) c.710G>T (p.Cys237Phe) c.*388G>T (n.*388G>T) c.797G>T (p.Cys266Phe) c.731G>T (p.Cys244Phe) | gnomAD v4 |
5 | g.42711365T>A | CA359696128 | GHR | c.777T>A (p.Cys259Ter) c.711T>A (p.Cys237Ter) c.*389T>A (n.*389T>A) c.798T>A (p.Cys266Ter) c.732T>A (p.Cys244Ter) | |
5 | g.42711365T>C | CA443848122 | GHR | c.777T>C (p.Cys259=) c.711T>C (p.Cys237=) c.*389T>C (n.*389T>C) c.798T>C (p.Cys266=) c.732T>C (p.Cys244=) | |
5 | g.42711365T>G | CA359696129 | GHR | c.777T>G (p.Cys259Trp) c.711T>G (p.Cys237Trp) c.*389T>G (n.*389T>G) c.798T>G (p.Cys266Trp) c.732T>G (p.Cys244Trp) | COSMIC |
5 | g.42711366G>A | CA359696130 | GHR | c.778G>A (p.Glu260Lys) c.712G>A (p.Glu238Lys) c.*390G>A (n.*390G>A) c.799G>A (p.Glu267Lys) c.733G>A (p.Glu245Lys) | COSMIC |
5 | g.42711366G>C | CA359696131 | GHR | c.778G>C (p.Glu260Gln) c.712G>C (p.Glu238Gln) c.*390G>C (n.*390G>C) c.799G>C (p.Glu267Gln) c.733G>C (p.Glu245Gln) | |
5 | g.42711366G>T | CA359696132 | GHR | c.778G>T (p.Glu260Ter) c.712G>T (p.Glu238Ter) c.*390G>T (n.*390G>T) c.799G>T (p.Glu267Ter) c.733G>T (p.Glu245Ter) | COSMIC |
5 | g.42711370_42711372del | CA2673724022 | GHR | c.782_784del (p.Glu261del) c.716_718del (p.Glu239del) c.*394_*396del (n.*394_*396del) c.803_805del (p.Glu268del) c.737_739del (p.Glu246del) | gnomAD v4 |
5 | g.42711367A>C | CA359696133 | GHR | c.779A>C (p.Glu260Ala) c.713A>C (p.Glu238Ala) c.*391A>C (n.*391A>C) c.800A>C (p.Glu267Ala) c.734A>C (p.Glu245Ala) | |
5 | g.42711367A>G | CA359696134 | GHR | c.779A>G (p.Glu260Gly) c.713A>G (p.Glu238Gly) c.*391A>G (n.*391A>G) c.800A>G (p.Glu267Gly) c.734A>G (p.Glu245Gly) | |
5 | g.42711367A>T | CA359696135 | GHR | c.779A>T (p.Glu260Val) c.713A>T (p.Glu238Val) c.*391A>T (n.*391A>T) c.800A>T (p.Glu267Val) c.734A>T (p.Glu245Val) | |
5 | g.42711372_42711381del | CA2673724023 | GHR | c.784_784+9del c.718_718+9del c.*396_*396+9del c.805_805+9del c.739_739+9del | gnomAD v4 |
5 | g.42711368A= | CA1542305004 | GHR | c.780A= (p.Glu260=) c.714A= (p.Glu238=) c.*392A= (n.*392A=) c.801A= (p.Glu267=) c.735A= (p.Glu245=) | |
5 | g.42711368A>C | CA359696136 | GHR | c.780A>C (p.Glu260Asp) c.714A>C (p.Glu238Asp) c.*392A>C (n.*392A>C) c.801A>C (p.Glu267Asp) c.735A>C (p.Glu245Asp) | ClinVar dbSNP gnomAD v4 |
5 | g.42711368A>G | CA443848139 | GHR | c.780A>G (p.Glu260=) c.714A>G (p.Glu238=) c.*392A>G (n.*392A>G) c.801A>G (p.Glu267=) c.735A>G (p.Glu245=) | |
5 | g.42711368A>T | CA359696137 | GHR | c.780A>T (p.Glu260Asp) c.714A>T (p.Glu238Asp) c.*392A>T (n.*392A>T) c.801A>T (p.Glu267Asp) c.735A>T (p.Glu245Asp) | |
5 | g.42711369G>A | CA359696138 | GHR | c.781G>A (p.Glu261Lys) c.715G>A (p.Glu239Lys) c.*393G>A (n.*393G>A) c.802G>A (p.Glu268Lys) c.736G>A (p.Glu246Lys) | ClinVar dbSNP |
5 | g.42711369G>C | CA359696139 | GHR | c.781G>C (p.Glu261Gln) c.715G>C (p.Glu239Gln) c.*393G>C (n.*393G>C) c.802G>C (p.Glu268Gln) c.736G>C (p.Glu246Gln) | |
5 | g.42711369G= | CA1542305008 | GHR | c.781G= (p.Glu261=) c.715G= (p.Glu239=) c.*393G= (n.*393G=) c.802G= (p.Glu268=) c.736G= (p.Glu246=) | |
5 | g.42711369G>T | CA359696140 | GHR | c.781G>T (p.Glu261Ter) c.715G>T (p.Glu239Ter) c.*393G>T (n.*393G>T) c.802G>T (p.Glu268Ter) c.736G>T (p.Glu246Ter) | |
5 | g.42711370A>C | CA359696141 | GHR | c.782A>C (p.Glu261Ala) c.716A>C (p.Glu239Ala) c.*394A>C (n.*394A>C) c.803A>C (p.Glu268Ala) c.737A>C (p.Glu246Ala) | |
5 | g.42711370A>G | CA359696143 | GHR | c.782A>G (p.Glu261Gly) c.716A>G (p.Glu239Gly) c.*394A>G (n.*394A>G) c.803A>G (p.Glu268Gly) c.737A>G (p.Glu246Gly) | |
5 | g.42711370A>T | CA359696142 | GHR | c.782A>T (p.Glu261Val) c.716A>T (p.Glu239Val) c.*394A>T (n.*394A>T) c.803A>T (p.Glu268Val) c.737A>T (p.Glu246Val) | |
5 | g.42711371A>C | CA359696144 | GHR | c.783A>C (p.Glu261Asp) c.717A>C (p.Glu239Asp) c.*395A>C (n.*395A>C) c.804A>C (p.Glu268Asp) c.738A>C (p.Glu246Asp) | |
5 | g.42711371A>G | CA443848151 | GHR | c.783A>G (p.Glu261=) c.717A>G (p.Glu239=) c.*395A>G (n.*395A>G) c.804A>G (p.Glu268=) c.738A>G (p.Glu246=) | |
5 | g.42711371A>T | CA359696145 | GHR | c.783A>T (p.Glu261Asp) c.717A>T (p.Glu239Asp) c.*395A>T (n.*395A>T) c.804A>T (p.Glu268Asp) c.738A>T (p.Glu246Asp) | |
5 | g.42711372G>A | CA359696146 | GHR | c.784G>A (p.Asp262Asn) c.718G>A (p.Asp240Asn) c.*396G>A (n.*396G>A) c.805G>A (p.Asp269Asn) c.739G>A (p.Asp247Asn) | gnomAD v4 |
5 | g.42711372G>C | CA359696147 | GHR | c.784G>C (p.Asp262His) c.718G>C (p.Asp240His) c.*396G>C (n.*396G>C) c.805G>C (p.Asp269His) c.739G>C (p.Asp247His) | |
5 | g.42711372G>T | CA359696148 | GHR | c.784G>T (p.Asp262Tyr) c.718G>T (p.Asp240Tyr) c.*396G>T (n.*396G>T) c.805G>T (p.Asp269Tyr) c.739G>T (p.Asp247Tyr) | |
5 | g.42711373G>A | CA359696149 | GHR | c.784+1G>A (n.784+1G>A) c.718+1G>A (n.718+1G>A) c.*396+1G>A (n.*396+1G>A) c.805+1G>A (n.805+1G>A) c.739+1G>A (n.739+1G>A) | gnomAD v4 COSMIC |
5 | g.42711373G>C | CA359696150 | GHR | c.784+1G>C (n.784+1G>C) c.718+1G>C (n.718+1G>C) c.*396+1G>C (n.*396+1G>C) c.805+1G>C (n.805+1G>C) c.739+1G>C (n.739+1G>C) | |
5 | g.42711373G>T | CA359696151 | GHR | c.784+1G>T (n.784+1G>T) c.718+1G>T (n.718+1G>T) c.*396+1G>T (n.*396+1G>T) c.805+1G>T (n.805+1G>T) c.739+1G>T (n.739+1G>T) | |
5 | g.42711374T>A | CA359696152 | GHR | c.784+2T>A (n.784+2T>A) c.718+2T>A (n.718+2T>A) c.*396+2T>A (n.*396+2T>A) c.805+2T>A (n.805+2T>A) c.739+2T>A (n.739+2T>A) | |
5 | g.42711374T>C | CA359696153 | GHR | c.784+2T>C (n.784+2T>C) c.718+2T>C (n.718+2T>C) c.*396+2T>C (n.*396+2T>C) c.805+2T>C (n.805+2T>C) c.739+2T>C (n.739+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711374T>G | CA359696154 | GHR | c.784+2T>G (n.784+2T>G) c.718+2T>G (n.718+2T>G) c.*396+2T>G (n.*396+2T>G) c.805+2T>G (n.805+2T>G) c.739+2T>G (n.739+2T>G) | |
5 | g.42711374T= | CA1542305014 | GHR | c.784+2T= (n.784+2T=) c.718+2T= (n.718+2T=) c.*396+2T= (n.*396+2T=) c.805+2T= (n.805+2T=) c.739+2T= (n.739+2T=) | |
5 | g.42711375A= | CA1542305018 | GHR | c.784+3A= (n.784+3A=) c.718+3A= (n.718+3A=) c.*396+3A= (n.*396+3A=) c.805+3A= (n.805+3A=) c.739+3A= (n.739+3A=) | |
5 | g.42711375A>G | CA3254486 | GHR | c.784+3A>G (n.784+3A>G) c.718+3A>G (n.718+3A>G) c.*396+3A>G (n.*396+3A>G) c.805+3A>G (n.805+3A>G) c.739+3A>G (n.739+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711376A= | CA1542305021 | GHR | c.784+4A= (n.784+4A=) c.718+4A= (n.718+4A=) c.*396+4A= (n.*396+4A=) c.805+4A= (n.805+4A=) c.739+4A= (n.739+4A=) | |
5 | g.42711376A>C | CA559293445 | GHR | c.784+4A>C (n.784+4A>C) c.718+4A>C (n.718+4A>C) c.*396+4A>C (n.*396+4A>C) c.805+4A>C (n.805+4A>C) c.739+4A>C (n.739+4A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711376_42711377insTATTTT | CA3254487 | GHR | c.784+4_784+5insTATTTT (n.784+4_784+5insTATTTT) c.718+4_718+5insTATTTT (n.718+4_718+5insTATTTT) c.*396+4_*396+5insTATTTT (n.*396+4_*396+5insTATTTT) c.805+4_805+5insTATTTT (n.805+4_805+5insTATTTT) c.739+4_739+5insTATTTT (n.739+4_739+5insTATTTT) | dbSNP ExAC |
5 | g.42711378A= | CA1542305024 | GHR | c.784+6A= (n.784+6A=) c.718+6A= (n.718+6A=) c.*396+6A= (n.*396+6A=) c.805+6A= (n.805+6A=) c.739+6A= (n.739+6A=) | |
5 | g.42711378A>G | CA3254488 | GHR | c.784+6A>G (n.784+6A>G) c.718+6A>G (n.718+6A>G) c.*396+6A>G (n.*396+6A>G) c.805+6A>G (n.805+6A>G) c.739+6A>G (n.739+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711379del | CA2673724024 | GHR | c.784+7del (n.784+7del) c.718+7del (n.718+7del) c.*396+7del (n.*396+7del) c.805+7del (n.805+7del) c.739+7del (n.739+7del) | gnomAD v4 |
5 | g.42711379G>C | CA3254489 | GHR | c.784+7G>C (n.784+7G>C) c.718+7G>C (n.718+7G>C) c.*396+7G>C (n.*396+7G>C) c.805+7G>C (n.805+7G>C) c.739+7G>C (n.739+7G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711379G= | CA1542305027 | GHR | c.784+7G= (n.784+7G=) c.718+7G= (n.718+7G=) c.*396+7G= (n.*396+7G=) c.805+7G= (n.805+7G=) c.739+7G= (n.739+7G=) | |
5 | g.42711379G>T | CA2578302145 | GHR | c.784+7G>T (n.784+7G>T) c.718+7G>T (n.718+7G>T) c.*396+7G>T (n.*396+7G>T) c.805+7G>T (n.805+7G>T) c.739+7G>T (n.739+7G>T) | gnomAD v4 |
5 | g.42711383T>A | CA2766052885 | GHR | c.784+11T>A (n.784+11T>A) c.718+11T>A (n.718+11T>A) c.*396+11T>A (n.*396+11T>A) c.805+11T>A (n.805+11T>A) c.739+11T>A (n.739+11T>A) | |
5 | g.42711383T>C | CA1542305030 | GHR | c.784+11T>C (n.784+11T>C) c.718+11T>C (n.718+11T>C) c.*396+11T>C (n.*396+11T>C) c.805+11T>C (n.805+11T>C) c.739+11T>C (n.739+11T>C) | dbSNP |
5 | g.42711383T= | CA1542305029 | GHR | c.784+11T= (n.784+11T=) c.718+11T= (n.718+11T=) c.*396+11T= (n.*396+11T=) c.805+11T= (n.805+11T=) c.739+11T= (n.739+11T=) | |
5 | g.42711384A= | CA1542305032 | GHR | c.784+12A= (n.784+12A=) c.718+12A= (n.718+12A=) c.*396+12A= (n.*396+12A=) c.805+12A= (n.805+12A=) c.739+12A= (n.739+12A=) | |
5 | g.42711384A>G | CA559293446 | GHR | c.784+12A>G (n.784+12A>G) c.718+12A>G (n.718+12A>G) c.*396+12A>G (n.*396+12A>G) c.805+12A>G (n.805+12A>G) c.739+12A>G (n.739+12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711384_42711401del | CA2673724025 | GHR | c.784+12_784+29del (n.784+12_784+29del) c.718+12_718+29del (n.718+12_718+29del) c.*396+12_*396+29del (n.*396+12_*396+29del) c.805+12_805+29del (n.805+12_805+29del) c.739+12_739+29del (n.739+12_739+29del) | gnomAD v4 |
5 | g.42711385_42711386insCCAAACACACCCAACAC | CA2766052886 | GHR | c.784+13_784+14insCCAAACACACCCAACAC (n.784+13_784+14insCCAAACACACCCAACAC) c.718+13_718+14insCCAAACACACCCAACAC (n.718+13_718+14insCCAAACACACCCAACAC) c.*396+13_*396+14insCCAAACACACCCAACAC (n.*396+13_*396+14insCCAAACACACCCAACAC) c.805+13_805+14insCCAAACACACCCAACAC (n.805+13_805+14insCCAAACACACCCAACAC) c.739+13_739+14insCCAAACACACCCAACAC (n.739+13_739+14insCCAAACACACCCAACAC) | |
5 | g.42711387A>G | CA2673724026 | GHR | c.784+15A>G (n.784+15A>G) c.718+15A>G (n.718+15A>G) c.*396+15A>G (n.*396+15A>G) c.805+15A>G (n.805+15A>G) c.739+15A>G (n.739+15A>G) | gnomAD v4 |
5 | g.42711388G>A | CA3254490 | GHR | c.784+16G>A (n.784+16G>A) c.718+16G>A (n.718+16G>A) c.*396+16G>A (n.*396+16G>A) c.805+16G>A (n.805+16G>A) c.739+16G>A (n.739+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711388G>C | CA2578302146 | GHR | c.784+16G>C (n.784+16G>C) c.718+16G>C (n.718+16G>C) c.*396+16G>C (n.*396+16G>C) c.805+16G>C (n.805+16G>C) c.739+16G>C (n.739+16G>C) | gnomAD v4 |
5 | g.42711388G= | CA1542305034 | GHR | c.784+16G= (n.784+16G=) c.718+16G= (n.718+16G=) c.*396+16G= (n.*396+16G=) c.805+16G= (n.805+16G=) c.739+16G= (n.739+16G=) | |
5 | g.42711388G>T | CA2578302147 | GHR | c.784+16G>T (n.784+16G>T) c.718+16G>T (n.718+16G>T) c.*396+16G>T (n.*396+16G>T) c.805+16G>T (n.805+16G>T) c.739+16G>T (n.739+16G>T) | |
5 | g.42711389A>G | CA2673724027 | GHR | c.784+17A>G (n.784+17A>G) c.718+17A>G (n.718+17A>G) c.*396+17A>G (n.*396+17A>G) c.805+17A>G (n.805+17A>G) c.739+17A>G (n.739+17A>G) | gnomAD v4 |
5 | g.42711389A>T | CA2673724028 | GHR | c.784+17A>T (n.784+17A>T) c.718+17A>T (n.718+17A>T) c.*396+17A>T (n.*396+17A>T) c.805+17A>T (n.805+17A>T) c.739+17A>T (n.739+17A>T) | gnomAD v4 |
5 | g.42711390T>C | CA2578302148 | GHR | c.784+18T>C (n.784+18T>C) c.718+18T>C (n.718+18T>C) c.*396+18T>C (n.*396+18T>C) c.805+18T>C (n.805+18T>C) c.739+18T>C (n.739+18T>C) | |
5 | g.42711391T>A | CA2673724029 | GHR | c.784+19T>A (n.784+19T>A) c.718+19T>A (n.718+19T>A) c.*396+19T>A (n.*396+19T>A) c.805+19T>A (n.805+19T>A) c.739+19T>A (n.739+19T>A) | gnomAD v4 |
5 | g.42711393A= | CA1542305036 | GHR | c.784+21A= (n.784+21A=) c.718+21A= (n.718+21A=) c.*396+21A= (n.*396+21A=) c.805+21A= (n.805+21A=) c.739+21A= (n.739+21A=) | |
5 | g.42711393A>G | CA810832885 | GHR | c.784+21A>G (n.784+21A>G) c.718+21A>G (n.718+21A>G) c.*396+21A>G (n.*396+21A>G) c.805+21A>G (n.805+21A>G) c.739+21A>G (n.739+21A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711394A= | CA1542305038 | GHR | c.784+22A= (n.784+22A=) c.718+22A= (n.718+22A=) c.*396+22A= (n.*396+22A=) c.805+22A= (n.805+22A=) c.739+22A= (n.739+22A=) | |
5 | g.42711394A>C | CA1542305039 | GHR | c.784+22A>C (n.784+22A>C) c.718+22A>C (n.718+22A>C) c.*396+22A>C (n.*396+22A>C) c.805+22A>C (n.805+22A>C) c.739+22A>C (n.739+22A>C) | dbSNP |
5 | g.42711395A= | CA1542305041 | GHR | c.784+23A= (n.784+23A=) c.718+23A= (n.718+23A=) c.*396+23A= (n.*396+23A=) c.805+23A= (n.805+23A=) c.739+23A= (n.739+23A=) | |
5 | g.42711395A>G | CA559293447 | GHR | c.784+23A>G (n.784+23A>G) c.718+23A>G (n.718+23A>G) c.*396+23A>G (n.*396+23A>G) c.805+23A>G (n.805+23A>G) c.739+23A>G (n.739+23A>G) | dbSNP gnomAD v2 |
5 | g.42711396T>C | CA1542305046 | GHR | c.784+24T>C (n.784+24T>C) c.718+24T>C (n.718+24T>C) c.*396+24T>C (n.*396+24T>C) c.805+24T>C (n.805+24T>C) c.739+24T>C (n.739+24T>C) | dbSNP gnomAD v4 |
5 | g.42711396T= | CA1542305044 | GHR | c.784+24T= (n.784+24T=) c.718+24T= (n.718+24T=) c.*396+24T= (n.*396+24T=) c.805+24T= (n.805+24T=) c.739+24T= (n.739+24T=) | |
5 | g.42711397A= | CA1542305047 | GHR | c.784+25A= (n.784+25A=) c.718+25A= (n.718+25A=) c.*396+25A= (n.*396+25A=) c.805+25A= (n.805+25A=) c.739+25A= (n.739+25A=) | |
5 | g.42711397A>G | CA2673724030 | GHR | c.784+25A>G (n.784+25A>G) c.718+25A>G (n.718+25A>G) c.*396+25A>G (n.*396+25A>G) c.805+25A>G (n.805+25A>G) c.739+25A>G (n.739+25A>G) | gnomAD v4 |
5 | g.42711397_42711398insTAAAC | CA559293448 | GHR | c.784+25_784+26insTAAAC (n.784+25_784+26insTAAAC) c.718+25_718+26insTAAAC (n.718+25_718+26insTAAAC) c.*396+25_*396+26insTAAAC (n.*396+25_*396+26insTAAAC) c.805+25_805+26insTAAAC (n.805+25_805+26insTAAAC) c.739+25_739+26insTAAAC (n.739+25_739+26insTAAAC) | dbSNP gnomAD v2 |
5 | g.42711397_42711398insTTGAACCAGCCTTGCATCCCAGGGAT | CA2673724031 | GHR | c.784+25_784+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.784+25_784+26insTTGAACCAGCCTTGCATCCCAGGGAT) c.718+25_718+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.718+25_718+26insTTGAACCAGCCTTGCATCCCAGGGAT) c.*396+25_*396+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.*396+25_*396+26insTTGAACCAGCCTTGCATCCCAGGGAT) c.805+25_805+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.805+25_805+26insTTGAACCAGCCTTGCATCCCAGGGAT) c.739+25_739+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.739+25_739+26insTTGAACCAGCCTTGCATCCCAGGGAT) | gnomAD v4 |
5 | g.42711398G>A | CA3254491 | GHR | c.784+26G>A (n.784+26G>A) c.718+26G>A (n.718+26G>A) c.*396+26G>A (n.*396+26G>A) c.805+26G>A (n.805+26G>A) c.739+26G>A (n.739+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711398G= | CA1542305053 | GHR | c.784+26G= (n.784+26G=) c.718+26G= (n.718+26G=) c.*396+26G= (n.*396+26G=) c.805+26G= (n.805+26G=) c.739+26G= (n.739+26G=) | |
5 | g.42711398G>T | CA3254492 | GHR | c.784+26G>T (n.784+26G>T) c.718+26G>T (n.718+26G>T) c.*396+26G>T (n.*396+26G>T) c.805+26G>T (n.805+26G>T) c.739+26G>T (n.739+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711399T>A | CA2673724032 | GHR | c.784+27T>A (n.784+27T>A) c.718+27T>A (n.718+27T>A) c.*396+27T>A (n.*396+27T>A) c.805+27T>A (n.805+27T>A) c.739+27T>A (n.739+27T>A) | gnomAD v4 |
5 | g.42711399T>C | CA559293449 | GHR | c.784+27T>C (n.784+27T>C) c.718+27T>C (n.718+27T>C) c.*396+27T>C (n.*396+27T>C) c.805+27T>C (n.805+27T>C) c.739+27T>C (n.739+27T>C) | dbSNP gnomAD v2 |
5 | g.42711399T= | CA1542305057 | GHR | c.784+27T= (n.784+27T=) c.718+27T= (n.718+27T=) c.*396+27T= (n.*396+27T=) c.805+27T= (n.805+27T=) c.739+27T= (n.739+27T=) | |
5 | g.42711400A>G | CA2673724033 | GHR | c.784+28A>G (n.784+28A>G) c.718+28A>G (n.718+28A>G) c.*396+28A>G (n.*396+28A>G) c.805+28A>G (n.805+28A>G) c.739+28A>G (n.739+28A>G) | gnomAD v4 |
5 | g.42711402C>A | CA2673724034 | GHR | c.784+30C>A (n.784+30C>A) c.718+30C>A (n.718+30C>A) c.*396+30C>A (n.*396+30C>A) c.805+30C>A (n.805+30C>A) c.739+30C>A (n.739+30C>A) | gnomAD v4 |
5 | g.42711402C>G | CA2673724035 | GHR | c.784+30C>G (n.784+30C>G) c.718+30C>G (n.718+30C>G) c.*396+30C>G (n.*396+30C>G) c.805+30C>G (n.805+30C>G) c.739+30C>G (n.739+30C>G) | gnomAD v4 |
5 | g.42711403T>C | CA2673724036 | GHR | c.784+31T>C (n.784+31T>C) c.718+31T>C (n.718+31T>C) c.*396+31T>C (n.*396+31T>C) c.805+31T>C (n.805+31T>C) c.739+31T>C (n.739+31T>C) | gnomAD v4 |
5 | g.42711404A= | CA1542305059 | GHR | c.784+32A= (n.784+32A=) c.718+32A= (n.718+32A=) c.*396+32A= (n.*396+32A=) c.805+32A= (n.805+32A=) c.739+32A= (n.739+32A=) | |
5 | g.42711404A>T | CA1075490975 | GHR | c.784+32A>T (n.784+32A>T) c.718+32A>T (n.718+32A>T) c.*396+32A>T (n.*396+32A>T) c.805+32A>T (n.805+32A>T) c.739+32A>T (n.739+32A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711404_42711416del | CA2673724037 | GHR | c.784+32_784+44del (n.784+32_784+44del) c.718+32_718+44del (n.718+32_718+44del) c.*396+32_*396+44del (n.*396+32_*396+44del) c.805+32_805+44del (n.805+32_805+44del) c.739+32_739+44del (n.739+32_739+44del) | gnomAD v4 |
5 | g.42711406C>A | CA3254493 | GHR | c.784+34C>A (n.784+34C>A) c.718+34C>A (n.718+34C>A) c.*396+34C>A (n.*396+34C>A) c.805+34C>A (n.805+34C>A) c.739+34C>A (n.739+34C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711406C= | CA1542305061 | GHR | c.784+34C= (n.784+34C=) c.718+34C= (n.718+34C=) c.*396+34C= (n.*396+34C=) c.805+34C= (n.805+34C=) c.739+34C= (n.739+34C=) | |
5 | g.42711407C>A | CA2578302149 | GHR | c.784+35C>A (n.784+35C>A) c.718+35C>A (n.718+35C>A) c.*396+35C>A (n.*396+35C>A) c.805+35C>A (n.805+35C>A) c.739+35C>A (n.739+35C>A) | gnomAD v4 |
5 | g.42711407C= | CA1542305063 | GHR | c.784+35C= (n.784+35C=) c.718+35C= (n.718+35C=) c.*396+35C= (n.*396+35C=) c.805+35C= (n.805+35C=) c.739+35C= (n.739+35C=) | |
5 | g.42711407C>T | CA559293450 | GHR | c.784+35C>T (n.784+35C>T) c.718+35C>T (n.718+35C>T) c.*396+35C>T (n.*396+35C>T) c.805+35C>T (n.805+35C>T) c.739+35C>T (n.739+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711408T>C | CA2673724038 | GHR | c.784+36T>C (n.784+36T>C) c.718+36T>C (n.718+36T>C) c.*396+36T>C (n.*396+36T>C) c.805+36T>C (n.805+36T>C) c.739+36T>C (n.739+36T>C) | gnomAD v4 |
5 | g.42711409G>C | CA118049498 | GHR | c.784+37G>C (n.784+37G>C) c.718+37G>C (n.718+37G>C) c.*396+37G>C (n.*396+37G>C) c.805+37G>C (n.805+37G>C) c.739+37G>C (n.739+37G>C) | dbSNP |
5 | g.42711409G= | CA1542305065 | GHR | c.784+37G= (n.784+37G=) c.718+37G= (n.718+37G=) c.*396+37G= (n.*396+37G=) c.805+37G= (n.805+37G=) c.739+37G= (n.739+37G=) | |
5 | g.42711410G>A | CA118049499 | GHR | c.784+38G>A (n.784+38G>A) c.718+38G>A (n.718+38G>A) c.*396+38G>A (n.*396+38G>A) c.805+38G>A (n.805+38G>A) c.739+38G>A (n.739+38G>A) | dbSNP |
5 | g.42711410G= | CA1542305067 | GHR | c.784+38G= (n.784+38G=) c.718+38G= (n.718+38G=) c.*396+38G= (n.*396+38G=) c.805+38G= (n.805+38G=) c.739+38G= (n.739+38G=) | |
5 | g.42711411C>A | CA2578302150 | GHR | c.784+39C>A (n.784+39C>A) c.718+39C>A (n.718+39C>A) c.*396+39C>A (n.*396+39C>A) c.805+39C>A (n.805+39C>A) c.739+39C>A (n.739+39C>A) | gnomAD v4 |
5 | g.42711411C= | CA1542305069 | GHR | c.784+39C= (n.784+39C=) c.718+39C= (n.718+39C=) c.*396+39C= (n.*396+39C=) c.805+39C= (n.805+39C=) c.739+39C= (n.739+39C=) | |
5 | g.42711411C>T | CA3254494 | GHR | c.784+39C>T (n.784+39C>T) c.718+39C>T (n.718+39C>T) c.*396+39C>T (n.*396+39C>T) c.805+39C>T (n.805+39C>T) c.739+39C>T (n.739+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711416G>A | CA2578302151 | GHR | c.784+44G>A (n.784+44G>A) c.718+44G>A (n.718+44G>A) c.*396+44G>A (n.*396+44G>A) c.805+44G>A (n.805+44G>A) c.739+44G>A (n.739+44G>A) | gnomAD v4 |
5 | g.42711416G= | CA1542305072 | GHR | c.784+44G= (n.784+44G=) c.718+44G= (n.718+44G=) c.*396+44G= (n.*396+44G=) c.805+44G= (n.805+44G=) c.739+44G= (n.739+44G=) | |
5 | g.42711416G>T | CA1075490984 | GHR | c.784+44G>T (n.784+44G>T) c.718+44G>T (n.718+44G>T) c.*396+44G>T (n.*396+44G>T) c.805+44G>T (n.805+44G>T) c.739+44G>T (n.739+44G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711418C>A | CA2578302152 | GHR | c.784+46C>A (n.784+46C>A) c.718+46C>A (n.718+46C>A) c.*396+46C>A (n.*396+46C>A) c.805+46C>A (n.805+46C>A) c.739+46C>A (n.739+46C>A) | gnomAD v4 |
5 | g.42711418C>T | CA2673724039 | GHR | c.784+46C>T (n.784+46C>T) c.718+46C>T (n.718+46C>T) c.*396+46C>T (n.*396+46C>T) c.805+46C>T (n.805+46C>T) c.739+46C>T (n.739+46C>T) | gnomAD v4 |
5 | g.42711419A= | CA1542305075 | GHR | c.784+47A= (n.784+47A=) c.718+47A= (n.718+47A=) c.*396+47A= (n.*396+47A=) c.805+47A= (n.805+47A=) c.739+47A= (n.739+47A=) | |
5 | g.42711419A>G | CA3254495 | GHR | c.784+47A>G (n.784+47A>G) c.718+47A>G (n.718+47A>G) c.*396+47A>G (n.*396+47A>G) c.805+47A>G (n.805+47A>G) c.739+47A>G (n.739+47A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711420_42711425del | CA2673724040 | GHR | c.784+48_784+53del (n.784+48_784+53del) c.718+48_718+53del (n.718+48_718+53del) c.*396+48_*396+53del (n.*396+48_*396+53del) c.805+48_805+53del (n.805+48_805+53del) c.739+48_739+53del (n.739+48_739+53del) | gnomAD v4 |
5 | g.42711420A= | CA1542305077 | GHR | c.784+48A= (n.784+48A=) c.718+48A= (n.718+48A=) c.*396+48A= (n.*396+48A=) c.805+48A= (n.805+48A=) c.739+48A= (n.739+48A=) | |
5 | g.42711420A>C | CA1542305079 | GHR | c.784+48A>C (n.784+48A>C) c.718+48A>C (n.718+48A>C) c.*396+48A>C (n.*396+48A>C) c.805+48A>C (n.805+48A>C) c.739+48A>C (n.739+48A>C) | dbSNP |
5 | g.42711420A>G | CA3254496 | GHR | c.784+48A>G (n.784+48A>G) c.718+48A>G (n.718+48A>G) c.*396+48A>G (n.*396+48A>G) c.805+48A>G (n.805+48A>G) c.739+48A>G (n.739+48A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711421T>C | CA1542305083 | GHR | c.784+49T>C (n.784+49T>C) c.718+49T>C (n.718+49T>C) c.*396+49T>C (n.*396+49T>C) c.805+49T>C (n.805+49T>C) c.739+49T>C (n.739+49T>C) | dbSNP |
5 | g.42711421T= | CA1542305082 | GHR | c.784+49T= (n.784+49T=) c.718+49T= (n.718+49T=) c.*396+49T= (n.*396+49T=) c.805+49T= (n.805+49T=) c.739+49T= (n.739+49T=) | |
5 | g.42711422A= | CA1542305085 | GHR | c.784+50A= (n.784+50A=) c.718+50A= (n.718+50A=) c.*396+50A= (n.*396+50A=) c.805+50A= (n.805+50A=) c.739+50A= (n.739+50A=) | |
5 | g.42711422A>G | CA3254497 | GHR | c.784+50A>G (n.784+50A>G) c.718+50A>G (n.718+50A>G) c.*396+50A>G (n.*396+50A>G) c.805+50A>G (n.805+50A>G) c.739+50A>G (n.739+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711426C>A | CA1542305088 | GHR | c.784+54C>A (n.784+54C>A) c.718+54C>A (n.718+54C>A) c.*396+54C>A (n.*396+54C>A) c.805+54C>A (n.805+54C>A) c.739+54C>A (n.739+54C>A) | dbSNP gnomAD v4 |
5 | g.42711426C= | CA1542305087 | GHR | c.784+54C= (n.784+54C=) c.718+54C= (n.718+54C=) c.*396+54C= (n.*396+54C=) c.805+54C= (n.805+54C=) c.739+54C= (n.739+54C=) | |
5 | g.42711427A>T | CA2673724041 | GHR | c.784+55A>T (n.784+55A>T) c.718+55A>T (n.718+55A>T) c.*396+55A>T (n.*396+55A>T) c.805+55A>T (n.805+55A>T) c.739+55A>T (n.739+55A>T) | gnomAD v4 |
5 | g.42711428G>C | CA2673724042 | GHR | c.784+56G>C (n.784+56G>C) c.718+56G>C (n.718+56G>C) c.*396+56G>C (n.*396+56G>C) c.805+56G>C (n.805+56G>C) c.739+56G>C (n.739+56G>C) | gnomAD v4 |
5 | g.42711430T>C | CA118049500 | GHR | c.784+58T>C (n.784+58T>C) c.718+58T>C (n.718+58T>C) c.*396+58T>C (n.*396+58T>C) c.805+58T>C (n.805+58T>C) c.739+58T>C (n.739+58T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711430T= | CA1542305090 | GHR | c.784+58T= (n.784+58T=) c.718+58T= (n.718+58T=) c.*396+58T= (n.*396+58T=) c.805+58T= (n.805+58T=) c.739+58T= (n.739+58T=) | |
5 | g.42711430_42711435del | CA2673724043 | GHR | c.784+58_784+63del (n.784+58_784+63del) c.718+58_718+63del (n.718+58_718+63del) c.*396+58_*396+63del (n.*396+58_*396+63del) c.805+58_805+63del (n.805+58_805+63del) c.739+58_739+63del (n.739+58_739+63del) | gnomAD v4 |
5 | g.42711431G>C | CA2673724044 | GHR | c.784+59G>C (n.784+59G>C) c.718+59G>C (n.718+59G>C) c.*396+59G>C (n.*396+59G>C) c.805+59G>C (n.805+59G>C) c.739+59G>C (n.739+59G>C) | gnomAD v4 |
5 | g.42711431G>T | CA2673724045 | GHR | c.784+59G>T (n.784+59G>T) c.718+59G>T (n.718+59G>T) c.*396+59G>T (n.*396+59G>T) c.805+59G>T (n.805+59G>T) c.739+59G>T (n.739+59G>T) | gnomAD v4 |
5 | g.42711432A>G | CA2673724046 | GHR | c.784+60A>G (n.784+60A>G) c.718+60A>G (n.718+60A>G) c.*396+60A>G (n.*396+60A>G) c.805+60A>G (n.805+60A>G) c.739+60A>G (n.739+60A>G) | gnomAD v4 |
5 | g.42711435C>A | CA2673724047 | GHR | c.784+63C>A (n.784+63C>A) c.718+63C>A (n.718+63C>A) c.*396+63C>A (n.*396+63C>A) c.805+63C>A (n.805+63C>A) c.739+63C>A (n.739+63C>A) | gnomAD v4 |
5 | g.42711435C>T | CA2673724048 | GHR | c.784+63C>T (n.784+63C>T) c.718+63C>T (n.718+63C>T) c.*396+63C>T (n.*396+63C>T) c.805+63C>T (n.805+63C>T) c.739+63C>T (n.739+63C>T) | gnomAD v4 |
5 | g.42711436A>G | CA2673724049 | GHR | c.784+64A>G (n.784+64A>G) c.718+64A>G (n.718+64A>G) c.*396+64A>G (n.*396+64A>G) c.805+64A>G (n.805+64A>G) c.739+64A>G (n.739+64A>G) | gnomAD v4 |
5 | g.42711437C>A | CA118049501 | GHR | c.784+65C>A (n.784+65C>A) c.718+65C>A (n.718+65C>A) c.*396+65C>A (n.*396+65C>A) c.805+65C>A (n.805+65C>A) c.739+65C>A (n.739+65C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711437C= | CA1542305094 | GHR | c.784+65C= (n.784+65C=) c.718+65C= (n.718+65C=) c.*396+65C= (n.*396+65C=) c.805+65C= (n.805+65C=) c.739+65C= (n.739+65C=) | |
5 | g.42711437C>T | CA2673724050 | GHR | c.784+65C>T (n.784+65C>T) c.718+65C>T (n.718+65C>T) c.*396+65C>T (n.*396+65C>T) c.805+65C>T (n.805+65C>T) c.739+65C>T (n.739+65C>T) | gnomAD v4 |
5 | g.42711438C>A | CA118049502 | GHR | c.784+66C>A (n.784+66C>A) c.718+66C>A (n.718+66C>A) c.*396+66C>A (n.*396+66C>A) c.805+66C>A (n.805+66C>A) c.739+66C>A (n.739+66C>A) | dbSNP gnomAD v4 |
5 | g.42711438C= | CA1542305097 | GHR | c.784+66C= (n.784+66C=) c.718+66C= (n.718+66C=) c.*396+66C= (n.*396+66C=) c.805+66C= (n.805+66C=) c.739+66C= (n.739+66C=) | |
5 | g.42711438C>T | CA2578302153 | GHR | c.784+66C>T (n.784+66C>T) c.718+66C>T (n.718+66C>T) c.*396+66C>T (n.*396+66C>T) c.805+66C>T (n.805+66C>T) c.739+66C>T (n.739+66C>T) | |
5 | g.42711439C>A | CA810832902 | GHR | c.784+67C>A (n.784+67C>A) c.718+67C>A (n.718+67C>A) c.*396+67C>A (n.*396+67C>A) c.805+67C>A (n.805+67C>A) c.739+67C>A (n.739+67C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711439C= | CA1542305099 | GHR | c.784+67C= (n.784+67C=) c.718+67C= (n.718+67C=) c.*396+67C= (n.*396+67C=) c.805+67C= (n.805+67C=) c.739+67C= (n.739+67C=) | |
5 | g.42711440C>A | CA2673724051 | GHR | c.784+68C>A (n.784+68C>A) c.718+68C>A (n.718+68C>A) c.*396+68C>A (n.*396+68C>A) c.805+68C>A (n.805+68C>A) c.739+68C>A (n.739+68C>A) | gnomAD v4 |
5 | g.42711441del | CA2673724052 | GHR | c.784+69del (n.784+69del) c.718+69del (n.718+69del) c.*396+69del (n.*396+69del) c.805+69del (n.805+69del) c.739+69del (n.739+69del) | gnomAD v4 |
5 | g.42711441T>C | CA2578302154 | GHR | c.784+69T>C (n.784+69T>C) c.718+69T>C (n.718+69T>C) c.*396+69T>C (n.*396+69T>C) c.805+69T>C (n.805+69T>C) c.739+69T>C (n.739+69T>C) | |
5 | g.42711442G>A | CA2673724053 | GHR | c.784+70G>A (n.784+70G>A) c.718+70G>A (n.718+70G>A) c.*396+70G>A (n.*396+70G>A) c.805+70G>A (n.805+70G>A) c.739+70G>A (n.739+70G>A) | gnomAD v4 |
5 | g.42711442G>C | CA2578302155 | GHR | c.784+70G>C (n.784+70G>C) c.718+70G>C (n.718+70G>C) c.*396+70G>C (n.*396+70G>C) c.805+70G>C (n.805+70G>C) c.739+70G>C (n.739+70G>C) | gnomAD v4 |
5 | g.42711442G>T | CA2673724054 | GHR | c.784+70G>T (n.784+70G>T) c.718+70G>T (n.718+70G>T) c.*396+70G>T (n.*396+70G>T) c.805+70G>T (n.805+70G>T) c.739+70G>T (n.739+70G>T) | gnomAD v4 |