| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7585749_7585773delinsCCGCTCGGGATCTCGCTCCGGATCT | CA1608615613 | DSP | c.7158_7182delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2386=) c.8487_8511delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2829=) c.6690_6714delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2230=) | |
| 6 | g.7585755_7585778del | CA658683438 | DSP | c.7164_7187del (p.Gly2389_Ser2396del) c.8493_8516del (p.Gly2832_Ser2839del) c.6696_6719del (p.Gly2233_Ser2240del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585770_7585781dup | CA3628104 | DSP | c.7179_7190dup (p.Gly2397_Ser2398insSerArgSerGly) c.8508_8519dup (p.Gly2840_Ser2841insSerArgSerGly) c.6711_6722dup (p.Gly2241_Ser2242insSerArgSerGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585770_7585781del | CA007688 | DSP | c.7179_7190del (p.Ser2394_Gly2397del) c.8508_8519del (p.Ser2837_Gly2840del) c.6711_6722del (p.Ser2238_Gly2241del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585770_7585779delinsATCTCGCTCC | CA1608615789 | DSP | c.7179_7188delinsATCTCGCTCC (p.Gly2393=) c.8508_8517delinsATCTCGCTCC (p.Gly2836=) c.6711_6720delinsATCTCGCTCC (p.Gly2237=) | |
| 6 | g.7585770_7585779delinsGTCCCGCAGT | CA913190060 | DSP | c.7179_7188delinsGTCCCGCAGT (p.Gly2393=) c.8508_8517delinsGTCCCGCAGT (p.Gly2836=) c.6711_6720delinsGTCCCGCAGT (p.Gly2237=) | ClinVar dbSNP |
| 6 | g.7585771T>A | CA362695280 | DSP | c.7180T>A (p.Ser2394Thr) c.8509T>A (p.Ser2837Thr) c.6712T>A (p.Ser2238Thr) | ClinVar dbSNP |
| 6 | g.7585771T>C | CA362695281 | DSP | c.7180T>C (p.Ser2394Pro) c.8509T>C (p.Ser2837Pro) c.6712T>C (p.Ser2238Pro) | |
| 6 | g.7585771T>G | CA362695282 | DSP | c.7180T>G (p.Ser2394Ala) c.8509T>G (p.Ser2837Ala) c.6712T>G (p.Ser2238Ala) | |
| 6 | g.7585771T= | CA1608615802 | DSP | c.7180T= (p.Ser2394=) c.8509T= (p.Ser2837=) c.6712T= (p.Ser2238=) | |
| 6 | g.7585772C>A | CA362695283 | DSP | c.7181C>A (p.Ser2394Tyr) c.8510C>A (p.Ser2837Tyr) c.6713C>A (p.Ser2238Tyr) | |
| 6 | g.7585772C>G | CA362695284 | DSP | c.7181C>G (p.Ser2394Cys) c.8510C>G (p.Ser2837Cys) c.6713C>G (p.Ser2238Cys) | dbSNP |
| 6 | g.7585772C>T | CA362695285 | DSP | c.7181C>T (p.Ser2394Phe) c.8510C>T (p.Ser2837Phe) c.6713C>T (p.Ser2238Phe) | gnomAD v4 |
| 6 | g.7585773T>A | CA448531261 | DSP | c.7182T>A (p.Ser2394=) c.8511T>A (p.Ser2837=) c.6714T>A (p.Ser2238=) | |
| 6 | g.7585773T>C | CA052649 | DSP | c.7182T>C (p.Ser2394=) c.8511T>C (p.Ser2837=) c.6714T>C (p.Ser2238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585773T>G | CA448531262 | DSP | c.7182T>G (p.Ser2394=) c.8511T>G (p.Ser2837=) c.6714T>G (p.Ser2238=) | |
| 6 | g.7585773T= | CA1608615811 | DSP | c.7182T= (p.Ser2394=) c.8511T= (p.Ser2837=) c.6714T= (p.Ser2238=) | |
| 6 | g.7585774C>A | CA362695287 | DSP | c.7183C>A (p.Arg2395Ser) c.8512C>A (p.Arg2838Ser) c.6715C>A (p.Arg2239Ser) | gnomAD v4 |
| 6 | g.7585774C= | CA1608615823 | DSP | c.7183C= (p.Arg2395=) c.8512C= (p.Arg2838=) c.6715C= (p.Arg2239=) | |
| 6 | g.7585774C>G | CA362695286 | DSP | c.7183C>G (p.Arg2395Gly) c.8512C>G (p.Arg2838Gly) c.6715C>G (p.Arg2239Gly) | |
| 6 | g.7585774C>T | CA052658 | DSP | c.7183C>T (p.Arg2395Cys) c.8512C>T (p.Arg2838Cys) c.6715C>T (p.Arg2239Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585777_7585788dup | CA2677222124 | DSP | c.7186_7197dup (p.Arg2399_Ser2400insSerGlySerArg) c.8515_8526dup (p.Arg2842_Ser2843insSerGlySerArg) c.6718_6729dup (p.Arg2243_Ser2244insSerGlySerArg) | ClinVar gnomAD v4 |
| 6 | g.7585775G>A | CA133978230 | DSP | c.7184G>A (p.Arg2395His) c.8513G>A (p.Arg2838His) c.6716G>A (p.Arg2239His) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585775G>C | CA362695288 | DSP | c.7184G>C (p.Arg2395Pro) c.8513G>C (p.Arg2838Pro) c.6716G>C (p.Arg2239Pro) | dbSNP |
| 6 | g.7585775G= | CA1608615828 | DSP | c.7184G= (p.Arg2395=) c.8513G= (p.Arg2838=) c.6716G= (p.Arg2239=) | |
| 6 | g.7585775G>T | CA362695289 | DSP | c.7184G>T (p.Arg2395Leu) c.8513G>T (p.Arg2838Leu) c.6716G>T (p.Arg2239Leu) | gnomAD v4 |
| 6 | g.7585776C>A | CA448531263 | DSP | c.7185C>A (p.Arg2395=) c.8514C>A (p.Arg2838=) c.6717C>A (p.Arg2239=) | |
| 6 | g.7585776C= | CA1608615834 | DSP | c.7185C= (p.Arg2395=) c.8514C= (p.Arg2838=) c.6717C= (p.Arg2239=) | |
| 6 | g.7585776C>G | CA448531264 | DSP | c.7185C>G (p.Arg2395=) c.8514C>G (p.Arg2838=) c.6717C>G (p.Arg2239=) | gnomAD v4 |
| 6 | g.7585776C>T | CA448531265 | DSP | c.7185C>T (p.Arg2395=) c.8514C>T (p.Arg2838=) c.6717C>T (p.Arg2239=) | |
| 6 | g.7585776_7585777insAG | CA052667 | DSP | c.7185_7186insAG (p.Gly2397ProfsTer?) c.8514_8515insAG (p.Gly2840ProfsTer?) c.6717_6718insAG (p.Gly2241ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585777T>A | CA362695290 | DSP | c.7186T>A (p.Ser2396Thr) c.8515T>A (p.Ser2839Thr) c.6718T>A (p.Ser2240Thr) | dbSNP |
| 6 | g.7585777T>C | CA362695291 | DSP | c.7186T>C (p.Ser2396Pro) c.8515T>C (p.Ser2839Pro) c.6718T>C (p.Ser2240Pro) | |
| 6 | g.7585777T>G | CA362695292 | DSP | c.7186T>G (p.Ser2396Ala) c.8515T>G (p.Ser2839Ala) c.6718T>G (p.Ser2240Ala) | ClinVar |
| 6 | g.7585777T= | CA1608615845 | DSP | c.7186T= (p.Ser2396=) c.8515T= (p.Ser2839=) c.6718T= (p.Ser2240=) | |
| 6 | g.7585777_7585779delinsAGT | CA658796723 | DSP | c.7186_7188delinsAGT (p.Ser2396=) c.8515_8517delinsAGT (p.Ser2839=) c.6718_6720delinsAGT (p.Ser2240=) | ClinVar dbSNP |
| 6 | g.7585777_7585779delinsTCC | CA1608615842 | DSP | c.7186_7188delinsTCC (p.Ser2396=) c.8515_8517delinsTCC (p.Ser2839=) c.6718_6720delinsTCC (p.Ser2240=) | |
| 6 | g.7585778C>A | CA362695293 | DSP | c.7187C>A (p.Ser2396Tyr) c.8516C>A (p.Ser2839Tyr) c.6719C>A (p.Ser2240Tyr) | |
| 6 | g.7585778C= | CA1608615852 | DSP | c.7187C= (p.Ser2396=) c.8516C= (p.Ser2839=) c.6719C= (p.Ser2240=) | |
| 6 | g.7585778C>G | CA052682 | DSP | c.7187C>G (p.Ser2396Cys) c.8516C>G (p.Ser2839Cys) c.6719C>G (p.Ser2240Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585778C>T | CA362695294 | DSP | c.7187C>T (p.Ser2396Phe) c.8516C>T (p.Ser2839Phe) c.6719C>T (p.Ser2240Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585778_7585779del | CA052674 | DSP | c.7187_7188del (p.Ser2396TrpfsTer12) c.8516_8517del (p.Ser2839TrpfsTer12) c.6719_6720del (p.Ser2240TrpfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585779C>A | CA448531266 | DSP | c.7188C>A (p.Ser2396=) c.8517C>A (p.Ser2839=) c.6720C>A (p.Ser2240=) | |
| 6 | g.7585779C= | CA1608615856 | DSP | c.7188C= (p.Ser2396=) c.8517C= (p.Ser2839=) c.6720C= (p.Ser2240=) | |
| 6 | g.7585779C>G | CA448531267 | DSP | c.7188C>G (p.Ser2396=) c.8517C>G (p.Ser2839=) c.6720C>G (p.Ser2240=) | ClinVar gnomAD v4 |
| 6 | g.7585779C>T | CA448531268 | DSP | c.7188C>T (p.Ser2396=) c.8517C>T (p.Ser2839=) c.6720C>T (p.Ser2240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585780G>A | CA362695296 | DSP | c.7189G>A (p.Gly2397Arg) c.8518G>A (p.Gly2840Arg) c.6721G>A (p.Gly2241Arg) | ClinVar dbSNP |
| 6 | g.7585780G>C | CA362695295 | DSP | c.7189G>C (p.Gly2397Arg) c.8518G>C (p.Gly2840Arg) c.6721G>C (p.Gly2241Arg) | |
| 6 | g.7585780G= | CA1608615864 | DSP | c.7189G= (p.Gly2397=) c.8518G= (p.Gly2840=) c.6721G= (p.Gly2241=) | |
| 6 | g.7585780G>T | CA052690 | DSP | c.7189G>T (p.Gly2397Trp) c.8518G>T (p.Gly2840Trp) c.6721G>T (p.Gly2241Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585788_7585799dup | CA1608615861 | DSP | c.7197_7208dup (p.Arg2403_Arg2404insSerGlySerArg) c.8526_8537dup (p.Arg2846_Arg2847insSerGlySerArg) c.6729_6740dup (p.Arg2247_Arg2248insSerGlySerArg) | dbSNP |
| 6 | g.7585788_7585799del | CA2677222188 | DSP | c.7197_7208del (p.Ser2400_Arg2403del) c.8526_8537del (p.Ser2843_Arg2846del) c.6729_6740del (p.Ser2244_Arg2247del) | gnomAD v4 |
| 6 | g.7585781G>A | CA362695299 | DSP | c.7190G>A (p.Gly2397Glu) c.8519G>A (p.Gly2840Glu) c.6722G>A (p.Gly2241Glu) | ClinVar dbSNP |
| 6 | g.7585781G>C | CA362695297 | DSP | c.7190G>C (p.Gly2397Ala) c.8519G>C (p.Gly2840Ala) c.6722G>C (p.Gly2241Ala) | |
| 6 | g.7585781G= | CA1608615870 | DSP | c.7190G= (p.Gly2397=) c.8519G= (p.Gly2840=) c.6722G= (p.Gly2241=) | |
| 6 | g.7585781G>T | CA362695298 | DSP | c.7190G>T (p.Gly2397Val) c.8519G>T (p.Gly2840Val) c.6722G>T (p.Gly2241Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585782G>A | CA448531269 | DSP | c.7191G>A (p.Gly2397=) c.8520G>A (p.Gly2840=) c.6723G>A (p.Gly2241=) | |
| 6 | g.7585782G>C | CA448531270 | DSP | c.7191G>C (p.Gly2397=) c.8520G>C (p.Gly2840=) c.6723G>C (p.Gly2241=) | |
| 6 | g.7585782G>T | CA448531271 | DSP | c.7191G>T (p.Gly2397=) c.8520G>T (p.Gly2840=) c.6723G>T (p.Gly2241=) | gnomAD v4 |
| 6 | g.7585783T>A | CA362695300 | DSP | c.7192T>A (p.Ser2398Thr) c.8521T>A (p.Ser2841Thr) c.6724T>A (p.Ser2242Thr) | |
| 6 | g.7585783T>C | CA362695301 | DSP | c.7192T>C (p.Ser2398Pro) c.8521T>C (p.Ser2841Pro) c.6724T>C (p.Ser2242Pro) | |
| 6 | g.7585783T>G | CA362695302 | DSP | c.7192T>G (p.Ser2398Ala) c.8521T>G (p.Ser2841Ala) c.6724T>G (p.Ser2242Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585783T= | CA1608615900 | DSP | c.7192T= (p.Ser2398=) c.8521T= (p.Ser2841=) c.6724T= (p.Ser2242=) | |
| 6 | g.7585784C>A | CA362695303 | DSP | c.7193C>A (p.Ser2398Tyr) c.8522C>A (p.Ser2841Tyr) c.6725C>A (p.Ser2242Tyr) | |
| 6 | g.7585784C>G | CA362695304 | DSP | c.7193C>G (p.Ser2398Cys) c.8522C>G (p.Ser2841Cys) c.6725C>G (p.Ser2242Cys) | |
| 6 | g.7585784C>T | CA362695305 | DSP | c.7193C>T (p.Ser2398Phe) c.8522C>T (p.Ser2841Phe) c.6725C>T (p.Ser2242Phe) | |
| 6 | g.7585785C>A | CA448531272 | DSP | c.7194C>A (p.Ser2398=) c.8523C>A (p.Ser2841=) c.6726C>A (p.Ser2242=) | |
| 6 | g.7585785C>G | CA448531273 | DSP | c.7194C>G (p.Ser2398=) c.8523C>G (p.Ser2841=) c.6726C>G (p.Ser2242=) | |
| 6 | g.7585785C>T | CA448531274 | DSP | c.7194C>T (p.Ser2398=) c.8523C>T (p.Ser2841=) c.6726C>T (p.Ser2242=) | gnomAD v4 |
| 6 | g.7585786C>A | CA362695306 | DSP | c.7195C>A (p.Arg2399Ser) c.8524C>A (p.Arg2842Ser) c.6727C>A (p.Arg2243Ser) | |
| 6 | g.7585786C= | CA1608615915 | DSP | c.7195C= (p.Arg2399=) c.8524C= (p.Arg2842=) c.6727C= (p.Arg2243=) | |
| 6 | g.7585786C>G | CA362695307 | DSP | c.7195C>G (p.Arg2399Gly) c.8524C>G (p.Arg2842Gly) c.6727C>G (p.Arg2243Gly) | ClinVar |
| 6 | g.7585786C>T | CA16612075 | DSP | c.7195C>T (p.Arg2399Cys) c.8524C>T (p.Arg2842Cys) c.6727C>T (p.Arg2243Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585787G>A | CA362695308 | DSP | c.7196G>A (p.Arg2399His) c.8525G>A (p.Arg2842His) c.6728G>A (p.Arg2243His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585787G>C | CA362695309 | DSP | c.7196G>C (p.Arg2399Pro) c.8525G>C (p.Arg2842Pro) c.6728G>C (p.Arg2243Pro) | |
| 6 | g.7585787G= | CA1608615923 | DSP | c.7196G= (p.Arg2399=) c.8525G= (p.Arg2842=) c.6728G= (p.Arg2243=) | |
| 6 | g.7585787G>T | CA362695310 | DSP | c.7196G>T (p.Arg2399Leu) c.8525G>T (p.Arg2842Leu) c.6728G>T (p.Arg2243Leu) | ClinVar dbSNP |
| 6 | g.7585788C>A | CA448531275 | DSP | c.7197C>A (p.Arg2399=) c.8526C>A (p.Arg2842=) c.6729C>A (p.Arg2243=) | |
| 6 | g.7585788C= | CA1608615931 | DSP | c.7197C= (p.Arg2399=) c.8526C= (p.Arg2842=) c.6729C= (p.Arg2243=) | |
| 6 | g.7585788C>G | CA133978248 | DSP | c.7197C>G (p.Arg2399=) c.8526C>G (p.Arg2842=) c.6729C>G (p.Arg2243=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585788C>T | CA448531276 | DSP | c.7197C>T (p.Arg2399=) c.8526C>T (p.Arg2842=) c.6729C>T (p.Arg2243=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585788_7585800delinsCAGTGGGTCCCGG | CA1608615936 | DSP | c.7197_7209delinsCAGTGGGTCCCGG (p.Arg2399=) c.8526_8538delinsCAGTGGGTCCCGG (p.Arg2842=) c.6729_6741delinsCAGTGGGTCCCGG (p.Arg2243=) | |
| 6 | g.7585789A= | CA1608615967 | DSP | c.7198A= (p.Ser2400=) c.8527A= (p.Ser2843=) c.6730A= (p.Ser2244=) | |
| 6 | g.7585789A>C | CA362695311 | DSP | c.7198A>C (p.Ser2400Arg) c.8527A>C (p.Ser2843Arg) c.6730A>C (p.Ser2244Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585789A>G | CA362695312 | DSP | c.7198A>G (p.Ser2400Gly) c.8527A>G (p.Ser2843Gly) c.6730A>G (p.Ser2244Gly) | |
| 6 | g.7585789A>T | CA362695313 | DSP | c.7198A>T (p.Ser2400Cys) c.8527A>T (p.Ser2843Cys) c.6730A>T (p.Ser2244Cys) | dbSNP |
| 6 | g.7585791_7585802del | CA007705 | DSP | c.7200_7211del (p.Ser2400_Arg2403del) c.8529_8540del (p.Ser2843_Arg2846del) c.6732_6743del (p.Ser2244_Arg2247del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585790G>A | CA362695314 | DSP | c.7199G>A (p.Ser2400Asn) c.8528G>A (p.Ser2843Asn) c.6731G>A (p.Ser2244Asn) | |
| 6 | g.7585790G>C | CA362695315 | DSP | c.7199G>C (p.Ser2400Thr) c.8528G>C (p.Ser2843Thr) c.6731G>C (p.Ser2244Thr) | |
| 6 | g.7585790G= | CA1608615976 | DSP | c.7199G= (p.Ser2400=) c.8528G= (p.Ser2843=) c.6731G= (p.Ser2244=) | |
| 6 | g.7585790G>T | CA362695316 | DSP | c.7199G>T (p.Ser2400Ile) c.8528G>T (p.Ser2843Ile) c.6731G>T (p.Ser2244Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585791T>A | CA362695317 | DSP | c.7200T>A (p.Ser2400Arg) c.8529T>A (p.Ser2843Arg) c.6732T>A (p.Ser2244Arg) | |
| 6 | g.7585791T>C | CA052709 | DSP | c.7200T>C (p.Ser2400=) c.8529T>C (p.Ser2843=) c.6732T>C (p.Ser2244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585791T>G | CA362695318 | DSP | c.7200T>G (p.Ser2400Arg) c.8529T>G (p.Ser2843Arg) c.6732T>G (p.Ser2244Arg) | gnomAD v4 |
| 6 | g.7585791T= | CA1608615984 | DSP | c.7200T= (p.Ser2400=) c.8529T= (p.Ser2843=) c.6732T= (p.Ser2244=) | |
| 6 | g.7585792G>A | CA362695319 | DSP | c.7201G>A (p.Gly2401Arg) c.8530G>A (p.Gly2844Arg) c.6733G>A (p.Gly2245Arg) | gnomAD v4 |
| 6 | g.7585792G>C | CA362695320 | DSP | c.7201G>C (p.Gly2401Arg) c.8530G>C (p.Gly2844Arg) c.6733G>C (p.Gly2245Arg) | |
| 6 | g.7585792G>T | CA362695321 | DSP | c.7201G>T (p.Gly2401Trp) c.8530G>T (p.Gly2844Trp) c.6733G>T (p.Gly2245Trp) | COSMIC |
| 6 | g.7585793G>A | CA362695322 | DSP | c.7202G>A (p.Gly2401Glu) c.8531G>A (p.Gly2844Glu) c.6734G>A (p.Gly2245Glu) | |
| 6 | g.7585793G>C | CA052732 | DSP | c.7202G>C (p.Gly2401Ala) c.8531G>C (p.Gly2844Ala) c.6734G>C (p.Gly2245Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585793G= | CA1608616000 | DSP | c.7202G= (p.Gly2401=) c.8531G= (p.Gly2844=) c.6734G= (p.Gly2245=) | |
| 6 | g.7585793G>T | CA007722 | DSP | c.7202G>T (p.Gly2401Val) c.8531G>T (p.Gly2844Val) c.6734G>T (p.Gly2245Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585794G>A | CA448531279 | DSP | c.7203G>A (p.Gly2401=) c.8532G>A (p.Gly2844=) c.6735G>A (p.Gly2245=) | |
| 6 | g.7585794G>C | CA448531277 | DSP | c.7203G>C (p.Gly2401=) c.8532G>C (p.Gly2844=) c.6735G>C (p.Gly2245=) | |
| 6 | g.7585794G>T | CA448531278 | DSP | c.7203G>T (p.Gly2401=) c.8532G>T (p.Gly2844=) c.6735G>T (p.Gly2245=) | gnomAD v4 |
| 6 | g.7585795T>A | CA362695323 | DSP | c.7204T>A (p.Ser2402Thr) c.8533T>A (p.Ser2845Thr) c.6736T>A (p.Ser2246Thr) | dbSNP |
| 6 | g.7585795T>C | CA362695325 | DSP | c.7204T>C (p.Ser2402Pro) c.8533T>C (p.Ser2845Pro) c.6736T>C (p.Ser2246Pro) | gnomAD v4 |
| 6 | g.7585795T>G | CA362695324 | DSP | c.7204T>G (p.Ser2402Ala) c.8533T>G (p.Ser2845Ala) c.6736T>G (p.Ser2246Ala) | |
| 6 | g.7585795T= | CA1608616006 | DSP | c.7204T= (p.Ser2402=) c.8533T= (p.Ser2845=) c.6736T= (p.Ser2246=) | |
| 6 | g.7585796C>A | CA362695326 | DSP | c.7205C>A (p.Ser2402Tyr) c.8534C>A (p.Ser2845Tyr) c.6737C>A (p.Ser2246Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585796C= | CA1608616010 | DSP | c.7205C= (p.Ser2402=) c.8534C= (p.Ser2845=) c.6737C= (p.Ser2246=) | |
| 6 | g.7585796C>G | CA362695327 | DSP | c.7205C>G (p.Ser2402Cys) c.8534C>G (p.Ser2845Cys) c.6737C>G (p.Ser2246Cys) | |
| 6 | g.7585796C>T | CA362695328 | DSP | c.7205C>T (p.Ser2402Phe) c.8534C>T (p.Ser2845Phe) c.6737C>T (p.Ser2246Phe) | |
| 6 | g.7585797C>A | CA448531280 | DSP | c.7206C>A (p.Ser2402=) c.8535C>A (p.Ser2845=) c.6738C>A (p.Ser2246=) | |
| 6 | g.7585797C= | CA1608616017 | DSP | c.7206C= (p.Ser2402=) c.8535C= (p.Ser2845=) c.6738C= (p.Ser2246=) | |
| 6 | g.7585797C>G | CA448531282 | DSP | c.7206C>G (p.Ser2402=) c.8535C>G (p.Ser2845=) c.6738C>G (p.Ser2246=) | |
| 6 | g.7585797C>T | CA448531281 | DSP | c.7206C>T (p.Ser2402=) c.8535C>T (p.Ser2845=) c.6738C>T (p.Ser2246=) | dbSNP |
| 6 | g.7585798C>A | CA448531283 | DSP | c.7207C>A (p.Arg2403=) c.8536C>A (p.Arg2846=) c.6739C>A (p.Arg2247=) | |
| 6 | g.7585798C= | CA1608616021 | DSP | c.7207C= (p.Arg2403=) c.8536C= (p.Arg2846=) c.6739C= (p.Arg2247=) | |
| 6 | g.7585798C>G | CA007730 | DSP | c.7207C>G (p.Arg2403Gly) c.8536C>G (p.Arg2846Gly) c.6739C>G (p.Arg2247Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585798C>T | CA362695329 | DSP | c.7207C>T (p.Arg2403Trp) c.8536C>T (p.Arg2846Trp) c.6739C>T (p.Arg2247Trp) | ClinVar gnomAD v4 |
| 6 | g.7585799G>A | CA052753 | DSP | c.7208G>A (p.Arg2403Gln) c.8537G>A (p.Arg2846Gln) c.6740G>A (p.Arg2247Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585799G>C | CA362695330 | DSP | c.7208G>C (p.Arg2403Pro) c.8537G>C (p.Arg2846Pro) c.6740G>C (p.Arg2247Pro) | |
| 6 | g.7585799G= | CA1608616024 | DSP | c.7208G= (p.Arg2403=) c.8537G= (p.Arg2846=) c.6740G= (p.Arg2247=) | |
| 6 | g.7585799G>T | CA362695331 | DSP | c.7208G>T (p.Arg2403Leu) c.8537G>T (p.Arg2846Leu) c.6740G>T (p.Arg2247Leu) | |
| 6 | g.7585800G>A | CA448531284 | DSP | c.7209G>A (p.Arg2403=) c.8538G>A (p.Arg2846=) c.6741G>A (p.Arg2247=) | |
| 6 | g.7585800G>C | CA448531285 | DSP | c.7209G>C (p.Arg2403=) c.8538G>C (p.Arg2846=) c.6741G>C (p.Arg2247=) | dbSNP |
| 6 | g.7585800G= | CA1608616027 | DSP | c.7209G= (p.Arg2403=) c.8538G= (p.Arg2846=) c.6741G= (p.Arg2247=) | |
| 6 | g.7585800G>T | CA448531286 | DSP | c.7209G>T (p.Arg2403=) c.8538G>T (p.Arg2846=) c.6741G>T (p.Arg2247=) | |
| 6 | g.7585801A= | CA1608616031 | DSP | c.7210A= (p.Arg2404=) c.8539A= (p.Arg2847=) c.6742A= (p.Arg2248=) | |
| 6 | g.7585801A>C | CA133978309 | DSP | c.7210A>C (p.Arg2404=) c.8539A>C (p.Arg2847=) c.6742A>C (p.Arg2248=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585801A>G | CA362695332 | DSP | c.7210A>G (p.Arg2404Gly) c.8539A>G (p.Arg2847Gly) c.6742A>G (p.Arg2248Gly) | |
| 6 | g.7585801A>T | CA362695333 | DSP | c.7210A>T (p.Arg2404Ter) c.8539A>T (p.Arg2847Ter) c.6742A>T (p.Arg2248Ter) | |
| 6 | g.7585802G>A | CA362695336 | DSP | c.7211G>A (p.Arg2404Lys) c.8540G>A (p.Arg2847Lys) c.6743G>A (p.Arg2248Lys) | dbSNP |
| 6 | g.7585802G>C | CA362695335 | DSP | c.7211G>C (p.Arg2404Thr) c.8540G>C (p.Arg2847Thr) c.6743G>C (p.Arg2248Thr) | |
| 6 | g.7585802G= | CA1608616034 | DSP | c.7211G= (p.Arg2404=) c.8540G= (p.Arg2847=) c.6743G= (p.Arg2248=) | |
| 6 | g.7585802G>T | CA362695334 | DSP | c.7211G>T (p.Arg2404Ile) c.8540G>T (p.Arg2847Ile) c.6743G>T (p.Arg2248Ile) | |
| 6 | g.7585803A>C | CA362695337 | DSP | c.7212A>C (p.Arg2404Ser) c.8541A>C (p.Arg2847Ser) c.6744A>C (p.Arg2248Ser) | |
| 6 | g.7585803A>G | CA448531287 | DSP | c.7212A>G (p.Arg2404=) c.8541A>G (p.Arg2847=) c.6744A>G (p.Arg2248=) | |
| 6 | g.7585803A>T | CA362695338 | DSP | c.7212A>T (p.Arg2404Ser) c.8541A>T (p.Arg2847Ser) c.6744A>T (p.Arg2248Ser) | |
| 6 | g.7585804G>A | CA362695339 | DSP | c.7213G>A (p.Gly2405Arg) c.8542G>A (p.Gly2848Arg) c.6745G>A (p.Gly2249Arg) | gnomAD v4 |
| 6 | g.7585804G>C | CA362695340 | DSP | c.7213G>C (p.Gly2405Arg) c.8542G>C (p.Gly2848Arg) c.6745G>C (p.Gly2249Arg) | |
| 6 | g.7585804G>T | CA362695341 | DSP | c.7213G>T (p.Gly2405Ter) c.8542G>T (p.Gly2848Ter) c.6745G>T (p.Gly2249Ter) | |
| 6 | g.7585805G>A | CA362695342 | DSP | c.7214G>A (p.Gly2405Glu) c.8543G>A (p.Gly2848Glu) c.6746G>A (p.Gly2249Glu) | gnomAD v4 COSMIC |
| 6 | g.7585805G>C | CA362695343 | DSP | c.7214G>C (p.Gly2405Ala) c.8543G>C (p.Gly2848Ala) c.6746G>C (p.Gly2249Ala) | |
| 6 | g.7585805G>T | CA362695344 | DSP | c.7214G>T (p.Gly2405Val) c.8543G>T (p.Gly2848Val) c.6746G>T (p.Gly2249Val) | |
| 6 | g.7585806A= | CA1608616041 | DSP | c.7215A= (p.Gly2405=) c.8544A= (p.Gly2848=) c.6747A= (p.Gly2249=) | |
| 6 | g.7585806A>C | CA052766 | DSP | c.7215A>C (p.Gly2405=) c.8544A>C (p.Gly2848=) c.6747A>C (p.Gly2249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585806A>G | CA448531288 | DSP | c.7215A>G (p.Gly2405=) c.8544A>G (p.Gly2848=) c.6747A>G (p.Gly2249=) | |
| 6 | g.7585806A>T | CA448531289 | DSP | c.7215A>T (p.Gly2405=) c.8544A>T (p.Gly2848=) c.6747A>T (p.Gly2249=) | ClinVar gnomAD v4 |
| 6 | g.7585807A>C | CA362695345 | DSP | c.7216A>C (p.Ser2406Arg) c.8545A>C (p.Ser2849Arg) c.6748A>C (p.Ser2250Arg) | |
| 6 | g.7585807A>G | CA362695346 | DSP | c.7216A>G (p.Ser2406Gly) c.8545A>G (p.Ser2849Gly) c.6748A>G (p.Ser2250Gly) | |
| 6 | g.7585807A>T | CA362695347 | DSP | c.7216A>T (p.Ser2406Cys) c.8545A>T (p.Ser2849Cys) c.6748A>T (p.Ser2250Cys) | |
| 6 | g.7585808G>A | CA362695350 | DSP | c.7217G>A (p.Ser2406Asn) c.8546G>A (p.Ser2849Asn) c.6749G>A (p.Ser2250Asn) | |
| 6 | g.7585808G>C | CA362695349 | DSP | c.7217G>C (p.Ser2406Thr) c.8546G>C (p.Ser2849Thr) c.6749G>C (p.Ser2250Thr) | |
| 6 | g.7585808G>T | CA362695348 | DSP | c.7217G>T (p.Ser2406Ile) c.8546G>T (p.Ser2849Ile) c.6749G>T (p.Ser2250Ile) | gnomAD v4 |
| 6 | g.7585809C>A | CA362695351 | DSP | c.7218C>A (p.Ser2406Arg) c.8547C>A (p.Ser2849Arg) c.6750C>A (p.Ser2250Arg) | |
| 6 | g.7585809C= | CA1608616046 | DSP | c.7218C= (p.Ser2406=) c.8547C= (p.Ser2849=) c.6750C= (p.Ser2250=) | |
| 6 | g.7585809C>G | CA362695352 | DSP | c.7218C>G (p.Ser2406Arg) c.8547C>G (p.Ser2849Arg) c.6750C>G (p.Ser2250Arg) | gnomAD v4 |
| 6 | g.7585809C>T | CA448531290 | DSP | c.7218C>T (p.Ser2406=) c.8547C>T (p.Ser2849=) c.6750C>T (p.Ser2250=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585810T>A | CA362695353 | DSP | c.7219T>A (p.Phe2407Ile) c.8548T>A (p.Phe2850Ile) c.6751T>A (p.Phe2251Ile) | |
| 6 | g.7585810T>C | CA362695354 | DSP | c.7219T>C (p.Phe2407Leu) c.8548T>C (p.Phe2850Leu) c.6751T>C (p.Phe2251Leu) | gnomAD v4 |
| 6 | g.7585810T>G | CA362695355 | DSP | c.7219T>G (p.Phe2407Val) c.8548T>G (p.Phe2850Val) c.6751T>G (p.Phe2251Val) | |
| 6 | g.7585811T>A | CA362695356 | DSP | c.7220T>A (p.Phe2407Tyr) c.8549T>A (p.Phe2850Tyr) c.6752T>A (p.Phe2251Tyr) | |
| 6 | g.7585811T>C | CA362695357 | DSP | c.7220T>C (p.Phe2407Ser) c.8549T>C (p.Phe2850Ser) c.6752T>C (p.Phe2251Ser) | |
| 6 | g.7585811T>G | CA362695358 | DSP | c.7220T>G (p.Phe2407Cys) c.8549T>G (p.Phe2850Cys) c.6752T>G (p.Phe2251Cys) | |
| 6 | g.7585812T>A | CA362695359 | DSP | c.7221T>A (p.Phe2407Leu) c.8550T>A (p.Phe2850Leu) c.6753T>A (p.Phe2251Leu) | |
| 6 | g.7585812T>C | CA448531291 | DSP | c.7221T>C (p.Phe2407=) c.8550T>C (p.Phe2850=) c.6753T>C (p.Phe2251=) | |
| 6 | g.7585812T>G | CA362695360 | DSP | c.7221T>G (p.Phe2407Leu) c.8550T>G (p.Phe2850Leu) c.6753T>G (p.Phe2251Leu) | |
| 6 | g.7585813G>A | CA362695361 | DSP | c.7222G>A (p.Asp2408Asn) c.8551G>A (p.Asp2851Asn) c.6754G>A (p.Asp2252Asn) | gnomAD v4 |
| 6 | g.7585813G>C | CA362695362 | DSP | c.7222G>C (p.Asp2408His) c.8551G>C (p.Asp2851His) c.6754G>C (p.Asp2252His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585813G= | CA1608616050 | DSP | c.7222G= (p.Asp2408=) c.8551G= (p.Asp2851=) c.6754G= (p.Asp2252=) | |
| 6 | g.7585813G>T | CA362695363 | DSP | c.7222G>T (p.Asp2408Tyr) c.8551G>T (p.Asp2851Tyr) c.6754G>T (p.Asp2252Tyr) | |
| 6 | g.7585814A= | CA1608616059 | DSP | c.7223A= (p.Asp2408=) c.8552A= (p.Asp2851=) c.6755A= (p.Asp2252=) | |
| 6 | g.7585814A>C | CA362695366 | DSP | c.7223A>C (p.Asp2408Ala) c.8552A>C (p.Asp2851Ala) c.6755A>C (p.Asp2252Ala) | |
| 6 | g.7585814A>G | CA362695364 | DSP | c.7223A>G (p.Asp2408Gly) c.8552A>G (p.Asp2851Gly) c.6755A>G (p.Asp2252Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585814A>T | CA362695365 | DSP | c.7223A>T (p.Asp2408Val) c.8552A>T (p.Asp2851Val) c.6755A>T (p.Asp2252Val) | |
| 6 | g.7585815C>A | CA362695367 | DSP | c.7224C>A (p.Asp2408Glu) c.8553C>A (p.Asp2851Glu) c.6756C>A (p.Asp2252Glu) | gnomAD v4 |
| 6 | g.7585815C= | CA1608616062 | DSP | c.7224C= (p.Asp2408=) c.8553C= (p.Asp2851=) c.6756C= (p.Asp2252=) | |
| 6 | g.7585815C>G | CA362695368 | DSP | c.7224C>G (p.Asp2408Glu) c.8553C>G (p.Asp2851Glu) c.6756C>G (p.Asp2252Glu) | |
| 6 | g.7585815C>T | CA448531292 | DSP | c.7224C>T (p.Asp2408=) c.8553C>T (p.Asp2851=) c.6756C>T (p.Asp2252=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585816_7585817dup | CA2825001491 | DSP | c.7225_7226dup (p.Thr2410ProfsTer?) c.8554_8555dup (p.Thr2853ProfsTer?) c.6757_6758dup (p.Thr2254ProfsTer?) | ClinVar |
| 6 | g.7585816G>A | CA362695369 | DSP | c.7225G>A (p.Ala2409Thr) c.8554G>A (p.Ala2852Thr) c.6757G>A (p.Ala2253Thr) | gnomAD v4 COSMIC |
| 6 | g.7585816G>C | CA362695370 | DSP | c.7225G>C (p.Ala2409Pro) c.8554G>C (p.Ala2852Pro) c.6757G>C (p.Ala2253Pro) | |
| 6 | g.7585816G>T | CA362695371 | DSP | c.7225G>T (p.Ala2409Ser) c.8554G>T (p.Ala2852Ser) c.6757G>T (p.Ala2253Ser) | |
| 6 | g.7585817C>A | CA362695372 | DSP | c.7226C>A (p.Ala2409Asp) c.8555C>A (p.Ala2852Asp) c.6758C>A (p.Ala2253Asp) | |
| 6 | g.7585817C>G | CA362695373 | DSP | c.7226C>G (p.Ala2409Gly) c.8555C>G (p.Ala2852Gly) c.6758C>G (p.Ala2253Gly) | |
| 6 | g.7585817C>T | CA362695374 | DSP | c.7226C>T (p.Ala2409Val) c.8555C>T (p.Ala2852Val) c.6758C>T (p.Ala2253Val) | |
| 6 | g.7585818C>A | CA448531293 | DSP | c.7227C>A (p.Ala2409=) c.8556C>A (p.Ala2852=) c.6759C>A (p.Ala2253=) | |
| 6 | g.7585818C= | CA1608616076 | DSP | c.7227C= (p.Ala2409=) c.8556C= (p.Ala2852=) c.6759C= (p.Ala2253=) | |
| 6 | g.7585818C>G | CA448531294 | DSP | c.7227C>G (p.Ala2409=) c.8556C>G (p.Ala2852=) c.6759C>G (p.Ala2253=) | |
| 6 | g.7585818C>T | CA448531295 | DSP | c.7227C>T (p.Ala2409=) c.8556C>T (p.Ala2852=) c.6759C>T (p.Ala2253=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585819A= | CA1608616080 | DSP | c.7228A= (p.Thr2410=) c.8557A= (p.Thr2853=) c.6760A= (p.Thr2254=) | |
| 6 | g.7585819A>C | CA133978316 | DSP | c.7228A>C (p.Thr2410Pro) c.8557A>C (p.Thr2853Pro) c.6760A>C (p.Thr2254Pro) | dbSNP |
| 6 | g.7585819A>G | CA362695375 | DSP | c.7228A>G (p.Thr2410Ala) c.8557A>G (p.Thr2853Ala) c.6760A>G (p.Thr2254Ala) | |
| 6 | g.7585819A>T | CA362695376 | DSP | c.7228A>T (p.Thr2410Ser) c.8557A>T (p.Thr2853Ser) c.6760A>T (p.Thr2254Ser) | gnomAD v4 |
| 6 | g.7585820C>A | CA362695379 | DSP | c.7229C>A (p.Thr2410Lys) c.8558C>A (p.Thr2853Lys) c.6761C>A (p.Thr2254Lys) | |
| 6 | g.7585820C>G | CA362695378 | DSP | c.7229C>G (p.Thr2410Arg) c.8558C>G (p.Thr2853Arg) c.6761C>G (p.Thr2254Arg) | gnomAD v4 |
| 6 | g.7585820C>T | CA362695377 | DSP | c.7229C>T (p.Thr2410Ile) c.8558C>T (p.Thr2853Ile) c.6761C>T (p.Thr2254Ile) | ClinVar |
| 6 | g.7585821A= | CA1608616088 | DSP | c.7230A= (p.Thr2410=) c.8559A= (p.Thr2853=) c.6762A= (p.Thr2254=) | |
| 6 | g.7585821A>C | CA448531296 | DSP | c.7230A>C (p.Thr2410=) c.8559A>C (p.Thr2853=) c.6762A>C (p.Thr2254=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585821A>G | CA448531297 | DSP | c.7230A>G (p.Thr2410=) c.8559A>G (p.Thr2853=) c.6762A>G (p.Thr2254=) | ClinVar dbSNP |
| 6 | g.7585821A>T | CA448531298 | DSP | c.7230A>T (p.Thr2410=) c.8559A>T (p.Thr2853=) c.6762A>T (p.Thr2254=) | |
| 6 | g.7585822G>A | CA362695380 | DSP | c.7231G>A (p.Gly2411Arg) c.8560G>A (p.Gly2854Arg) c.6763G>A (p.Gly2255Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585822G>C | CA052774 | DSP | c.7231G>C (p.Gly2411Arg) c.8560G>C (p.Gly2854Arg) c.6763G>C (p.Gly2255Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585822G= | CA1608616101 | DSP | c.7231G= (p.Gly2411=) c.8560G= (p.Gly2854=) c.6763G= (p.Gly2255=) | |
| 6 | g.7585822G>T | CA362695381 | DSP | c.7231G>T (p.Gly2411Trp) c.8560G>T (p.Gly2854Trp) c.6763G>T (p.Gly2255Trp) | |
| 6 | g.7585823G>A | CA133978331 | DSP | c.7232G>A (p.Gly2411Glu) c.8561G>A (p.Gly2854Glu) c.6764G>A (p.Gly2255Glu) | dbSNP |
| 6 | g.7585823G>C | CA362695382 | DSP | c.7232G>C (p.Gly2411Ala) c.8561G>C (p.Gly2854Ala) c.6764G>C (p.Gly2255Ala) | |
| 6 | g.7585823G= | CA1608616108 | DSP | c.7232G= (p.Gly2411=) c.8561G= (p.Gly2854=) c.6764G= (p.Gly2255=) | |
| 6 | g.7585823G>T | CA362695383 | DSP | c.7232G>T (p.Gly2411Val) c.8561G>T (p.Gly2854Val) c.6764G>T (p.Gly2255Val) | |
| 6 | g.7585824G>A | CA448531299 | DSP | c.7233G>A (p.Gly2411=) c.8562G>A (p.Gly2854=) c.6765G>A (p.Gly2255=) | |
| 6 | g.7585824G>C | CA448531300 | DSP | c.7233G>C (p.Gly2411=) c.8562G>C (p.Gly2854=) c.6765G>C (p.Gly2255=) | |
| 6 | g.7585824G>T | CA448531301 | DSP | c.7233G>T (p.Gly2411=) c.8562G>T (p.Gly2854=) c.6765G>T (p.Gly2255=) | |
| 6 | g.7585825A>C | CA362695384 | DSP | c.7234A>C (p.Asn2412His) c.8563A>C (p.Asn2855His) c.6766A>C (p.Asn2256His) | |
| 6 | g.7585825A>G | CA362695385 | DSP | c.7234A>G (p.Asn2412Asp) c.8563A>G (p.Asn2855Asp) c.6766A>G (p.Asn2256Asp) | gnomAD v4 |
| 6 | g.7585825A>T | CA362695386 | DSP | c.7234A>T (p.Asn2412Tyr) c.8563A>T (p.Asn2855Tyr) c.6766A>T (p.Asn2256Tyr) | |
| 6 | g.7585826A= | CA1608616114 | DSP | c.7235A= (p.Asn2412=) c.8564A= (p.Asn2855=) c.6767A= (p.Asn2256=) | |
| 6 | g.7585826A>C | CA362695388 | DSP | c.7235A>C (p.Asn2412Thr) c.8564A>C (p.Asn2855Thr) c.6767A>C (p.Asn2256Thr) | |
| 6 | g.7585826A>G | CA362695387 | DSP | c.7235A>G (p.Asn2412Ser) c.8564A>G (p.Asn2855Ser) c.6767A>G (p.Asn2256Ser) | |
| 6 | g.7585826A>T | CA052787 | DSP | c.7235A>T (p.Asn2412Ile) c.8564A>T (p.Asn2855Ile) c.6767A>T (p.Asn2256Ile) | dbSNP ExAC gnomAD v2 |
| 6 | g.7585827T>A | CA362695389 | DSP | c.7236T>A (p.Asn2412Lys) c.8565T>A (p.Asn2855Lys) c.6768T>A (p.Asn2256Lys) | |
| 6 | g.7585827T>C | CA448531302 | DSP | c.7236T>C (p.Asn2412=) c.8565T>C (p.Asn2855=) c.6768T>C (p.Asn2256=) | |
| 6 | g.7585827T>G | CA362695390 | DSP | c.7236T>G (p.Asn2412Lys) c.8565T>G (p.Asn2855Lys) c.6768T>G (p.Asn2256Lys) | ClinVar gnomAD v4 |
| 6 | g.7585828T>A | CA052797 | DSP | c.7237T>A (p.Ser2413Thr) c.8566T>A (p.Ser2856Thr) c.6769T>A (p.Ser2257Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7585828T>C | CA362695391 | DSP | c.7237T>C (p.Ser2413Pro) c.8566T>C (p.Ser2856Pro) c.6769T>C (p.Ser2257Pro) | |
| 6 | g.7585828T>G | CA362695392 | DSP | c.7237T>G (p.Ser2413Ala) c.8566T>G (p.Ser2856Ala) c.6769T>G (p.Ser2257Ala) | |
| 6 | g.7585828T= | CA1608616119 | DSP | c.7237T= (p.Ser2413=) c.8566T= (p.Ser2856=) c.6769T= (p.Ser2257=) | |
| 6 | g.7585829C>A | CA362695395 | DSP | c.7238C>A (p.Ser2413Tyr) c.8567C>A (p.Ser2856Tyr) c.6770C>A (p.Ser2257Tyr) | gnomAD v4 |
| 6 | g.7585829C= | CA1608616124 | DSP | c.7238C= (p.Ser2413=) c.8567C= (p.Ser2856=) c.6770C= (p.Ser2257=) | |
| 6 | g.7585829C>G | CA362695393 | DSP | c.7238C>G (p.Ser2413Cys) c.8567C>G (p.Ser2856Cys) c.6770C>G (p.Ser2257Cys) | COSMIC |
| 6 | g.7585829C>T | CA362695394 | DSP | c.7238C>T (p.Ser2413Phe) c.8567C>T (p.Ser2856Phe) c.6770C>T (p.Ser2257Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585830T>A | CA448531303 | DSP | c.7239T>A (p.Ser2413=) c.8568T>A (p.Ser2856=) c.6771T>A (p.Ser2257=) | |
| 6 | g.7585830T>C | CA448531304 | DSP | c.7239T>C (p.Ser2413=) c.8568T>C (p.Ser2856=) c.6771T>C (p.Ser2257=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585830T>G | CA448531305 | DSP | c.7239T>G (p.Ser2413=) c.8568T>G (p.Ser2856=) c.6771T>G (p.Ser2257=) | |
| 6 | g.7585830T= | CA1608616128 | DSP | c.7239T= (p.Ser2413=) c.8568T= (p.Ser2856=) c.6771T= (p.Ser2257=) | |
| 6 | g.7585839_7585850del | CA2573140826 | DSP | c.7248_7259del (p.Tyr2417_Ser2420del) c.8577_8588del (p.Tyr2860_Ser2863del) c.6780_6791del (p.Tyr2261_Ser2264del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585831T>A | CA362695396 | DSP | c.7240T>A (p.Ser2414Thr) c.8569T>A (p.Ser2857Thr) c.6772T>A (p.Ser2258Thr) | |
| 6 | g.7585831T>C | CA362695397 | DSP | c.7240T>C (p.Ser2414Pro) c.8569T>C (p.Ser2857Pro) c.6772T>C (p.Ser2258Pro) | |
| 6 | g.7585831T>G | CA362695398 | DSP | c.7240T>G (p.Ser2414Ala) c.8569T>G (p.Ser2857Ala) c.6772T>G (p.Ser2258Ala) | |
| 6 | g.7585832C>A | CA052803 | DSP | c.7241C>A (p.Ser2414Tyr) c.8570C>A (p.Ser2857Tyr) c.6773C>A (p.Ser2258Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585832C= | CA1608616143 | DSP | c.7241C= (p.Ser2414=) c.8570C= (p.Ser2857=) c.6773C= (p.Ser2258=) | |
| 6 | g.7585832C>G | CA362695399 | DSP | c.7241C>G (p.Ser2414Cys) c.8570C>G (p.Ser2857Cys) c.6773C>G (p.Ser2258Cys) | |
| 6 | g.7585832C>T | CA362695400 | DSP | c.7241C>T (p.Ser2414Phe) c.8570C>T (p.Ser2857Phe) c.6773C>T (p.Ser2258Phe) | |
| 6 | g.7585833C>A | CA448531308 | DSP | c.7242C>A (p.Ser2414=) c.8571C>A (p.Ser2857=) c.6774C>A (p.Ser2258=) | |
| 6 | g.7585833C>G | CA448531307 | DSP | c.7242C>G (p.Ser2414=) c.8571C>G (p.Ser2857=) c.6774C>G (p.Ser2258=) | |
| 6 | g.7585833C>T | CA448531306 | DSP | c.7242C>T (p.Ser2414=) c.8571C>T (p.Ser2857=) c.6774C>T (p.Ser2258=) | |
| 6 | g.7585834T>A | CA362695401 | DSP | c.7243T>A (p.Tyr2415Asn) c.8572T>A (p.Tyr2858Asn) c.6775T>A (p.Tyr2259Asn) | |
| 6 | g.7585834T>C | CA362695402 | DSP | c.7243T>C (p.Tyr2415His) c.8572T>C (p.Tyr2858His) c.6775T>C (p.Tyr2259His) | |
| 6 | g.7585834T>G | CA362695403 | DSP | c.7243T>G (p.Tyr2415Asp) c.8572T>G (p.Tyr2858Asp) c.6775T>G (p.Tyr2259Asp) | |
| 6 | g.7585835A= | CA1608616160 | DSP | c.7244A= (p.Tyr2415=) c.8573A= (p.Tyr2858=) c.6776A= (p.Tyr2259=) | |
| 6 | g.7585835A>C | CA362695404 | DSP | c.7244A>C (p.Tyr2415Ser) c.8573A>C (p.Tyr2858Ser) c.6776A>C (p.Tyr2259Ser) | |
| 6 | g.7585835A>G | CA362695405 | DSP | c.7244A>G (p.Tyr2415Cys) c.8573A>G (p.Tyr2858Cys) c.6776A>G (p.Tyr2259Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585835A>T | CA362695406 | DSP | c.7244A>T (p.Tyr2415Phe) c.8573A>T (p.Tyr2858Phe) c.6776A>T (p.Tyr2259Phe) | |
| 6 | g.7585835_7585837delinsACT | CA1608616152 | DSP | c.7244_7246delinsACT (p.Tyr2415=) c.8573_8575delinsACT (p.Tyr2858=) c.6776_6778delinsACT (p.Tyr2259=) | |
| 6 | g.7585836C>A | CA362695407 | DSP | c.7245C>A (p.Tyr2415Ter) c.8574C>A (p.Tyr2858Ter) c.6777C>A (p.Tyr2259Ter) | |
| 6 | g.7585836C>G | CA362695408 | DSP | c.7245C>G (p.Tyr2415Ter) c.8574C>G (p.Tyr2858Ter) c.6777C>G (p.Tyr2259Ter) | |
| 6 | g.7585836C>T | CA448531309 | DSP | c.7245C>T (p.Tyr2415=) c.8574C>T (p.Tyr2858=) c.6777C>T (p.Tyr2259=) | |
| 6 | g.7585838_7585839del | CA007739 | DSP | c.7247_7248del (p.Ser2416LeufsTer6) c.8576_8577del (p.Ser2859LeufsTer6) c.6779_6780del (p.Ser2260LeufsTer6) | ClinVar dbSNP |
| 6 | g.7585837T>A | CA362695411 | DSP | c.7246T>A (p.Ser2416Thr) c.8575T>A (p.Ser2859Thr) c.6778T>A (p.Ser2260Thr) | |
| 6 | g.7585837T>C | CA362695409 | DSP | c.7246T>C (p.Ser2416Pro) c.8575T>C (p.Ser2859Pro) c.6778T>C (p.Ser2260Pro) | |
| 6 | g.7585837T>G | CA362695410 | DSP | c.7246T>G (p.Ser2416Ala) c.8575T>G (p.Ser2859Ala) c.6778T>G (p.Ser2260Ala) | |
| 6 | g.7585838C>A | CA362695412 | DSP | c.7247C>A (p.Ser2416Tyr) c.8576C>A (p.Ser2859Tyr) c.6779C>A (p.Ser2260Tyr) | |
| 6 | g.7585838C= | CA1608616170 | DSP | c.7247C= (p.Ser2416=) c.8576C= (p.Ser2859=) c.6779C= (p.Ser2260=) | |
| 6 | g.7585838C>G | CA133978378 | DSP | c.7247C>G (p.Ser2416Cys) c.8576C>G (p.Ser2859Cys) c.6779C>G (p.Ser2260Cys) | dbSNP gnomAD v4 |
| 6 | g.7585838C>T | CA362695413 | DSP | c.7247C>T (p.Ser2416Phe) c.8576C>T (p.Ser2859Phe) c.6779C>T (p.Ser2260Phe) | |
| 6 | g.7585839T>A | CA448531310 | DSP | c.7248T>A (p.Ser2416=) c.8577T>A (p.Ser2859=) c.6780T>A (p.Ser2260=) | |
| 6 | g.7585839T>C | CA448531312 | DSP | c.7248T>C (p.Ser2416=) c.8577T>C (p.Ser2859=) c.6780T>C (p.Ser2260=) | |
| 6 | g.7585839T>G | CA448531311 | DSP | c.7248T>G (p.Ser2416=) c.8577T>G (p.Ser2859=) c.6780T>G (p.Ser2260=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585839T= | CA1608616178 | DSP | c.7248T= (p.Ser2416=) c.8577T= (p.Ser2859=) c.6780T= (p.Ser2260=) | |
| 6 | g.7585840T>A | CA362695414 | DSP | c.7249T>A (p.Tyr2417Asn) c.8578T>A (p.Tyr2860Asn) c.6781T>A (p.Tyr2261Asn) | |
| 6 | g.7585840T>C | CA362695415 | DSP | c.7249T>C (p.Tyr2417His) c.8578T>C (p.Tyr2860His) c.6781T>C (p.Tyr2261His) | |
| 6 | g.7585840T>G | CA362695416 | DSP | c.7249T>G (p.Tyr2417Asp) c.8578T>G (p.Tyr2860Asp) c.6781T>G (p.Tyr2261Asp) | |
| 6 | g.7585841A>C | CA362695417 | DSP | c.7250A>C (p.Tyr2417Ser) c.8579A>C (p.Tyr2860Ser) c.6782A>C (p.Tyr2261Ser) | |
| 6 | g.7585841A>G | CA362695418 | DSP | c.7250A>G (p.Tyr2417Cys) c.8579A>G (p.Tyr2860Cys) c.6782A>G (p.Tyr2261Cys) | ClinVar |
| 6 | g.7585841A>T | CA362695419 | DSP | c.7250A>T (p.Tyr2417Phe) c.8579A>T (p.Tyr2860Phe) c.6782A>T (p.Tyr2261Phe) | |
| 6 | g.7585844_7585853del | CA2516181884 | DSP | c.7253_7262del (p.Ser2418LeufsTer19) c.8582_8591del (p.Ser2861LeufsTer19) c.6785_6794del (p.Ser2262LeufsTer19) | ClinVar |
| 6 | g.7585842T>A | CA362695421 | DSP | c.7251T>A (p.Tyr2417Ter) c.8580T>A (p.Tyr2860Ter) c.6783T>A (p.Tyr2261Ter) | |
| 6 | g.7585842T>C | CA052814 | DSP | c.7251T>C (p.Tyr2417=) c.8580T>C (p.Tyr2860=) c.6783T>C (p.Tyr2261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585842T>G | CA362695420 | DSP | c.7251T>G (p.Tyr2417Ter) c.8580T>G (p.Tyr2860Ter) c.6783T>G (p.Tyr2261Ter) | |
| 6 | g.7585842T= | CA1608616190 | DSP | c.7251T= (p.Tyr2417=) c.8580T= (p.Tyr2860=) c.6783T= (p.Tyr2261=) | |
| 6 | g.7585843T>A | CA362695422 | DSP | c.7252T>A (p.Ser2418Thr) c.8581T>A (p.Ser2861Thr) c.6784T>A (p.Ser2262Thr) | |
| 6 | g.7585843T>C | CA362695423 | DSP | c.7252T>C (p.Ser2418Pro) c.8581T>C (p.Ser2861Pro) c.6784T>C (p.Ser2262Pro) | |
| 6 | g.7585843T>G | CA362695424 | DSP | c.7252T>G (p.Ser2418Ala) c.8581T>G (p.Ser2861Ala) c.6784T>G (p.Ser2262Ala) | |
| 6 | g.7585843_7585844delinsTC | CA1608616199 | DSP | c.7252_7253delinsTC (p.Ser2418=) c.8581_8582delinsTC (p.Ser2861=) c.6784_6785delinsTC (p.Ser2262=) | |
| 6 | g.7585844C>A | CA362695425 | DSP | c.7253C>A (p.Ser2418Tyr) c.8582C>A (p.Ser2861Tyr) c.6785C>A (p.Ser2262Tyr) | gnomAD v4 COSMIC |
| 6 | g.7585844C= | CA1608616204 | DSP | c.7253C= (p.Ser2418=) c.8582C= (p.Ser2861=) c.6785C= (p.Ser2262=) | |
| 6 | g.7585844C>G | CA362695426 | DSP | c.7253C>G (p.Ser2418Cys) c.8582C>G (p.Ser2861Cys) c.6785C>G (p.Ser2262Cys) | gnomAD v4 |
| 6 | g.7585844C>T | CA362695427 | DSP | c.7253C>T (p.Ser2418Phe) c.8582C>T (p.Ser2861Phe) c.6785C>T (p.Ser2262Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585845del | CA052825 | DSP | c.7254del (p.Tyr2419ThrfsTer21) c.8583del (p.Tyr2862ThrfsTer21) c.6786del (p.Tyr2263ThrfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585845C>A | CA448531313 | DSP | c.7254C>A (p.Ser2418=) c.8583C>A (p.Ser2861=) c.6786C>A (p.Ser2262=) | |
| 6 | g.7585845C= | CA1608616213 | DSP | c.7254C= (p.Ser2418=) c.8583C= (p.Ser2861=) c.6786C= (p.Ser2262=) | |
| 6 | g.7585845C>G | CA448531314 | DSP | c.7254C>G (p.Ser2418=) c.8583C>G (p.Ser2861=) c.6786C>G (p.Ser2262=) | |
| 6 | g.7585845C>T | CA052840 | DSP | c.7254C>T (p.Ser2418=) c.8583C>T (p.Ser2861=) c.6786C>T (p.Ser2262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585846T>A | CA362695428 | DSP | c.7255T>A (p.Tyr2419Asn) c.8584T>A (p.Tyr2862Asn) c.6787T>A (p.Tyr2263Asn) | |
| 6 | g.7585846T>C | CA362695429 | DSP | c.7255T>C (p.Tyr2419His) c.8584T>C (p.Tyr2862His) c.6787T>C (p.Tyr2263His) | |
| 6 | g.7585846T>G | CA362695430 | DSP | c.7255T>G (p.Tyr2419Asp) c.8584T>G (p.Tyr2862Asp) c.6787T>G (p.Tyr2263Asp) | |
| 6 | g.7585847A>C | CA362695433 | DSP | c.7256A>C (p.Tyr2419Ser) c.8585A>C (p.Tyr2862Ser) c.6788A>C (p.Tyr2263Ser) | |
| 6 | g.7585847A>G | CA362695432 | DSP | c.7256A>G (p.Tyr2419Cys) c.8585A>G (p.Tyr2862Cys) c.6788A>G (p.Tyr2263Cys) | |
| 6 | g.7585847A>T | CA362695431 | DSP | c.7256A>T (p.Tyr2419Phe) c.8585A>T (p.Tyr2862Phe) c.6788A>T (p.Tyr2263Phe) | |
| 6 | g.7585848del | CA2695206021 | DSP | c.7257del (p.Ser2420HisfsTer20) c.8586del (p.Ser2863HisfsTer20) c.6789del (p.Ser2264HisfsTer20) | |
| 6 | g.7585848C>A | CA362695435 | DSP | c.7257C>A (p.Tyr2419Ter) c.8586C>A (p.Tyr2862Ter) c.6789C>A (p.Tyr2263Ter) | |
| 6 | g.7585848C>G | CA362695434 | DSP | c.7257C>G (p.Tyr2419Ter) c.8586C>G (p.Tyr2862Ter) c.6789C>G (p.Tyr2263Ter) | |
| 6 | g.7585848C>T | CA448531315 | DSP | c.7257C>T (p.Tyr2419=) c.8586C>T (p.Tyr2862=) c.6789C>T (p.Tyr2263=) | ClinVar gnomAD v4 |
| 6 | g.7585849T>A | CA362695438 | DSP | c.7258T>A (p.Ser2420Thr) c.8587T>A (p.Ser2863Thr) c.6790T>A (p.Ser2264Thr) | |
| 6 | g.7585849T>C | CA362695436 | DSP | c.7258T>C (p.Ser2420Pro) c.8587T>C (p.Ser2863Pro) c.6790T>C (p.Ser2264Pro) | gnomAD v4 |
| 6 | g.7585849T>G | CA362695437 | DSP | c.7258T>G (p.Ser2420Ala) c.8587T>G (p.Ser2863Ala) c.6790T>G (p.Ser2264Ala) | |
| 6 | g.7585850C>A | CA362695439 | DSP | c.7259C>A (p.Ser2420Ter) c.8588C>A (p.Ser2863Ter) c.6791C>A (p.Ser2264Ter) | |
| 6 | g.7585850C= | CA1608616219 | DSP | c.7259C= (p.Ser2420=) c.8588C= (p.Ser2863=) c.6791C= (p.Ser2264=) | |
| 6 | g.7585850C>G | CA362695440 | DSP | c.7259C>G (p.Ser2420Ter) c.8588C>G (p.Ser2863Ter) c.6791C>G (p.Ser2264Ter) | |
| 6 | g.7585850C>T | CA362695441 | DSP | c.7259C>T (p.Ser2420Leu) c.8588C>T (p.Ser2863Leu) c.6791C>T (p.Ser2264Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585851A>C | CA448531316 | DSP | c.7260A>C (p.Ser2420=) c.8589A>C (p.Ser2863=) c.6792A>C (p.Ser2264=) | |
| 6 | g.7585851A>G | CA448531317 | DSP | c.7260A>G (p.Ser2420=) c.8589A>G (p.Ser2863=) c.6792A>G (p.Ser2264=) | |
| 6 | g.7585851A>T | CA448531318 | DSP | c.7260A>T (p.Ser2420=) c.8589A>T (p.Ser2863=) c.6792A>T (p.Ser2264=) | |
| 6 | g.7585852T>A | CA362695442 | DSP | c.7261T>A (p.Phe2421Ile) c.8590T>A (p.Phe2864Ile) c.6793T>A (p.Phe2265Ile) | |
| 6 | g.7585852T>C | CA052847 | DSP | c.7261T>C (p.Phe2421Leu) c.8590T>C (p.Phe2864Leu) c.6793T>C (p.Phe2265Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585852T>G | CA362695443 | DSP | c.7261T>G (p.Phe2421Val) c.8590T>G (p.Phe2864Val) c.6793T>G (p.Phe2265Val) | |
| 6 | g.7585852T= | CA1608616225 | DSP | c.7261T= (p.Phe2421=) c.8590T= (p.Phe2864=) c.6793T= (p.Phe2265=) | |
| 6 | g.7585853T>A | CA362695444 | DSP | c.7262T>A (p.Phe2421Tyr) c.8591T>A (p.Phe2864Tyr) c.6794T>A (p.Phe2265Tyr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585853T>C | CA362695445 | DSP | c.7262T>C (p.Phe2421Ser) c.8591T>C (p.Phe2864Ser) c.6794T>C (p.Phe2265Ser) | |
| 6 | g.7585853T>G | CA362695446 | DSP | c.7262T>G (p.Phe2421Cys) c.8591T>G (p.Phe2864Cys) c.6794T>G (p.Phe2265Cys) | |
| 6 | g.7585853T= | CA1608616228 | DSP | c.7262T= (p.Phe2421=) c.8591T= (p.Phe2864=) c.6794T= (p.Phe2265=) | |
| 6 | g.7585854T>A | CA362695447 | DSP | c.7263T>A (p.Phe2421Leu) c.8592T>A (p.Phe2864Leu) c.6795T>A (p.Phe2265Leu) | |
| 6 | g.7585854T>C | CA448531319 | DSP | c.7263T>C (p.Phe2421=) c.8592T>C (p.Phe2864=) c.6795T>C (p.Phe2265=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585854T>G | CA362695448 | DSP | c.7263T>G (p.Phe2421Leu) c.8592T>G (p.Phe2864Leu) c.6795T>G (p.Phe2265Leu) | |
| 6 | g.7585854T= | CA1608616232 | DSP | c.7263T= (p.Phe2421=) c.8592T= (p.Phe2864=) c.6795T= (p.Phe2265=) | |
| 6 | g.7585855A>C | CA362695449 | DSP | c.7264A>C (p.Ser2422Arg) c.8593A>C (p.Ser2865Arg) c.6796A>C (p.Ser2266Arg) | |
| 6 | g.7585855A>G | CA362695451 | DSP | c.7264A>G (p.Ser2422Gly) c.8593A>G (p.Ser2865Gly) c.6796A>G (p.Ser2266Gly) | |
| 6 | g.7585855A>T | CA362695450 | DSP | c.7264A>T (p.Ser2422Cys) c.8593A>T (p.Ser2865Cys) c.6796A>T (p.Ser2266Cys) | |
| 6 | g.7585856G>A | CA362695452 | DSP | c.7265G>A (p.Ser2422Asn) c.8594G>A (p.Ser2865Asn) c.6797G>A (p.Ser2266Asn) | |
| 6 | g.7585856G>C | CA362695453 | DSP | c.7265G>C (p.Ser2422Thr) c.8594G>C (p.Ser2865Thr) c.6797G>C (p.Ser2266Thr) | |
| 6 | g.7585856G>T | CA362695454 | DSP | c.7265G>T (p.Ser2422Ile) c.8594G>T (p.Ser2865Ile) c.6797G>T (p.Ser2266Ile) | |
| 6 | g.7585857C>A | CA362695455 | DSP | c.7266C>A (p.Ser2422Arg) c.8595C>A (p.Ser2865Arg) c.6798C>A (p.Ser2266Arg) | |
| 6 | g.7585857C= | CA1608616236 | DSP | c.7266C= (p.Ser2422=) c.8595C= (p.Ser2865=) c.6798C= (p.Ser2266=) | |
| 6 | g.7585857C>G | CA362695456 | DSP | c.7266C>G (p.Ser2422Arg) c.8595C>G (p.Ser2865Arg) c.6798C>G (p.Ser2266Arg) | dbSNP gnomAD v4 |
| 6 | g.7585857C>T | CA448531320 | DSP | c.7266C>T (p.Ser2422=) c.8595C>T (p.Ser2865=) c.6798C>T (p.Ser2266=) | gnomAD v3 gnomAD v4 |
| 6 | g.7585857_7585860delinsCAGT | CA1608616235 | DSP | c.7266_7269delinsCAGT (p.Ser2422=) c.8595_8598delinsCAGT (p.Ser2865=) c.6798_6801delinsCAGT (p.Ser2266=) | |
| 6 | g.7585858A>C | CA362695457 | DSP | c.7267A>C (p.Ser2423Arg) c.8596A>C (p.Ser2866Arg) c.6799A>C (p.Ser2267Arg) | |
| 6 | g.7585858A>G | CA362695458 | DSP | c.7267A>G (p.Ser2423Gly) c.8596A>G (p.Ser2866Gly) c.6799A>G (p.Ser2267Gly) | |
| 6 | g.7585858A>T | CA362695459 | DSP | c.7267A>T (p.Ser2423Cys) c.8596A>T (p.Ser2866Cys) c.6799A>T (p.Ser2267Cys) | gnomAD v4 |
| 6 | g.7585861_7585863del | CA828147543 | DSP | c.7270_7272del (p.Ser2424del) c.8599_8601del (p.Ser2867del) c.6802_6804del (p.Ser2268del) | ClinVar dbSNP |
| 6 | g.7585859G>A | CA362695460 | DSP | c.7268G>A (p.Ser2423Asn) c.8597G>A (p.Ser2866Asn) c.6800G>A (p.Ser2267Asn) | |
| 6 | g.7585859G>C | CA362695461 | DSP | c.7268G>C (p.Ser2423Thr) c.8597G>C (p.Ser2866Thr) c.6800G>C (p.Ser2267Thr) | |
| 6 | g.7585859G>T | CA362695462 | DSP | c.7268G>T (p.Ser2423Ile) c.8597G>T (p.Ser2866Ile) c.6800G>T (p.Ser2267Ile) | |
| 6 | g.7585860T>A | CA362695464 | DSP | c.7269T>A (p.Ser2423Arg) c.8598T>A (p.Ser2866Arg) c.6801T>A (p.Ser2267Arg) | |
| 6 | g.7585860T>C | CA133978395 | DSP | c.7269T>C (p.Ser2423=) c.8598T>C (p.Ser2866=) c.6801T>C (p.Ser2267=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585860T>G | CA362695463 | DSP | c.7269T>G (p.Ser2423Arg) c.8598T>G (p.Ser2866Arg) c.6801T>G (p.Ser2267Arg) | |
| 6 | g.7585860T= | CA1608616243 | DSP | c.7269T= (p.Ser2423=) c.8598T= (p.Ser2866=) c.6801T= (p.Ser2267=) | |
| 6 | g.7585861A>C | CA362695465 | DSP | c.7270A>C (p.Ser2424Arg) c.8599A>C (p.Ser2867Arg) c.6802A>C (p.Ser2268Arg) | |
| 6 | g.7585861A>G | CA362695467 | DSP | c.7270A>G (p.Ser2424Gly) c.8599A>G (p.Ser2867Gly) c.6802A>G (p.Ser2268Gly) | |
| 6 | g.7585861A>T | CA362695466 | DSP | c.7270A>T (p.Ser2424Cys) c.8599A>T (p.Ser2867Cys) c.6802A>T (p.Ser2268Cys) | |
| 6 | g.7585862G>A | CA362695468 | DSP | c.7271G>A (p.Ser2424Asn) c.8600G>A (p.Ser2867Asn) c.6803G>A (p.Ser2268Asn) | |
| 6 | g.7585862G>C | CA362695469 | DSP | c.7271G>C (p.Ser2424Thr) c.8600G>C (p.Ser2867Thr) c.6803G>C (p.Ser2268Thr) | |
| 6 | g.7585862G>T | CA362695470 | DSP | c.7271G>T (p.Ser2424Ile) c.8600G>T (p.Ser2867Ile) c.6803G>T (p.Ser2268Ile) | gnomAD v4 |
| 6 | g.7585863T>A | CA362695471 | DSP | c.7272T>A (p.Ser2424Arg) c.8601T>A (p.Ser2867Arg) c.6804T>A (p.Ser2268Arg) | |
| 6 | g.7585863T>C | CA448531321 | DSP | c.7272T>C (p.Ser2424=) c.8601T>C (p.Ser2867=) c.6804T>C (p.Ser2268=) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7585863T>G | CA362695472 | DSP | c.7272T>G (p.Ser2424Arg) c.8601T>G (p.Ser2867Arg) c.6804T>G (p.Ser2268Arg) | |
| 6 | g.7585863T= | CA1608616252 | DSP | c.7272T= (p.Ser2424=) c.8601T= (p.Ser2867=) c.6804T= (p.Ser2268=) | |
| 6 | g.7585864T>A | CA362695473 | DSP | c.7273T>A (p.Ser2425Thr) c.8602T>A (p.Ser2868Thr) c.6805T>A (p.Ser2269Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585864T>C | CA362695474 | DSP | c.7273T>C (p.Ser2425Pro) c.8602T>C (p.Ser2868Pro) c.6805T>C (p.Ser2269Pro) | |
| 6 | g.7585864T>G | CA362695475 | DSP | c.7273T>G (p.Ser2425Ala) c.8602T>G (p.Ser2868Ala) c.6805T>G (p.Ser2269Ala) | |
| 6 | g.7585864T= | CA1608616254 | DSP | c.7273T= (p.Ser2425=) c.8602T= (p.Ser2868=) c.6805T= (p.Ser2269=) | |
| 6 | g.7585865C>A | CA362695476 | DSP | c.7274C>A (p.Ser2425Tyr) c.8603C>A (p.Ser2868Tyr) c.6806C>A (p.Ser2269Tyr) | dbSNP |
| 6 | g.7585865C= | CA1608616260 | DSP | c.7274C= (p.Ser2425=) c.8603C= (p.Ser2868=) c.6806C= (p.Ser2269=) | |
| 6 | g.7585865C>G | CA362695477 | DSP | c.7274C>G (p.Ser2425Cys) c.8603C>G (p.Ser2868Cys) c.6806C>G (p.Ser2269Cys) | |
| 6 | g.7585865C>T | CA362695478 | DSP | c.7274C>T (p.Ser2425Phe) c.8603C>T (p.Ser2868Phe) c.6806C>T (p.Ser2269Phe) | gnomAD v4 |
| 6 | g.7585866T>A | CA448531322 | DSP | c.7275T>A (p.Ser2425=) c.8604T>A (p.Ser2868=) c.6807T>A (p.Ser2269=) | |
| 6 | g.7585866T>C | CA448531323 | DSP | c.7275T>C (p.Ser2425=) c.8604T>C (p.Ser2868=) c.6807T>C (p.Ser2269=) | |
| 6 | g.7585866T>G | CA448531324 | DSP | c.7275T>G (p.Ser2425=) c.8604T>G (p.Ser2868=) c.6807T>G (p.Ser2269=) | |
| 6 | g.7585867A= | CA1608616268 | DSP | c.7276A= (p.Ile2426=) c.8605A= (p.Ile2869=) c.6808A= (p.Ile2270=) | |
| 6 | g.7585867A>C | CA362695480 | DSP | c.7276A>C (p.Ile2426Leu) c.8605A>C (p.Ile2869Leu) c.6808A>C (p.Ile2270Leu) | gnomAD v4 |
| 6 | g.7585867A>G | CA007748 | DSP | c.7276A>G (p.Ile2426Val) c.8605A>G (p.Ile2869Val) c.6808A>G (p.Ile2270Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585867A>T | CA362695479 | DSP | c.7276A>T (p.Ile2426Phe) c.8605A>T (p.Ile2869Phe) c.6808A>T (p.Ile2270Phe) | ClinVar |
| 6 | g.7585868T>A | CA362695481 | DSP | c.7277T>A (p.Ile2426Asn) c.8606T>A (p.Ile2869Asn) c.6809T>A (p.Ile2270Asn) | |
| 6 | g.7585868T>C | CA362695482 | DSP | c.7277T>C (p.Ile2426Thr) c.8606T>C (p.Ile2869Thr) c.6809T>C (p.Ile2270Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585868T>G | CA362695483 | DSP | c.7277T>G (p.Ile2426Ser) c.8606T>G (p.Ile2869Ser) c.6809T>G (p.Ile2270Ser) | |
| 6 | g.7585868T= | CA1608616274 | DSP | c.7277T= (p.Ile2426=) c.8606T= (p.Ile2869=) c.6809T= (p.Ile2270=) | |
| 6 | g.7585869T>A | CA448531325 | DSP | c.7278T>A (p.Ile2426=) c.8607T>A (p.Ile2869=) c.6810T>A (p.Ile2270=) | |
| 6 | g.7585869T>C | CA448531326 | DSP | c.7278T>C (p.Ile2426=) c.8607T>C (p.Ile2869=) c.6810T>C (p.Ile2270=) | |
| 6 | g.7585869T>G | CA362695484 | DSP | c.7278T>G (p.Ile2426Met) c.8607T>G (p.Ile2869Met) c.6810T>G (p.Ile2270Met) | |
| 6 | g.7585870G>A | CA362695485 | DSP | c.7279G>A (p.Gly2427Arg) c.8608G>A (p.Gly2870Arg) c.6811G>A (p.Gly2271Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585870G>C | CA362695486 | DSP | c.7279G>C (p.Gly2427Arg) c.8608G>C (p.Gly2870Arg) c.6811G>C (p.Gly2271Arg) | |
| 6 | g.7585870G= | CA1608616278 | DSP | c.7279G= (p.Gly2427=) c.8608G= (p.Gly2870=) c.6811G= (p.Gly2271=) | |
| 6 | g.7585870G>T | CA362695487 | DSP | c.7279G>T (p.Gly2427Trp) c.8608G>T (p.Gly2870Trp) c.6811G>T (p.Gly2271Trp) | |
| 6 | g.7585871G>A | CA362695488 | DSP | c.7280G>A (p.Gly2427Glu) c.8609G>A (p.Gly2870Glu) c.6812G>A (p.Gly2271Glu) | COSMIC |
| 6 | g.7585871G>C | CA362695489 | DSP | c.7280G>C (p.Gly2427Ala) c.8609G>C (p.Gly2870Ala) c.6812G>C (p.Gly2271Ala) | |
| 6 | g.7585871G>T | CA362695490 | DSP | c.7280G>T (p.Gly2427Val) c.8609G>T (p.Gly2870Val) c.6812G>T (p.Gly2271Val) |