Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169259155A= | CA1306353773 | LRP2 | c.2383T= (p.Ser795=) c.1972T= (p.Ser658=) c.94T= (p.Ser32=) | |
2 | g.169259155A>C | CA349158525 | LRP2 | c.2383T>G (p.Ser795Ala) c.1972T>G (p.Ser658Ala) c.94T>G (p.Ser32Ala) | dbSNP gnomAD v4 |
2 | g.169259155A>G | CA349158526 | LRP2 | c.2383T>C (p.Ser795Pro) c.1972T>C (p.Ser658Pro) c.94T>C (p.Ser32Pro) | |
2 | g.169259155A>T | CA349158528 | LRP2 | c.2383T>A (p.Ser795Thr) c.1972T>A (p.Ser658Thr) c.94T>A (p.Ser32Thr) | |
2 | g.169259156A>C | CA349158529 | LRP2 | c.2382T>G (p.Ile794Met) c.1971T>G (p.Ile657Met) c.93T>G (p.Ile31Met) | |
2 | g.169259156A>G | CA429921125 | LRP2 | c.2382T>C (p.Ile794=) c.1971T>C (p.Ile657=) c.93T>C (p.Ile31=) | |
2 | g.169259156A>T | CA429921126 | LRP2 | c.2382T>A (p.Ile794=) c.1971T>A (p.Ile657=) c.93T>A (p.Ile31=) | |
2 | g.169259157A= | CA1306353774 | LRP2 | c.2381T= (p.Ile794=) c.1970T= (p.Ile657=) c.92T= (p.Ile31=) | |
2 | g.169259157A>C | CA349158531 | LRP2 | c.2381T>G (p.Ile794Ser) c.1970T>G (p.Ile657Ser) c.92T>G (p.Ile31Ser) | |
2 | g.169259157A>G | CA349158532 | LRP2 | c.2381T>C (p.Ile794Thr) c.1970T>C (p.Ile657Thr) c.92T>C (p.Ile31Thr) | |
2 | g.169259157A>T | CA349158533 | LRP2 | c.2381T>A (p.Ile794Asn) c.1970T>A (p.Ile657Asn) c.92T>A (p.Ile31Asn) | |
2 | g.169259157_169259158insCTGTATG | CA1306353775 | LRP2 | c.2380_2381insCATACAG (p.Ile794ThrfsTer24) c.1969_1970insCATACAG (p.Ile657ThrfsTer24) c.91_92insCATACAG (p.Ile31ThrfsTer24) | dbSNP |
2 | g.169259158T>A | CA1955311 | LRP2 | c.2380A>T (p.Ile794Phe) c.1969A>T (p.Ile657Phe) c.91A>T (p.Ile31Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259158T>C | CA349158536 | LRP2 | c.2380A>G (p.Ile794Val) c.1969A>G (p.Ile657Val) c.91A>G (p.Ile31Val) | |
2 | g.169259158T>G | CA349158538 | LRP2 | c.2380A>C (p.Ile794Leu) c.1969A>C (p.Ile657Leu) c.91A>C (p.Ile31Leu) | |
2 | g.169259158T= | CA1306353776 | LRP2 | c.2380A= (p.Ile794=) c.1969A= (p.Ile657=) c.91A= (p.Ile31=) | |
2 | g.169259159C>A | CA349158542 | LRP2 | c.2379G>T (p.Trp793Cys) c.1968G>T (p.Trp656Cys) c.90G>T (p.Trp30Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259159C= | CA1306353777 | LRP2 | c.2379G= (p.Trp793=) c.1968G= (p.Trp656=) c.90G= (p.Trp30=) | |
2 | g.169259159C>G | CA349158541 | LRP2 | c.2379G>C (p.Trp793Cys) c.1968G>C (p.Trp656Cys) c.90G>C (p.Trp30Cys) | |
2 | g.169259159C>T | CA349158539 | LRP2 | c.2379G>A (p.Trp793Ter) c.1968G>A (p.Trp656Ter) c.90G>A (p.Trp30Ter) | ClinVar |
2 | g.169259159_169259160insTTTTA | CA1306353778 | LRP2 | c.2378_2379insTAAAA (p.Trp793CysfsTer21) c.1967_1968insTAAAA (p.Trp656CysfsTer21) c.89_90insTAAAA (p.Trp30CysfsTer21) | dbSNP |
2 | g.169259160C>A | CA349158544 | LRP2 | c.2378G>T (p.Trp793Leu) c.1967G>T (p.Trp656Leu) c.89G>T (p.Trp30Leu) | |
2 | g.169259160C>G | CA349158546 | LRP2 | c.2378G>C (p.Trp793Ser) c.1967G>C (p.Trp656Ser) c.89G>C (p.Trp30Ser) | dbSNP gnomAD v4 |
2 | g.169259160C>T | CA349158547 | LRP2 | c.2378G>A (p.Trp793Ter) c.1967G>A (p.Trp656Ter) c.89G>A (p.Trp30Ter) | |
2 | g.169259161A>C | CA349158548 | LRP2 | c.2377T>G (p.Trp793Gly) c.1966T>G (p.Trp656Gly) c.88T>G (p.Trp30Gly) | |
2 | g.169259161A>G | CA349158550 | LRP2 | c.2377T>C (p.Trp793Arg) c.1966T>C (p.Trp656Arg) c.88T>C (p.Trp30Arg) | |
2 | g.169259161A>T | CA349158551 | LRP2 | c.2377T>A (p.Trp793Arg) c.1966T>A (p.Trp656Arg) c.88T>A (p.Trp30Arg) | |
2 | g.169259162A= | CA1306353779 | LRP2 | c.2376T= (p.Asp792=) c.1965T= (p.Asp655=) c.87T= (p.Asp29=) | |
2 | g.169259162A>C | CA349158553 | LRP2 | c.2376T>G (p.Asp792Glu) c.1965T>G (p.Asp655Glu) c.87T>G (p.Asp29Glu) | |
2 | g.169259162A>G | CA153566 | LRP2 | c.2376T>C (p.Asp792=) c.1965T>C (p.Asp655=) c.87T>C (p.Asp29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259162A>T | CA349158555 | LRP2 | c.2376T>A (p.Asp792Glu) c.1965T>A (p.Asp655Glu) c.87T>A (p.Asp29Glu) | |
2 | g.169259163T>A | CA349158556 | LRP2 | c.2375A>T (p.Asp792Val) c.1964A>T (p.Asp655Val) c.86A>T (p.Asp29Val) | |
2 | g.169259163T>C | CA349158558 | LRP2 | c.2375A>G (p.Asp792Gly) c.1964A>G (p.Asp655Gly) c.86A>G (p.Asp29Gly) | |
2 | g.169259163T>G | CA349158559 | LRP2 | c.2375A>C (p.Asp792Ala) c.1964A>C (p.Asp655Ala) c.86A>C (p.Asp29Ala) | |
2 | g.169259164C>A | CA349158562 | LRP2 | c.2374G>T (p.Asp792Tyr) c.1963G>T (p.Asp655Tyr) c.85G>T (p.Asp29Tyr) | |
2 | g.169259164C>G | CA349158563 | LRP2 | c.2374G>C (p.Asp792His) c.1963G>C (p.Asp655His) c.85G>C (p.Asp29His) | |
2 | g.169259164C>T | CA349158561 | LRP2 | c.2374G>A (p.Asp792Asn) c.1963G>A (p.Asp655Asn) c.85G>A (p.Asp29Asn) | |
2 | g.169259165A= | CA1306353780 | LRP2 | c.2373T= (p.Phe791=) c.1962T= (p.Phe654=) c.84T= (p.Phe28=) | |
2 | g.169259165A>C | CA349158566 | LRP2 | c.2373T>G (p.Phe791Leu) c.1962T>G (p.Phe654Leu) c.84T>G (p.Phe28Leu) | |
2 | g.169259165A>G | CA429921141 | LRP2 | c.2373T>C (p.Phe791=) c.1962T>C (p.Phe654=) c.84T>C (p.Phe28=) | dbSNP |
2 | g.169259165A>T | CA349158565 | LRP2 | c.2373T>A (p.Phe791Leu) c.1962T>A (p.Phe654Leu) c.84T>A (p.Phe28Leu) | |
2 | g.169259166A>C | CA349158568 | LRP2 | c.2372T>G (p.Phe791Cys) c.1961T>G (p.Phe654Cys) c.83T>G (p.Phe28Cys) | |
2 | g.169259166A>G | CA349158570 | LRP2 | c.2372T>C (p.Phe791Ser) c.1961T>C (p.Phe654Ser) c.83T>C (p.Phe28Ser) | |
2 | g.169259166A>T | CA349158571 | LRP2 | c.2372T>A (p.Phe791Tyr) c.1961T>A (p.Phe654Tyr) c.83T>A (p.Phe28Tyr) | |
2 | g.169259167A= | CA1306353781 | LRP2 | c.2371T= (p.Phe791=) c.1960T= (p.Phe654=) c.82T= (p.Phe28=) | |
2 | g.169259167A>C | CA349158572 | LRP2 | c.2371T>G (p.Phe791Val) c.1960T>G (p.Phe654Val) c.82T>G (p.Phe28Val) | dbSNP |
2 | g.169259167A>G | CA349158574 | LRP2 | c.2371T>C (p.Phe791Leu) c.1960T>C (p.Phe654Leu) c.82T>C (p.Phe28Leu) | |
2 | g.169259167A>T | CA349158575 | LRP2 | c.2371T>A (p.Phe791Ile) c.1960T>A (p.Phe654Ile) c.82T>A (p.Phe28Ile) | |
2 | g.169259168A= | CA1306353782 | LRP2 | c.2370T= (p.Ala790=) c.1959T= (p.Ala653=) c.81T= (p.Ala27=) | |
2 | g.169259168A>C | CA429921143 | LRP2 | c.2370T>G (p.Ala790=) c.1959T>G (p.Ala653=) c.81T>G (p.Ala27=) | |
2 | g.169259168A>G | CA59921102 | LRP2 | c.2370T>C (p.Ala790=) c.1959T>C (p.Ala653=) c.81T>C (p.Ala27=) | dbSNP |
2 | g.169259168A>T | CA429921142 | LRP2 | c.2370T>A (p.Ala790=) c.1959T>A (p.Ala653=) c.81T>A (p.Ala27=) | |
2 | g.169259169G>A | CA349158576 | LRP2 | c.2369C>T (p.Ala790Val) c.1958C>T (p.Ala653Val) c.80C>T (p.Ala27Val) | |
2 | g.169259169G>C | CA1955312 | LRP2 | c.2369C>G (p.Ala790Gly) c.1958C>G (p.Ala653Gly) c.80C>G (p.Ala27Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259169G= | CA1306353783 | LRP2 | c.2369C= (p.Ala790=) c.1958C= (p.Ala653=) c.80C= (p.Ala27=) | |
2 | g.169259169G>T | CA349158578 | LRP2 | c.2369C>A (p.Ala790Asp) c.1958C>A (p.Ala653Asp) c.80C>A (p.Ala27Asp) | |
2 | g.169259170C>A | CA349158579 | LRP2 | c.2368G>T (p.Ala790Ser) c.1957G>T (p.Ala653Ser) c.79G>T (p.Ala27Ser) | |
2 | g.169259170C= | CA1306353784 | LRP2 | c.2368G= (p.Ala790=) c.1957G= (p.Ala653=) c.79G= (p.Ala27=) | |
2 | g.169259170C>G | CA349158580 | LRP2 | c.2368G>C (p.Ala790Pro) c.1957G>C (p.Ala653Pro) c.79G>C (p.Ala27Pro) | |
2 | g.169259170C>T | CA59921105 | LRP2 | c.2368G>A (p.Ala790Thr) c.1957G>A (p.Ala653Thr) c.79G>A (p.Ala27Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259171C>A | CA349158584 | LRP2 | c.2367G>T (p.Leu789Phe) c.1956G>T (p.Leu652Phe) c.78G>T (p.Leu26Phe) | COSMIC |
2 | g.169259171C>G | CA349158582 | LRP2 | c.2367G>C (p.Leu789Phe) c.1956G>C (p.Leu652Phe) c.78G>C (p.Leu26Phe) | |
2 | g.169259171C>T | CA429921144 | LRP2 | c.2367G>A (p.Leu789=) c.1956G>A (p.Leu652=) c.78G>A (p.Leu26=) | |
2 | g.169259172A>C | CA349158585 | LRP2 | c.2366T>G (p.Leu789Trp) c.1955T>G (p.Leu652Trp) c.77T>G (p.Leu26Trp) | |
2 | g.169259172A>G | CA349158587 | LRP2 | c.2366T>C (p.Leu789Ser) c.1955T>C (p.Leu652Ser) c.77T>C (p.Leu26Ser) | |
2 | g.169259172A>T | CA349158588 | LRP2 | c.2366T>A (p.Leu789Ter) c.1955T>A (p.Leu652Ter) c.77T>A (p.Leu26Ter) | |
2 | g.169259173A>C | CA349158590 | LRP2 | c.2365T>G (p.Leu789Val) c.1954T>G (p.Leu652Val) c.76T>G (p.Leu26Val) | |
2 | g.169259173A>G | CA429921145 | LRP2 | c.2365T>C (p.Leu789=) c.1954T>C (p.Leu652=) c.76T>C (p.Leu26=) | |
2 | g.169259173A>T | CA349158591 | LRP2 | c.2365T>A (p.Leu789Met) c.1954T>A (p.Leu652Met) c.76T>A (p.Leu26Met) | |
2 | g.169259174A>C | CA349158593 | LRP2 | c.2364T>G (p.Ser788Arg) c.1953T>G (p.Ser651Arg) c.75T>G (p.Ser25Arg) | |
2 | g.169259174A>G | CA429921146 | LRP2 | c.2364T>C (p.Ser788=) c.1953T>C (p.Ser651=) c.75T>C (p.Ser25=) | gnomAD v4 |
2 | g.169259174A>T | CA349158595 | LRP2 | c.2364T>A (p.Ser788Arg) c.1953T>A (p.Ser651Arg) c.75T>A (p.Ser25Arg) | |
2 | g.169259175C>A | CA349158597 | LRP2 | c.2363G>T (p.Ser788Ile) c.1952G>T (p.Ser651Ile) c.74G>T (p.Ser25Ile) | |
2 | g.169259175C>G | CA349158598 | LRP2 | c.2363G>C (p.Ser788Thr) c.1952G>C (p.Ser651Thr) c.74G>C (p.Ser25Thr) | gnomAD v4 |
2 | g.169259175C>T | CA349158599 | LRP2 | c.2363G>A (p.Ser788Asn) c.1952G>A (p.Ser651Asn) c.74G>A (p.Ser25Asn) | gnomAD v4 |
2 | g.169259176T>A | CA349158601 | LRP2 | c.2362A>T (p.Ser788Cys) c.1951A>T (p.Ser651Cys) c.73A>T (p.Ser25Cys) | |
2 | g.169259176T>C | CA349158603 | LRP2 | c.2362A>G (p.Ser788Gly) c.1951A>G (p.Ser651Gly) c.73A>G (p.Ser25Gly) | |
2 | g.169259176T>G | CA349158604 | LRP2 | c.2362A>C (p.Ser788Arg) c.1951A>C (p.Ser651Arg) c.73A>C (p.Ser25Arg) | |
2 | g.169259177T>A | CA349158605 | LRP2 | c.2361A>T (p.Glu787Asp) c.1950A>T (p.Glu650Asp) c.72A>T (p.Glu24Asp) | |
2 | g.169259177T>C | CA429921147 | LRP2 | c.2361A>G (p.Glu787=) c.1950A>G (p.Glu650=) c.72A>G (p.Glu24=) | |
2 | g.169259177T>G | CA349158607 | LRP2 | c.2361A>C (p.Glu787Asp) c.1950A>C (p.Glu650Asp) c.72A>C (p.Glu24Asp) | |
2 | g.169259178T>A | CA349158609 | LRP2 | c.2360A>T (p.Glu787Val) c.1949A>T (p.Glu650Val) c.71A>T (p.Glu24Val) | |
2 | g.169259178T>C | CA349158610 | LRP2 | c.2360A>G (p.Glu787Gly) c.1949A>G (p.Glu650Gly) c.71A>G (p.Glu24Gly) | |
2 | g.169259178T>G | CA349158612 | LRP2 | c.2360A>C (p.Glu787Ala) c.1949A>C (p.Glu650Ala) c.71A>C (p.Glu24Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259178T= | CA1306353785 | LRP2 | c.2360A= (p.Glu787=) c.1949A= (p.Glu650=) c.71A= (p.Glu24=) | |
2 | g.169259179C>A | CA349158613 | LRP2 | c.2359G>T (p.Glu787Ter) c.1948G>T (p.Glu650Ter) c.70G>T (p.Glu24Ter) | ClinVar |
2 | g.169259179C>G | CA349158616 | LRP2 | c.2359G>C (p.Glu787Gln) c.1948G>C (p.Glu650Gln) c.70G>C (p.Glu24Gln) | |
2 | g.169259179C>T | CA349158618 | LRP2 | c.2359G>A (p.Glu787Lys) c.1948G>A (p.Glu650Lys) c.70G>A (p.Glu24Lys) | gnomAD v4 |
2 | g.169259180A>C | CA429921149 | LRP2 | c.2358T>G (p.Val786=) c.1947T>G (p.Val649=) c.69T>G (p.Val23=) | |
2 | g.169259180A>G | CA429921150 | LRP2 | c.2358T>C (p.Val786=) c.1947T>C (p.Val649=) c.69T>C (p.Val23=) | |
2 | g.169259180A>T | CA429921151 | LRP2 | c.2358T>A (p.Val786=) c.1947T>A (p.Val649=) c.69T>A (p.Val23=) | |
2 | g.169259181A>C | CA349158623 | LRP2 | c.2357T>G (p.Val786Gly) c.1946T>G (p.Val649Gly) c.68T>G (p.Val23Gly) | |
2 | g.169259181A>G | CA349158620 | LRP2 | c.2357T>C (p.Val786Ala) c.1946T>C (p.Val649Ala) c.68T>C (p.Val23Ala) | |
2 | g.169259181A>T | CA349158622 | LRP2 | c.2357T>A (p.Val786Asp) c.1946T>A (p.Val649Asp) c.68T>A (p.Val23Asp) | |
2 | g.169259182C>A | CA349158625 | LRP2 | c.2356G>T (p.Val786Phe) c.1945G>T (p.Val649Phe) c.67G>T (p.Val23Phe) | |
2 | g.169259182C= | CA1306353786 | LRP2 | c.2356G= (p.Val786=) c.1945G= (p.Val649=) c.67G= (p.Val23=) | |
2 | g.169259182C>G | CA349158627 | LRP2 | c.2356G>C (p.Val786Leu) c.1945G>C (p.Val649Leu) c.67G>C (p.Val23Leu) | |
2 | g.169259182C>T | CA349158628 | LRP2 | c.2356G>A (p.Val786Ile) c.1945G>A (p.Val649Ile) c.67G>A (p.Val23Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259183A= | CA1306353787 | LRP2 | c.2355T= (p.Asn785=) c.1944T= (p.Asn648=) c.66T= (p.Asn22=) | |
2 | g.169259183A>C | CA349158630 | LRP2 | c.2355T>G (p.Asn785Lys) c.1944T>G (p.Asn648Lys) c.66T>G (p.Asn22Lys) | |
2 | g.169259183A>G | CA429921152 | LRP2 | c.2355T>C (p.Asn785=) c.1944T>C (p.Asn648=) c.66T>C (p.Asn22=) | dbSNP gnomAD v4 |
2 | g.169259183A>T | CA349158632 | LRP2 | c.2355T>A (p.Asn785Lys) c.1944T>A (p.Asn648Lys) c.66T>A (p.Asn22Lys) | |
2 | g.169259184T>A | CA349158634 | LRP2 | c.2354A>T (p.Asn785Ile) c.1943A>T (p.Asn648Ile) c.65A>T (p.Asn22Ile) | |
2 | g.169259184T>C | CA349158638 | LRP2 | c.2354A>G (p.Asn785Ser) c.1943A>G (p.Asn648Ser) c.65A>G (p.Asn22Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259184T>G | CA349158636 | LRP2 | c.2354A>C (p.Asn785Thr) c.1943A>C (p.Asn648Thr) c.65A>C (p.Asn22Thr) | |
2 | g.169259184T= | CA1306353788 | LRP2 | c.2354A= (p.Asn785=) c.1943A= (p.Asn648=) c.65A= (p.Asn22=) | |
2 | g.169259185T>A | CA349158639 | LRP2 | c.2353A>T (p.Asn785Tyr) c.1942A>T (p.Asn648Tyr) c.64A>T (p.Asn22Tyr) | dbSNP gnomAD v4 |
2 | g.169259185T>C | CA349158641 | LRP2 | c.2353A>G (p.Asn785Asp) c.1942A>G (p.Asn648Asp) c.64A>G (p.Asn22Asp) | |
2 | g.169259185T>G | CA349158642 | LRP2 | c.2353A>C (p.Asn785His) c.1942A>C (p.Asn648His) c.64A>C (p.Asn22His) | |
2 | g.169259185T= | CA1306353789 | LRP2 | c.2353A= (p.Asn785=) c.1942A= (p.Asn648=) c.64A= (p.Asn22=) | |
2 | g.169259186T>A | CA349158643 | LRP2 | c.2352A>T (p.Glu784Asp) c.1941A>T (p.Glu647Asp) c.63A>T (p.Glu21Asp) | |
2 | g.169259186T>C | CA429921156 | LRP2 | c.2352A>G (p.Glu784=) c.1941A>G (p.Glu647=) c.63A>G (p.Glu21=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259186T>G | CA349158644 | LRP2 | c.2352A>C (p.Glu784Asp) c.1941A>C (p.Glu647Asp) c.63A>C (p.Glu21Asp) | |
2 | g.169259186T= | CA1306353790 | LRP2 | c.2352A= (p.Glu784=) c.1941A= (p.Glu647=) c.63A= (p.Glu21=) | |
2 | g.169259187T>A | CA349158645 | LRP2 | c.2351A>T (p.Glu784Val) c.1940A>T (p.Glu647Val) c.62A>T (p.Glu21Val) | |
2 | g.169259187T>C | CA349158652 | LRP2 | c.2351A>G (p.Glu784Gly) c.1940A>G (p.Glu647Gly) c.62A>G (p.Glu21Gly) | |
2 | g.169259187T>G | CA349158653 | LRP2 | c.2351A>C (p.Glu784Ala) c.1940A>C (p.Glu647Ala) c.62A>C (p.Glu21Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259187T= | CA1306353791 | LRP2 | c.2351A= (p.Glu784=) c.1940A= (p.Glu647=) c.62A= (p.Glu21=) | |
2 | g.169259188C>A | CA349158655 | LRP2 | c.2350G>T (p.Glu784Ter) c.1939G>T (p.Glu647Ter) c.61G>T (p.Glu21Ter) | gnomAD v4 |
2 | g.169259188C>G | CA349158656 | LRP2 | c.2350G>C (p.Glu784Gln) c.1939G>C (p.Glu647Gln) c.61G>C (p.Glu21Gln) | |
2 | g.169259188C>T | CA349158657 | LRP2 | c.2350G>A (p.Glu784Lys) c.1939G>A (p.Glu647Lys) c.61G>A (p.Glu21Lys) | COSMIC |
2 | g.169259189C>A | CA429921157 | LRP2 | c.2349G>T (p.Val783=) c.1938G>T (p.Val646=) c.60G>T (p.Val20=) | |
2 | g.169259189C= | CA1306353792 | LRP2 | c.2349G= (p.Val783=) c.1938G= (p.Val646=) c.60G= (p.Val20=) | |
2 | g.169259189C>G | CA429921158 | LRP2 | c.2349G>C (p.Val783=) c.1938G>C (p.Val646=) c.60G>C (p.Val20=) | |
2 | g.169259189C>T | CA1955313 | LRP2 | c.2349G>A (p.Val783=) c.1938G>A (p.Val646=) c.60G>A (p.Val20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259190A= | CA1306353793 | LRP2 | c.2348T= (p.Val783=) c.1937T= (p.Val646=) c.59T= (p.Val20=) | |
2 | g.169259190A>C | CA349158661 | LRP2 | c.2348T>G (p.Val783Gly) c.1937T>G (p.Val646Gly) c.59T>G (p.Val20Gly) | dbSNP |
2 | g.169259190A>G | CA349158663 | LRP2 | c.2348T>C (p.Val783Ala) c.1937T>C (p.Val646Ala) c.59T>C (p.Val20Ala) | ClinVar dbSNP |
2 | g.169259190A>T | CA349158659 | LRP2 | c.2348T>A (p.Val783Glu) c.1937T>A (p.Val646Glu) c.59T>A (p.Val20Glu) | gnomAD v4 |
2 | g.169259191C>A | CA349158666 | LRP2 | c.2347G>T (p.Val783Leu) c.1936G>T (p.Val646Leu) c.58G>T (p.Val20Leu) | |
2 | g.169259191C>G | CA349158664 | LRP2 | c.2347G>C (p.Val783Leu) c.1936G>C (p.Val646Leu) c.58G>C (p.Val20Leu) | |
2 | g.169259191C>T | CA349158667 | LRP2 | c.2347G>A (p.Val783Met) c.1936G>A (p.Val646Met) c.58G>A (p.Val20Met) | |
2 | g.169259192C>A | CA349158669 | LRP2 | c.2346G>T (p.Arg782Ser) c.1935G>T (p.Arg645Ser) c.57G>T (p.Arg19Ser) | gnomAD v4 |
2 | g.169259192C>G | CA349158670 | LRP2 | c.2346G>C (p.Arg782Ser) c.1935G>C (p.Arg645Ser) c.57G>C (p.Arg19Ser) | |
2 | g.169259192C>T | CA429921160 | LRP2 | c.2346G>A (p.Arg782=) c.1935G>A (p.Arg645=) c.57G>A (p.Arg19=) | |
2 | g.169259193C>A | CA349158673 | LRP2 | c.2345G>T (p.Arg782Met) c.1934G>T (p.Arg645Met) c.56G>T (p.Arg19Met) | |
2 | g.169259193C>G | CA349158674 | LRP2 | c.2345G>C (p.Arg782Thr) c.1934G>C (p.Arg645Thr) c.56G>C (p.Arg19Thr) | gnomAD v4 |
2 | g.169259193C>T | CA349158675 | LRP2 | c.2345G>A (p.Arg782Lys) c.1934G>A (p.Arg645Lys) c.56G>A (p.Arg19Lys) | |
2 | g.169259193_169259194del | CA2753102782 | LRP2 | c.2344_2345del (p.Arg782GlyfsTer5) c.1933_1934del (p.Arg645GlyfsTer5) c.55_56del (p.Arg19GlyfsTer5) | |
2 | g.169259194T>A | CA349158677 | LRP2 | c.2344A>T (p.Arg782Trp) c.1933A>T (p.Arg645Trp) c.55A>T (p.Arg19Trp) | |
2 | g.169259194T>C | CA349158679 | LRP2 | c.2344A>G (p.Arg782Gly) c.1933A>G (p.Arg645Gly) c.55A>G (p.Arg19Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.169259194T>G | CA429921161 | LRP2 | c.2344A>C (p.Arg782=) c.1933A>C (p.Arg645=) c.55A>C (p.Arg19=) | |
2 | g.169259195G>A | CA429921163 | LRP2 | c.2343C>T (p.Asn781=) c.1932C>T (p.Asn644=) c.54C>T (p.Asn18=) | |
2 | g.169259195G>C | CA349158680 | LRP2 | c.2343C>G (p.Asn781Lys) c.1932C>G (p.Asn644Lys) c.54C>G (p.Asn18Lys) | |
2 | g.169259195G>T | CA349158682 | LRP2 | c.2343C>A (p.Asn781Lys) c.1932C>A (p.Asn644Lys) c.54C>A (p.Asn18Lys) | |
2 | g.169259196T>A | CA349158684 | LRP2 | c.2342A>T (p.Asn781Ile) c.1931A>T (p.Asn644Ile) c.53A>T (p.Asn18Ile) | |
2 | g.169259196T>C | CA1955314 | LRP2 | c.2342A>G (p.Asn781Ser) c.1931A>G (p.Asn644Ser) c.53A>G (p.Asn18Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259196T>G | CA349158685 | LRP2 | c.2342A>C (p.Asn781Thr) c.1931A>C (p.Asn644Thr) c.53A>C (p.Asn18Thr) | |
2 | g.169259196T= | CA1306353794 | LRP2 | c.2342A= (p.Asn781=) c.1931A= (p.Asn644=) c.53A= (p.Asn18=) | |
2 | g.169259197T>A | CA349158690 | LRP2 | c.2341A>T (p.Asn781Tyr) c.1930A>T (p.Asn644Tyr) c.52A>T (p.Asn18Tyr) | |
2 | g.169259197T>C | CA349158687 | LRP2 | c.2341A>G (p.Asn781Asp) c.1930A>G (p.Asn644Asp) c.52A>G (p.Asn18Asp) | gnomAD v4 |
2 | g.169259197T>G | CA349158689 | LRP2 | c.2341A>C (p.Asn781His) c.1930A>C (p.Asn644His) c.52A>C (p.Asn18His) | |
2 | g.169259198A>C | CA429921164 | LRP2 | c.2340T>G (p.Ala780=) c.1929T>G (p.Ala643=) c.51T>G (p.Ala17=) | |
2 | g.169259198A>G | CA429921165 | LRP2 | c.2340T>C (p.Ala780=) c.1929T>C (p.Ala643=) c.51T>C (p.Ala17=) | ClinVar |
2 | g.169259198A>T | CA429921166 | LRP2 | c.2340T>A (p.Ala780=) c.1929T>A (p.Ala643=) c.51T>A (p.Ala17=) | |
2 | g.169259199G>A | CA349158692 | LRP2 | c.2339C>T (p.Ala780Val) c.1928C>T (p.Ala643Val) c.50C>T (p.Ala17Val) | |
2 | g.169259199G>C | CA349158693 | LRP2 | c.2339C>G (p.Ala780Gly) c.1928C>G (p.Ala643Gly) c.50C>G (p.Ala17Gly) | |
2 | g.169259199G>T | CA349158695 | LRP2 | c.2339C>A (p.Ala780Asp) c.1928C>A (p.Ala643Asp) c.50C>A (p.Ala17Asp) | |
2 | g.169259200C>A | CA349158697 | LRP2 | c.2338G>T (p.Ala780Ser) c.1927G>T (p.Ala643Ser) c.49G>T (p.Ala17Ser) | |
2 | g.169259200C>G | CA349158699 | LRP2 | c.2338G>C (p.Ala780Pro) c.1927G>C (p.Ala643Pro) c.49G>C (p.Ala17Pro) | |
2 | g.169259200C>T | CA349158701 | LRP2 | c.2338G>A (p.Ala780Thr) c.1927G>A (p.Ala643Thr) c.49G>A (p.Ala17Thr) | COSMIC |
2 | g.169259201T>A | CA429921168 | LRP2 | c.2337A>T (p.Ala779=) c.1926A>T (p.Ala642=) c.48A>T (p.Ala16=) | |
2 | g.169259201T>C | CA429921169 | LRP2 | c.2337A>G (p.Ala779=) c.1926A>G (p.Ala642=) c.48A>G (p.Ala16=) | |
2 | g.169259201T>G | CA429921170 | LRP2 | c.2337A>C (p.Ala779=) c.1926A>C (p.Ala642=) c.48A>C (p.Ala16=) | COSMIC |
2 | g.169259202G>A | CA349158703 | LRP2 | c.2336C>T (p.Ala779Val) c.1925C>T (p.Ala642Val) c.47C>T (p.Ala16Val) | |
2 | g.169259202G>C | CA349158705 | LRP2 | c.2336C>G (p.Ala779Gly) c.1925C>G (p.Ala642Gly) c.47C>G (p.Ala16Gly) | |
2 | g.169259202G>T | CA349158706 | LRP2 | c.2336C>A (p.Ala779Glu) c.1925C>A (p.Ala642Glu) c.47C>A (p.Ala16Glu) | |
2 | g.169259203C>A | CA349158708 | LRP2 | c.2335G>T (p.Ala779Ser) c.1924G>T (p.Ala642Ser) c.46G>T (p.Ala16Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259203C= | CA1306353795 | LRP2 | c.2335G= (p.Ala779=) c.1924G= (p.Ala642=) c.46G= (p.Ala16=) | |
2 | g.169259203C>G | CA349158710 | LRP2 | c.2335G>C (p.Ala779Pro) c.1924G>C (p.Ala642Pro) c.46G>C (p.Ala16Pro) | |
2 | g.169259203C>T | CA1955315 | LRP2 | c.2335G>A (p.Ala779Thr) c.1924G>A (p.Ala642Thr) c.46G>A (p.Ala16Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259204G>A | CA1955316 | LRP2 | c.2334C>T (p.Leu778=) c.1923C>T (p.Leu641=) c.45C>T (p.Leu15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259204G>C | CA429921174 | LRP2 | c.2334C>G (p.Leu778=) c.1923C>G (p.Leu641=) c.45C>G (p.Leu15=) | |
2 | g.169259204G= | CA1306353796 | LRP2 | c.2334C= (p.Leu778=) c.1923C= (p.Leu641=) c.45C= (p.Leu15=) | |
2 | g.169259204G>T | CA429921172 | LRP2 | c.2334C>A (p.Leu778=) c.1923C>A (p.Leu641=) c.45C>A (p.Leu15=) | gnomAD v4 |
2 | g.169259205A>C | CA349158718 | LRP2 | c.2333T>G (p.Leu778Arg) c.1922T>G (p.Leu641Arg) c.44T>G (p.Leu15Arg) | |
2 | g.169259205A>G | CA349158714 | LRP2 | c.2333T>C (p.Leu778Pro) c.1922T>C (p.Leu641Pro) c.44T>C (p.Leu15Pro) | |
2 | g.169259205A>T | CA349158716 | LRP2 | c.2333T>A (p.Leu778His) c.1922T>A (p.Leu641His) c.44T>A (p.Leu15His) | |
2 | g.169259206G>A | CA349158720 | LRP2 | c.2332C>T (p.Leu778Phe) c.1921C>T (p.Leu641Phe) c.43C>T (p.Leu15Phe) | dbSNP |
2 | g.169259206G>C | CA349158721 | LRP2 | c.2332C>G (p.Leu778Val) c.1921C>G (p.Leu641Val) c.43C>G (p.Leu15Val) | |
2 | g.169259206G= | CA1306353797 | LRP2 | c.2332C= (p.Leu778=) c.1921C= (p.Leu641=) c.43C= (p.Leu15=) | |
2 | g.169259206G>T | CA349158722 | LRP2 | c.2332C>A (p.Leu778Ile) c.1921C>A (p.Leu641Ile) c.43C>A (p.Leu15Ile) | |
2 | g.169259207A>C | CA349158724 | LRP2 | c.2331T>G (p.Ile777Met) c.1920T>G (p.Ile640Met) c.42T>G (p.Ile14Met) | |
2 | g.169259207A>G | CA429921177 | LRP2 | c.2331T>C (p.Ile777=) c.1920T>C (p.Ile640=) c.42T>C (p.Ile14=) | |
2 | g.169259207A>T | CA429921176 | LRP2 | c.2331T>A (p.Ile777=) c.1920T>A (p.Ile640=) c.42T>A (p.Ile14=) | |
2 | g.169259208A= | CA1306353798 | LRP2 | c.2330T= (p.Ile777=) c.1919T= (p.Ile640=) c.41T= (p.Ile14=) | |
2 | g.169259208A>C | CA349158726 | LRP2 | c.2330T>G (p.Ile777Ser) c.1919T>G (p.Ile640Ser) c.41T>G (p.Ile14Ser) | |
2 | g.169259208A>G | CA349158727 | LRP2 | c.2330T>C (p.Ile777Thr) c.1919T>C (p.Ile640Thr) c.41T>C (p.Ile14Thr) | dbSNP gnomAD v2 |
2 | g.169259208A>T | CA349158729 | LRP2 | c.2330T>A (p.Ile777Asn) c.1919T>A (p.Ile640Asn) c.41T>A (p.Ile14Asn) | |
2 | g.169259209T>A | CA349158731 | LRP2 | c.2329A>T (p.Ile777Phe) c.1918A>T (p.Ile640Phe) c.40A>T (p.Ile14Phe) | |
2 | g.169259209T>C | CA349158733 | LRP2 | c.2329A>G (p.Ile777Val) c.1918A>G (p.Ile640Val) c.40A>G (p.Ile14Val) | |
2 | g.169259209T>G | CA349158735 | LRP2 | c.2329A>C (p.Ile777Leu) c.1918A>C (p.Ile640Leu) c.40A>C (p.Ile14Leu) | |
2 | g.169259210T>A | CA349158740 | LRP2 | c.2328A>T (p.Glu776Asp) c.1917A>T (p.Glu639Asp) c.39A>T (p.Glu13Asp) | |
2 | g.169259210T>C | CA1955317 | LRP2 | c.2328A>G (p.Glu776=) c.1917A>G (p.Glu639=) c.39A>G (p.Glu13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259210T>G | CA349158737 | LRP2 | c.2328A>C (p.Glu776Asp) c.1917A>C (p.Glu639Asp) c.39A>C (p.Glu13Asp) | |
2 | g.169259210T= | CA1306353799 | LRP2 | c.2328A= (p.Glu776=) c.1917A= (p.Glu639=) c.39A= (p.Glu13=) | |
2 | g.169259211T>A | CA349158742 | LRP2 | c.2327A>T (p.Glu776Val) c.1916A>T (p.Glu639Val) c.38A>T (p.Glu13Val) | |
2 | g.169259211T>C | CA349158745 | LRP2 | c.2327A>G (p.Glu776Gly) c.1916A>G (p.Glu639Gly) c.38A>G (p.Glu13Gly) | |
2 | g.169259211T>G | CA349158746 | LRP2 | c.2327A>C (p.Glu776Ala) c.1916A>C (p.Glu639Ala) c.38A>C (p.Glu13Ala) | |
2 | g.169259212C>A | CA349158748 | LRP2 | c.2326G>T (p.Glu776Ter) c.1915G>T (p.Glu639Ter) c.37G>T (p.Glu13Ter) | COSMIC |
2 | g.169259212C>G | CA349158751 | LRP2 | c.2326G>C (p.Glu776Gln) c.1915G>C (p.Glu639Gln) c.37G>C (p.Glu13Gln) | |
2 | g.169259212C>T | CA349158752 | LRP2 | c.2326G>A (p.Glu776Lys) c.1915G>A (p.Glu639Lys) c.37G>A (p.Glu13Lys) | |
2 | g.169259213T>A | CA349158755 | LRP2 | c.2325A>T (p.Arg775Ser) c.1914A>T (p.Arg638Ser) c.36A>T (p.Arg12Ser) | |
2 | g.169259213T>C | CA429921179 | LRP2 | c.2325A>G (p.Arg775=) c.1914A>G (p.Arg638=) c.36A>G (p.Arg12=) | |
2 | g.169259213T>G | CA349158757 | LRP2 | c.2325A>C (p.Arg775Ser) c.1914A>C (p.Arg638Ser) c.36A>C (p.Arg12Ser) | |
2 | g.169259214C>A | CA349158759 | LRP2 | c.2324G>T (p.Arg775Ile) c.1913G>T (p.Arg638Ile) c.35G>T (p.Arg12Ile) | |
2 | g.169259214C>G | CA349158762 | LRP2 | c.2324G>C (p.Arg775Thr) c.1913G>C (p.Arg638Thr) c.35G>C (p.Arg12Thr) | |
2 | g.169259214C>T | CA349158765 | LRP2 | c.2324G>A (p.Arg775Lys) c.1913G>A (p.Arg638Lys) c.35G>A (p.Arg12Lys) | |
2 | g.169259215T>A | CA349158767 | LRP2 | c.2323A>T (p.Arg775Ter) c.1912A>T (p.Arg638Ter) c.34A>T (p.Arg12Ter) | |
2 | g.169259215T>C | CA349158770 | LRP2 | c.2323A>G (p.Arg775Gly) c.1912A>G (p.Arg638Gly) c.34A>G (p.Arg12Gly) | |
2 | g.169259215T>G | CA429921181 | LRP2 | c.2323A>C (p.Arg775=) c.1912A>C (p.Arg638=) c.34A>C (p.Arg12=) | gnomAD v4 |
2 | g.169259216T>A | CA429921183 | LRP2 | c.2322A>T (p.Gly774=) c.1911A>T (p.Gly637=) c.33A>T (p.Gly11=) | ClinVar |
2 | g.169259216T>C | CA429921184 | LRP2 | c.2322A>G (p.Gly774=) c.1911A>G (p.Gly637=) c.33A>G (p.Gly11=) | |
2 | g.169259216T>G | CA429921182 | LRP2 | c.2322A>C (p.Gly774=) c.1911A>C (p.Gly637=) c.33A>C (p.Gly11=) | |
2 | g.169259217C>A | CA349158776 | LRP2 | c.2321G>T (p.Gly774Val) c.1910G>T (p.Gly637Val) c.32G>T (p.Gly11Val) | |
2 | g.169259217C= | CA1306353800 | LRP2 | c.2321G= (p.Gly774=) c.1910G= (p.Gly637=) c.32G= (p.Gly11=) | |
2 | g.169259217C>G | CA349158779 | LRP2 | c.2321G>C (p.Gly774Ala) c.1910G>C (p.Gly637Ala) c.32G>C (p.Gly11Ala) | |
2 | g.169259217C>T | CA349158774 | LRP2 | c.2321G>A (p.Gly774Glu) c.1910G>A (p.Gly637Glu) c.32G>A (p.Gly11Glu) | dbSNP COSMIC |
2 | g.169259218C>A | CA16617324 | LRP2 | c.2321-1G>T (n.2321-1G>T) c.1910-1G>T (n.1910-1G>T) c.32-1G>T (n.32-1G>T) | ClinVar dbSNP |
2 | g.169259218C= | CA1306353801 | LRP2 | c.2321-1G= (n.2321-1G=) c.1910-1G= (n.1910-1G=) c.32-1G= (n.32-1G=) | |
2 | g.169259218C>G | CA349158782 | LRP2 | c.2321-1G>C (n.2321-1G>C) c.1910-1G>C (n.1910-1G>C) c.32-1G>C (n.32-1G>C) | |
2 | g.169259218C>T | CA349158784 | LRP2 | c.2321-1G>A (n.2321-1G>A) c.1910-1G>A (n.1910-1G>A) c.32-1G>A (n.32-1G>A) | |
2 | g.169259219T>A | CA349158789 | LRP2 | c.2321-2A>T (n.2321-2A>T) c.1910-2A>T (n.1910-2A>T) c.32-2A>T (n.32-2A>T) | |
2 | g.169259219T>C | CA349158791 | LRP2 | c.2321-2A>G (n.2321-2A>G) c.1910-2A>G (n.1910-2A>G) c.32-2A>G (n.32-2A>G) | |
2 | g.169259219T>G | CA349158794 | LRP2 | c.2321-2A>C (n.2321-2A>C) c.1910-2A>C (n.1910-2A>C) c.32-2A>C (n.32-2A>C) | |
2 | g.169259220A= | CA1306353802 | LRP2 | c.2321-3T= (n.2321-3T=) c.1910-3T= (n.1910-3T=) c.32-3T= (n.32-3T=) | |
2 | g.169259220A>G | CA1955318 | LRP2 | c.2321-3T>C (n.2321-3T>C) c.1910-3T>C (n.1910-3T>C) c.32-3T>C (n.32-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259221T>C | CA2661822906 | LRP2 | c.2321-4A>G (n.2321-4A>G) c.1910-4A>G (n.1910-4A>G) c.32-4A>G (n.32-4A>G) | gnomAD v4 |
2 | g.169259222_169259225delinsAAGT | CA1306353803 | LRP2 | c.2321-8_2321-5delinsACTT (n.2321-8_2321-5delinsACTT) c.1910-8_1910-5delinsACTT (n.1910-8_1910-5delinsACTT) c.32-8_32-5delinsACTT (n.32-8_32-5delinsACTT) | |
2 | g.169259223_169259225del | CA760480314 | LRP2 | c.2321-8_2321-6del (n.2321-8_2321-6del) c.1910-8_1910-6del (n.1910-8_1910-6del) c.32-8_32-6del (n.32-8_32-6del) | dbSNP |
2 | g.169259224G>C | CA760480320 | LRP2 | c.2321-7C>G (n.2321-7C>G) c.1910-7C>G (n.1910-7C>G) c.32-7C>G (n.32-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259224G= | CA1306353804 | LRP2 | c.2321-7C= (n.2321-7C=) c.1910-7C= (n.1910-7C=) c.32-7C= (n.32-7C=) | |
2 | g.169259230A= | CA1306353805 | LRP2 | c.2321-13T= (n.2321-13T=) c.1910-13T= (n.1910-13T=) c.32-13T= (n.32-13T=) | |
2 | g.169259230A>G | CA1039058268 | LRP2 | c.2321-13T>C (n.2321-13T>C) c.1910-13T>C (n.1910-13T>C) c.32-13T>C (n.32-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259230A>T | CA760480324 | LRP2 | c.2321-13T>A (n.2321-13T>A) c.1910-13T>A (n.1910-13T>A) c.32-13T>A (n.32-13T>A) | dbSNP |
2 | g.169259231T>C | CA537972009 | LRP2 | c.2321-14A>G (n.2321-14A>G) c.1910-14A>G (n.1910-14A>G) c.32-14A>G (n.32-14A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259231T>G | CA1955319 | LRP2 | c.2321-14A>C (n.2321-14A>C) c.1910-14A>C (n.1910-14A>C) c.32-14A>C (n.32-14A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259231T= | CA1306353806 | LRP2 | c.2321-14A= (n.2321-14A=) c.1910-14A= (n.1910-14A=) c.32-14A= (n.32-14A=) | |
2 | g.169259232A>G | CA2661822907 | LRP2 | c.2321-15T>C (n.2321-15T>C) c.1910-15T>C (n.1910-15T>C) c.32-15T>C (n.32-15T>C) | gnomAD v4 |
2 | g.169259233T>C | CA537972010 | LRP2 | c.2321-16A>G (n.2321-16A>G) c.1910-16A>G (n.1910-16A>G) c.32-16A>G (n.32-16A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259233T= | CA1306353807 | LRP2 | c.2321-16A= (n.2321-16A=) c.1910-16A= (n.1910-16A=) c.32-16A= (n.32-16A=) | |
2 | g.169259234G= | CA1306353808 | LRP2 | c.2321-17C= (n.2321-17C=) c.1910-17C= (n.1910-17C=) c.32-17C= (n.32-17C=) | |
2 | g.169259234G>T | CA1955320 | LRP2 | c.2321-17C>A (n.2321-17C>A) c.1910-17C>A (n.1910-17C>A) c.32-17C>A (n.32-17C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259235G>A | CA2753102783 | LRP2 | c.2321-18C>T (n.2321-18C>T) c.1910-18C>T (n.1910-18C>T) c.32-18C>T (n.32-18C>T) | |
2 | g.169259235G>T | CA2577150294 | LRP2 | c.2321-18C>A (n.2321-18C>A) c.1910-18C>A (n.1910-18C>A) c.32-18C>A (n.32-18C>A) | gnomAD v4 |
2 | g.169259236A>C | CA2577150295 | LRP2 | c.2321-19T>G (n.2321-19T>G) c.1910-19T>G (n.1910-19T>G) c.32-19T>G (n.32-19T>G) | gnomAD v4 |
2 | g.169259236A>G | CA2661822908 | LRP2 | c.2321-19T>C (n.2321-19T>C) c.1910-19T>C (n.1910-19T>C) c.32-19T>C (n.32-19T>C) | gnomAD v4 |
2 | g.169259237C>A | CA2661822909 | LRP2 | c.2321-20G>T (n.2321-20G>T) c.1910-20G>T (n.1910-20G>T) c.32-20G>T (n.32-20G>T) | gnomAD v4 |
2 | g.169259237C>T | CA2740095861 | LRP2 | c.2321-20G>A (n.2321-20G>A) c.1910-20G>A (n.1910-20G>A) c.32-20G>A (n.32-20G>A) | ClinVar |
2 | g.169259237_169259239delinsCAT | CA1306353809 | LRP2 | c.2321-22_2321-20delinsATG (n.2321-22_2321-20delinsATG) c.1910-22_1910-20delinsATG (n.1910-22_1910-20delinsATG) c.32-22_32-20delinsATG (n.32-22_32-20delinsATG) | |
2 | g.169259238A>G | CA2661822910 | LRP2 | c.2321-21T>C (n.2321-21T>C) c.1910-21T>C (n.1910-21T>C) c.32-21T>C (n.32-21T>C) | gnomAD v4 |
2 | g.169259240_169259241del | CA537972011 | LRP2 | c.2321-22_2321-21del (n.2321-22_2321-21del) c.1910-22_1910-21del (n.1910-22_1910-21del) c.32-22_32-21del (n.32-22_32-21del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259241T>C | CA2661822911 | LRP2 | c.2321-24A>G (n.2321-24A>G) c.1910-24A>G (n.1910-24A>G) c.32-24A>G (n.32-24A>G) | gnomAD v4 |
2 | g.169259243T>G | CA537972012 | LRP2 | c.2321-26A>C (n.2321-26A>C) c.1910-26A>C (n.1910-26A>C) c.32-26A>C (n.32-26A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259243T= | CA1306353810 | LRP2 | c.2321-26A= (n.2321-26A=) c.1910-26A= (n.1910-26A=) c.32-26A= (n.32-26A=) | |
2 | g.169259243_169259244insAAC | CA2661822912 | LRP2 | c.2321-27_2321-26insGTT (n.2321-27_2321-26insGTT) c.1910-27_1910-26insGTT (n.1910-27_1910-26insGTT) c.32-27_32-26insGTT (n.32-27_32-26insGTT) | gnomAD v4 |
2 | g.169259245A>T | CA2661822913 | LRP2 | c.2321-28T>A (n.2321-28T>A) c.1910-28T>A (n.1910-28T>A) c.32-28T>A (n.32-28T>A) | gnomAD v4 |
2 | g.169259246_169259247insCTTATAG | CA2830543103 | LRP2 | c.2321-30_2321-29insCTATAAG (n.2321-30_2321-29insCTATAAG) c.1910-30_1910-29insCTATAAG (n.1910-30_1910-29insCTATAAG) c.32-30_32-29insCTATAAG (n.32-30_32-29insCTATAAG) | |
2 | g.169259247del | CA2577150296 | LRP2 | c.2321-30del (n.2321-30del) c.1910-30del (n.1910-30del) c.32-30del (n.32-30del) | |
2 | g.169259247G>A | CA2661822914 | LRP2 | c.2321-30C>T (n.2321-30C>T) c.1910-30C>T (n.1910-30C>T) c.32-30C>T (n.32-30C>T) | gnomAD v4 |
2 | g.169259247G>C | CA2577150297 | LRP2 | c.2321-30C>G (n.2321-30C>G) c.1910-30C>G (n.1910-30C>G) c.32-30C>G (n.32-30C>G) | |
2 | g.169259247G>T | CA2661822915 | LRP2 | c.2321-30C>A (n.2321-30C>A) c.1910-30C>A (n.1910-30C>A) c.32-30C>A (n.32-30C>A) | gnomAD v4 |
2 | g.169259248C>T | CA2661822916 | LRP2 | c.2321-31G>A (n.2321-31G>A) c.1910-31G>A (n.1910-31G>A) c.32-31G>A (n.32-31G>A) | gnomAD v4 |
2 | g.169259250_169259251insT | CA2843582622 | LRP2 | c.2321-34_2321-33insA (n.2321-34_2321-33insA) c.1910-34_1910-33insA (n.1910-34_1910-33insA) c.32-34_32-33insA (n.32-34_32-33insA) | |
2 | g.169259252G>A | CA1955321 | LRP2 | c.2321-35C>T (n.2321-35C>T) c.1910-35C>T (n.1910-35C>T) c.32-35C>T (n.32-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259252G>C | CA2661822918 | LRP2 | c.2321-35C>G (n.2321-35C>G) c.1910-35C>G (n.1910-35C>G) c.32-35C>G (n.32-35C>G) | gnomAD v4 |
2 | g.169259252G= | CA1306353811 | LRP2 | c.2321-35C= (n.2321-35C=) c.1910-35C= (n.1910-35C=) c.32-35C= (n.32-35C=) | |
2 | g.169259252G>T | CA2661822919 | LRP2 | c.2321-35C>A (n.2321-35C>A) c.1910-35C>A (n.1910-35C>A) c.32-35C>A (n.32-35C>A) | gnomAD v4 |
2 | g.169259253T>C | CA1306353813 | LRP2 | c.2321-36A>G (n.2321-36A>G) c.1910-36A>G (n.1910-36A>G) c.32-36A>G (n.32-36A>G) | dbSNP |
2 | g.169259253T= | CA1306353812 | LRP2 | c.2321-36A= (n.2321-36A=) c.1910-36A= (n.1910-36A=) c.32-36A= (n.32-36A=) | |
2 | g.169259254A= | CA1306353814 | LRP2 | c.2321-37T= (n.2321-37T=) c.1910-37T= (n.1910-37T=) c.32-37T= (n.32-37T=) | |
2 | g.169259254A>G | CA1039058272 | LRP2 | c.2321-37T>C (n.2321-37T>C) c.1910-37T>C (n.1910-37T>C) c.32-37T>C (n.32-37T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259255T>C | CA537972013 | LRP2 | c.2321-38A>G (n.2321-38A>G) c.1910-38A>G (n.1910-38A>G) c.32-38A>G (n.32-38A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259255T= | CA1306353815 | LRP2 | c.2321-38A= (n.2321-38A=) c.1910-38A= (n.1910-38A=) c.32-38A= (n.32-38A=) |