Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94404602_94404693del | CA2776990967 | COL1A2 | c.324+2_325del c.318+2_319del | |
7 | g.94404686C>A | CA16605301 | COL1A2 | c.325-7C>A (n.325-7C>A) c.319-7C>A (n.319-7C>A) | ClinVar dbSNP |
7 | g.94404686C= | CA1726792194 | COL1A2 | c.325-7C= (n.325-7C=) c.319-7C= (n.319-7C=) | |
7 | g.94404686C>T | CA1104605193 | COL1A2 | c.325-7C>T (n.325-7C>T) c.319-7C>T (n.319-7C>T) | gnomAD v3 gnomAD v4 |
7 | g.94404688T>C | CA576321553 | COL1A2 | c.325-5T>C (n.325-5T>C) c.319-5T>C (n.319-5T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404688T= | CA1726792195 | COL1A2 | c.325-5T= (n.325-5T=) c.319-5T= (n.319-5T=) | |
7 | g.94404690T>G | CA2683767104 | COL1A2 | c.325-3T>G (n.325-3T>G) c.319-3T>G (n.319-3T>G) | gnomAD v4 |
7 | g.94404691A>C | CA368219513 | COL1A2 | c.325-2A>C (n.325-2A>C) c.319-2A>C (n.319-2A>C) | |
7 | g.94404691A>G | CA368219514 | COL1A2 | c.325-2A>G (n.325-2A>G) c.319-2A>G (n.319-2A>G) | |
7 | g.94404691A>T | CA368219515 | COL1A2 | c.325-2A>T (n.325-2A>T) c.319-2A>T (n.319-2A>T) | |
7 | g.94404692G>A | CA368219518 | COL1A2 | c.325-1G>A (n.325-1G>A) c.319-1G>A (n.319-1G>A) | |
7 | g.94404692G>C | CA368219516 | COL1A2 | c.325-1G>C (n.325-1G>C) c.319-1G>C (n.319-1G>C) | |
7 | g.94404692G>T | CA368219517 | COL1A2 | c.325-1G>T (n.325-1G>T) c.319-1G>T (n.319-1G>T) | |
7 | g.94404693G>A | CA368219519 | COL1A2 | c.325G>A (p.Gly109Ser) c.319G>A (p.Gly107Ser) | |
7 | g.94404693G>C | CA368219520 | COL1A2 | c.325G>C (p.Gly109Arg) c.319G>C (p.Gly107Arg) | ClinVar |
7 | g.94404693G>T | CA368219521 | COL1A2 | c.325G>T (p.Gly109Cys) c.319G>T (p.Gly107Cys) | COSMIC |
7 | g.94404694G>A | CA368219522 | COL1A2 | c.326G>A (p.Gly109Asp) c.320G>A (p.Gly107Asp) | ClinVar dbSNP |
7 | g.94404694G>C | CA368219523 | COL1A2 | c.326G>C (p.Gly109Ala) c.320G>C (p.Gly107Ala) | |
7 | g.94404694G= | CA1726792196 | COL1A2 | c.326G= (p.Gly109=) c.320G= (p.Gly107=) | |
7 | g.94404694G>T | CA368219524 | COL1A2 | c.326G>T (p.Gly109Val) c.320G>T (p.Gly107Val) | ClinVar dbSNP gnomAD v4 |
7 | g.94404694_94404695insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC | CA2776990983 | COL1A2 | c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC (p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaIlePheSerThrIleIleSerTyrAsnArgLeuPheGlnLysAlaValSerIleMetPheTyrPheSerPheThr) c.320_321insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC (p.Gly107_Pro108insLysGlnSerSerIleIleTrpAlaIlePheSerThrIleIleSerTyrAsnArgLeuPheGlnLysAlaValSerIleMetPheTyrPheSerPheThr) | |
7 | g.94404695C>A | CA456487091 | COL1A2 | c.327C>A (p.Gly109=) c.321C>A (p.Gly107=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404695C= | CA1726792197 | COL1A2 | c.327C= (p.Gly109=) c.321C= (p.Gly107=) | |
7 | g.94404695C>G | CA456487090 | COL1A2 | c.327C>G (p.Gly109=) c.321C>G (p.Gly107=) | |
7 | g.94404695C>T | CA4346631 | COL1A2 | c.327C>T (p.Gly109=) c.321C>T (p.Gly107=) | dbSNP ExAC gnomAD v4 |
7 | g.94404696C>A | CA368219525 | COL1A2 | c.328C>A (p.Pro110Thr) c.322C>A (p.Pro108Thr) | |
7 | g.94404696C>G | CA368219526 | COL1A2 | c.328C>G (p.Pro110Ala) c.322C>G (p.Pro108Ala) | |
7 | g.94404696C>T | CA368219527 | COL1A2 | c.328C>T (p.Pro110Ser) c.322C>T (p.Pro108Ser) | |
7 | g.94404697C>A | CA368219528 | COL1A2 | c.329C>A (p.Pro110His) c.323C>A (p.Pro108His) | |
7 | g.94404697C= | CA1726792198 | COL1A2 | c.329C= (p.Pro110=) c.323C= (p.Pro108=) | |
7 | g.94404697C>G | CA368219529 | COL1A2 | c.329C>G (p.Pro110Arg) c.323C>G (p.Pro108Arg) | |
7 | g.94404697C>T | CA4346632 | COL1A2 | c.329C>T (p.Pro110Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404698T>A | CA456487095 | COL1A2 | c.330T>A (p.Pro110=) c.324T>A (p.Pro108=) | |
7 | g.94404698T>C | CA456487096 | COL1A2 | c.330T>C (p.Pro110=) c.324T>C (p.Pro108=) | |
7 | g.94404698T>G | CA456487097 | COL1A2 | c.330T>G (p.Pro110=) c.324T>G (p.Pro108=) | dbSNP |
7 | g.94404698T= | CA1726792199 | COL1A2 | c.330T= (p.Pro110=) c.324T= (p.Pro108=) | |
7 | g.94404699C>A | CA368219530 | COL1A2 | c.331C>A (p.Gln111Lys) c.325C>A (p.Gln109Lys) | |
7 | g.94404699C>G | CA368219532 | COL1A2 | c.331C>G (p.Gln111Glu) c.325C>G (p.Gln109Glu) | COSMIC |
7 | g.94404699C>T | CA368219531 | COL1A2 | c.331C>T (p.Gln111Ter) c.325C>T (p.Gln109Ter) | |
7 | g.94404700A>C | CA368219533 | COL1A2 | c.332A>C (p.Gln111Pro) c.326A>C (p.Gln109Pro) | |
7 | g.94404700A>G | CA368219534 | COL1A2 | c.332A>G (p.Gln111Arg) c.326A>G (p.Gln109Arg) | |
7 | g.94404700A>T | CA368219535 | COL1A2 | c.332A>T (p.Gln111Leu) c.326A>T (p.Gln109Leu) | |
7 | g.94404701A= | CA1726792200 | COL1A2 | c.333A= (p.Gln111=) c.327A= (p.Gln109=) | |
7 | g.94404701A>C | CA368219536 | COL1A2 | c.333A>C (p.Gln111His) c.327A>C (p.Gln109His) | |
7 | g.94404701A>G | CA456487100 | COL1A2 | c.333A>G (p.Gln111=) c.327A>G (p.Gln109=) | ClinVar dbSNP gnomAD v4 |
7 | g.94404701A>T | CA368219537 | COL1A2 | c.333A>T (p.Gln111His) c.327A>T (p.Gln109His) | |
7 | g.94404702G>A | CA368219538 | COL1A2 | c.334G>A (p.Gly112Ser) c.328G>A (p.Gly110Ser) | ClinVar dbSNP |
7 | g.94404702G>C | CA368219539 | COL1A2 | c.334G>C (p.Gly112Arg) c.328G>C (p.Gly110Arg) | |
7 | g.94404702G= | CA1726792201 | COL1A2 | c.334G= (p.Gly112=) c.328G= (p.Gly110=) | |
7 | g.94404702G>T | CA368219540 | COL1A2 | c.334G>T (p.Gly112Cys) c.328G>T (p.Gly110Cys) | |
7 | g.94404703G>A | CA368219541 | COL1A2 | c.335G>A (p.Gly112Asp) c.329G>A (p.Gly110Asp) | ClinVar dbSNP |
7 | g.94404703G>C | CA368219542 | COL1A2 | c.335G>C (p.Gly112Ala) c.329G>C (p.Gly110Ala) | |
7 | g.94404703G= | CA1726792202 | COL1A2 | c.335G= (p.Gly112=) c.329G= (p.Gly110=) | |
7 | g.94404703G>T | CA368219543 | COL1A2 | c.335G>T (p.Gly112Val) c.329G>T (p.Gly110Val) | ClinVar |
7 | g.94404704T>A | CA456487104 | COL1A2 | c.336T>A (p.Gly112=) c.330T>A (p.Gly110=) | |
7 | g.94404704T>C | CA456487105 | COL1A2 | c.336T>C (p.Gly112=) c.330T>C (p.Gly110=) | |
7 | g.94404704T>G | CA456487106 | COL1A2 | c.336T>G (p.Gly112=) c.330T>G (p.Gly110=) | |
7 | g.94404705T>A | CA368219546 | COL1A2 | c.337T>A (p.Phe113Ile) c.331T>A (p.Phe111Ile) | |
7 | g.94404705T>C | CA368219545 | COL1A2 | c.337T>C (p.Phe113Leu) c.331T>C (p.Phe111Leu) | |
7 | g.94404705T>G | CA368219544 | COL1A2 | c.337T>G (p.Phe113Val) c.331T>G (p.Phe111Val) | |
7 | g.94404706T>A | CA368219547 | COL1A2 | c.338T>A (p.Phe113Tyr) c.332T>A (p.Phe111Tyr) | |
7 | g.94404706T>C | CA368219548 | COL1A2 | c.338T>C (p.Phe113Ser) c.332T>C (p.Phe111Ser) | |
7 | g.94404706T>G | CA368219549 | COL1A2 | c.338T>G (p.Phe113Cys) c.332T>G (p.Phe111Cys) | |
7 | g.94404707C>A | CA368219550 | COL1A2 | c.339C>A (p.Phe113Leu) c.333C>A (p.Phe111Leu) | |
7 | g.94404707C>G | CA368219551 | COL1A2 | c.339C>G (p.Phe113Leu) c.333C>G (p.Phe111Leu) | |
7 | g.94404707C>T | CA456487109 | COL1A2 | c.339C>T (p.Phe113=) c.333C>T (p.Phe111=) | |
7 | g.94404708C>A | CA368219552 | COL1A2 | c.340C>A (p.Gln114Lys) c.334C>A (p.Gln112Lys) | |
7 | g.94404708C>G | CA368219553 | COL1A2 | c.340C>G (p.Gln114Glu) c.334C>G (p.Gln112Glu) | |
7 | g.94404708C>T | CA368219554 | COL1A2 | c.340C>T (p.Gln114Ter) c.334C>T (p.Gln112Ter) | |
7 | g.94404709A>C | CA368219555 | COL1A2 | c.341A>C (p.Gln114Pro) c.335A>C (p.Gln112Pro) | |
7 | g.94404709A>G | CA368219556 | COL1A2 | c.341A>G (p.Gln114Arg) c.335A>G (p.Gln112Arg) | ClinVar dbSNP |
7 | g.94404709A>T | CA368219557 | COL1A2 | c.341A>T (p.Gln114Leu) c.335A>T (p.Gln112Leu) | |
7 | g.94404710A>C | CA368219558 | COL1A2 | c.342A>C (p.Gln114His) c.336A>C (p.Gln112His) | |
7 | g.94404710A>G | CA456487111 | COL1A2 | c.342A>G (p.Gln114=) c.336A>G (p.Gln112=) | ClinVar |
7 | g.94404710A>T | CA368219559 | COL1A2 | c.342A>T (p.Gln114His) c.336A>T (p.Gln112His) | |
7 | g.94404711G>A | CA368219561 | COL1A2 | c.343G>A (p.Gly115Arg) c.337G>A (p.Gly113Arg) | ClinVar dbSNP |
7 | g.94404711G>C | CA368219562 | COL1A2 | c.343G>C (p.Gly115Arg) c.337G>C (p.Gly113Arg) | |
7 | g.94404711G= | CA1726792203 | COL1A2 | c.343G= (p.Gly115=) c.337G= (p.Gly113=) | |
7 | g.94404711G>T | CA368219560 | COL1A2 | c.343G>T (p.Gly115Ter) c.337G>T (p.Gly113Ter) | |
7 | g.94404712G>A | CA368219563 | COL1A2 | c.344G>A (p.Gly115Glu) c.338G>A (p.Gly113Glu) | gnomAD v4 |
7 | g.94404712G>C | CA368219565 | COL1A2 | c.344G>C (p.Gly115Ala) c.338G>C (p.Gly113Ala) | |
7 | g.94404712G>T | CA368219564 | COL1A2 | c.344G>T (p.Gly115Val) c.338G>T (p.Gly113Val) | |
7 | g.94404713A>C | CA456487114 | COL1A2 | c.345A>C (p.Gly115=) c.339A>C (p.Gly113=) | |
7 | g.94404713A>G | CA456487116 | COL1A2 | c.345A>G (p.Gly115=) c.339A>G (p.Gly113=) | |
7 | g.94404713A>T | CA456487118 | COL1A2 | c.345A>T (p.Gly115=) c.339A>T (p.Gly113=) | gnomAD v4 |
7 | g.94404714C>A | CA4346633 | COL1A2 | c.346C>A (p.Pro116Thr) c.340C>A (p.Pro114Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94404714C= | CA1726792204 | COL1A2 | c.346C= (p.Pro116=) c.340C= (p.Pro114=) | |
7 | g.94404714C>G | CA368219567 | COL1A2 | c.346C>G (p.Pro116Ala) c.340C>G (p.Pro114Ala) | |
7 | g.94404714C>T | CA368219566 | COL1A2 | c.346C>T (p.Pro116Ser) c.340C>T (p.Pro114Ser) | ClinVar |
7 | g.94404715C>A | CA368219568 | COL1A2 | c.347C>A (p.Pro116His) c.341C>A (p.Pro114His) | |
7 | g.94404715C>G | CA368219570 | COL1A2 | c.347C>G (p.Pro116Arg) c.341C>G (p.Pro114Arg) | |
7 | g.94404715C>T | CA368219569 | COL1A2 | c.347C>T (p.Pro116Leu) c.341C>T (p.Pro114Leu) | |
7 | g.94404716T>A | CA456487120 | COL1A2 | c.348T>A (p.Pro116=) c.342T>A (p.Pro114=) | |
7 | g.94404716T>C | CA456487122 | COL1A2 | c.348T>C (p.Pro116=) c.342T>C (p.Pro114=) | ClinVar |
7 | g.94404716T>G | CA456487121 | COL1A2 | c.348T>G (p.Pro116=) c.342T>G (p.Pro114=) | |
7 | g.94404717G>A | CA368219571 | COL1A2 | c.349G>A (p.Ala117Thr) c.343G>A (p.Ala115Thr) | |
7 | g.94404717G>C | CA368219572 | COL1A2 | c.349G>C (p.Ala117Pro) c.343G>C (p.Ala115Pro) | |
7 | g.94404717G>T | CA368219573 | COL1A2 | c.349G>T (p.Ala117Ser) c.343G>T (p.Ala115Ser) | |
7 | g.94404718C>A | CA368219574 | COL1A2 | c.350C>A (p.Ala117Asp) c.344C>A (p.Ala115Asp) | |
7 | g.94404718C>G | CA368219575 | COL1A2 | c.350C>G (p.Ala117Gly) c.344C>G (p.Ala115Gly) | |
7 | g.94404718C>T | CA368219576 | COL1A2 | c.350C>T (p.Ala117Val) c.344C>T (p.Ala115Val) | ClinVar gnomAD v4 |
7 | g.94404719T>A | CA4346634 | COL1A2 | c.351T>A (p.Ala117=) c.345T>A (p.Ala115=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404719T>C | CA456487126 | COL1A2 | c.351T>C (p.Ala117=) c.345T>C (p.Ala115=) | gnomAD v4 |
7 | g.94404719T>G | CA456487127 | COL1A2 | c.351T>G (p.Ala117=) c.345T>G (p.Ala115=) | |
7 | g.94404719T= | CA1726792205 | COL1A2 | c.351T= (p.Ala117=) c.345T= (p.Ala115=) | |
7 | g.94404720G>A | CA368219577 | COL1A2 | c.352G>A (p.Gly118Ser) c.346G>A (p.Gly116Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404720G>C | CA368219578 | COL1A2 | c.352G>C (p.Gly118Arg) c.346G>C (p.Gly116Arg) | |
7 | g.94404720G= | CA1726792206 | COL1A2 | c.352G= (p.Gly118=) c.346G= (p.Gly116=) | |
7 | g.94404720G>T | CA368219579 | COL1A2 | c.352G>T (p.Gly118Cys) c.346G>T (p.Gly116Cys) | |
7 | g.94404721G>A | CA162914240 | COL1A2 | c.353G>A (p.Gly118Asp) c.347G>A (p.Gly116Asp) | ClinVar dbSNP |
7 | g.94404721G>C | CA368219581 | COL1A2 | c.353G>C (p.Gly118Ala) c.347G>C (p.Gly116Ala) | |
7 | g.94404721G= | CA1726792207 | COL1A2 | c.353G= (p.Gly118=) c.347G= (p.Gly116=) | |
7 | g.94404721G>T | CA368219580 | COL1A2 | c.353G>T (p.Gly118Val) c.347G>T (p.Gly116Val) | ClinVar dbSNP |
7 | g.94404722T>A | CA456487131 | COL1A2 | c.354T>A (p.Gly118=) c.348T>A (p.Gly116=) | |
7 | g.94404722T>C | CA162914245 | COL1A2 | c.354T>C (p.Gly118=) c.348T>C (p.Gly116=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404722T>G | CA456487133 | COL1A2 | c.354T>G (p.Gly118=) c.348T>G (p.Gly116=) | |
7 | g.94404722T= | CA1726792208 | COL1A2 | c.354T= (p.Gly118=) c.348T= (p.Gly116=) | |
7 | g.94404723G>A | CA368219582 | COL1A2 | c.355G>A (p.Glu119Lys) c.349G>A (p.Glu117Lys) | gnomAD v4 COSMIC |
7 | g.94404723G>C | CA368219583 | COL1A2 | c.355G>C (p.Glu119Gln) c.349G>C (p.Glu117Gln) | |
7 | g.94404723G>T | CA368219584 | COL1A2 | c.355G>T (p.Glu119Ter) c.349G>T (p.Glu117Ter) | |
7 | g.94404724A>C | CA368219585 | COL1A2 | c.356A>C (p.Glu119Ala) c.350A>C (p.Glu117Ala) | |
7 | g.94404724A>G | CA368219586 | COL1A2 | c.356A>G (p.Glu119Gly) c.350A>G (p.Glu117Gly) | |
7 | g.94404724A>T | CA368219587 | COL1A2 | c.356A>T (p.Glu119Val) c.350A>T (p.Glu117Val) | gnomAD v4 |
7 | g.94404725G>A | CA456487135 | COL1A2 | c.357G>A (p.Glu119=) c.351G>A (p.Glu117=) | gnomAD v4 |
7 | g.94404725G>C | CA368219588 | COL1A2 | c.357G>C (p.Glu119Asp) c.351G>C (p.Glu117Asp) | |
7 | g.94404725G>T | CA368219589 | COL1A2 | c.357G>T (p.Glu119Asp) c.351G>T (p.Glu117Asp) | |
7 | g.94404726C>A | CA368219590 | COL1A2 | c.358C>A (p.Pro120Thr) c.352C>A (p.Pro118Thr) | |
7 | g.94404726C>G | CA368219591 | COL1A2 | c.358C>G (p.Pro120Ala) c.352C>G (p.Pro118Ala) | gnomAD v4 |
7 | g.94404726C>T | CA368219592 | COL1A2 | c.358C>T (p.Pro120Ser) c.352C>T (p.Pro118Ser) | |
7 | g.94404727C>A | CA368219595 | COL1A2 | c.359C>A (p.Pro120His) c.353C>A (p.Pro118His) | |
7 | g.94404727C>G | CA368219594 | COL1A2 | c.359C>G (p.Pro120Arg) c.353C>G (p.Pro118Arg) | |
7 | g.94404727C>T | CA368219593 | COL1A2 | c.359C>T (p.Pro120Leu) c.353C>T (p.Pro118Leu) | |
7 | g.94404728T>A | CA456487140 | COL1A2 | c.360T>A (p.Pro120=) c.354T>A (p.Pro118=) | |
7 | g.94404728T>C | CA456487142 | COL1A2 | c.360T>C (p.Pro120=) c.354T>C (p.Pro118=) | gnomAD v4 |
7 | g.94404728T>G | CA456487141 | COL1A2 | c.360T>G (p.Pro120=) c.354T>G (p.Pro118=) | |
7 | g.94404729G>A | CA368219596 | COL1A2 | c.361G>A (p.Gly121Ser) c.355G>A (p.Gly119Ser) | |
7 | g.94404729G>C | CA368219597 | COL1A2 | c.361G>C (p.Gly121Arg) c.355G>C (p.Gly119Arg) | |
7 | g.94404729G>T | CA368219598 | COL1A2 | c.361G>T (p.Gly121Cys) c.355G>T (p.Gly119Cys) | |
7 | g.94404730G>A | CA368219599 | COL1A2 | c.362G>A (p.Gly121Asp) c.356G>A (p.Gly119Asp) | ClinVar dbSNP |
7 | g.94404730G>C | CA368219600 | COL1A2 | c.362G>C (p.Gly121Ala) c.356G>C (p.Gly119Ala) | |
7 | g.94404730G>T | CA368219601 | COL1A2 | c.362G>T (p.Gly121Val) c.356G>T (p.Gly119Val) | |
7 | g.94404731T>A | CA456487145 | COL1A2 | c.363T>A (p.Gly121=) c.357T>A (p.Gly119=) | |
7 | g.94404731T>C | CA162914254 | COL1A2 | c.363T>C (p.Gly121=) c.357T>C (p.Gly119=) | dbSNP |
7 | g.94404731T>G | CA4346635 | COL1A2 | c.363T>G (p.Gly121=) c.357T>G (p.Gly119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404731T= | CA1726792209 | COL1A2 | c.363T= (p.Gly121=) c.357T= (p.Gly119=) | |
7 | g.94404732G>A | CA368219602 | COL1A2 | c.364G>A (p.Glu122Lys) c.358G>A (p.Glu120Lys) | |
7 | g.94404732G>C | CA368219603 | COL1A2 | c.364G>C (p.Glu122Gln) c.358G>C (p.Glu120Gln) | |
7 | g.94404732G>T | CA368219604 | COL1A2 | c.364G>T (p.Glu122Ter) c.358G>T (p.Glu120Ter) | |
7 | g.94404733A>C | CA368219605 | COL1A2 | c.365A>C (p.Glu122Ala) c.359A>C (p.Glu120Ala) | |
7 | g.94404733A>G | CA368219606 | COL1A2 | c.365A>G (p.Glu122Gly) c.359A>G (p.Glu120Gly) | |
7 | g.94404733A>T | CA368219607 | COL1A2 | c.365A>T (p.Glu122Val) c.359A>T (p.Glu120Val) | |
7 | g.94404734A>C | CA368219608 | COL1A2 | c.366A>C (p.Glu122Asp) c.360A>C (p.Glu120Asp) | |
7 | g.94404734A>G | CA456487147 | COL1A2 | c.366A>G (p.Glu122=) c.360A>G (p.Glu120=) | |
7 | g.94404734A>T | CA368219609 | COL1A2 | c.366A>T (p.Glu122Asp) c.360A>T (p.Glu120Asp) | gnomAD v4 |
7 | g.94404735C>A | CA368219610 | COL1A2 | c.367C>A (p.Pro123Thr) c.361C>A (p.Pro121Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.94404735C= | CA1726792210 | COL1A2 | c.367C= (p.Pro123=) c.361C= (p.Pro121=) | |
7 | g.94404735C>G | CA368219611 | COL1A2 | c.367C>G (p.Pro123Ala) c.361C>G (p.Pro121Ala) | |
7 | g.94404735C>T | CA162914283 | COL1A2 | c.367C>T (p.Pro123Ser) c.361C>T (p.Pro121Ser) | dbSNP gnomAD v4 |
7 | g.94404736C>A | CA368219612 | COL1A2 | c.368C>A (p.Pro123His) c.362C>A (p.Pro121His) | ClinVar dbSNP gnomAD v4 |
7 | g.94404736C= | CA1726792211 | COL1A2 | c.368C= (p.Pro123=) c.362C= (p.Pro121=) | |
7 | g.94404736C>G | CA368219613 | COL1A2 | c.368C>G (p.Pro123Arg) c.362C>G (p.Pro121Arg) | |
7 | g.94404736C>T | CA368219614 | COL1A2 | c.368C>T (p.Pro123Leu) c.362C>T (p.Pro121Leu) | gnomAD v4 |
7 | g.94404737T>A | CA456487151 | COL1A2 | c.369T>A (p.Pro123=) c.363T>A (p.Pro121=) | |
7 | g.94404737T>C | CA456487153 | COL1A2 | c.369T>C (p.Pro123=) c.363T>C (p.Pro121=) | gnomAD v4 |
7 | g.94404737T>G | CA456487154 | COL1A2 | c.369T>G (p.Pro123=) c.363T>G (p.Pro121=) | |
7 | g.94404738G>A | CA368219615 | COL1A2 | c.370G>A (p.Gly124Ser) c.364G>A (p.Gly122Ser) | |
7 | g.94404738G>C | CA368219616 | COL1A2 | c.370G>C (p.Gly124Arg) c.364G>C (p.Gly122Arg) | |
7 | g.94404738G>T | CA368219617 | COL1A2 | c.370G>T (p.Gly124Cys) c.364G>T (p.Gly122Cys) | |
7 | g.94404739G>A | CA162914284 | COL1A2 | c.371G>A (p.Gly124Asp) c.365G>A (p.Gly122Asp) | ClinVar dbSNP |
7 | g.94404739G>C | CA368219618 | COL1A2 | c.371G>C (p.Gly124Ala) c.365G>C (p.Gly122Ala) | |
7 | g.94404739G= | CA1726792212 | COL1A2 | c.371G= (p.Gly124=) c.365G= (p.Gly122=) | |
7 | g.94404739G>T | CA368219619 | COL1A2 | c.371G>T (p.Gly124Val) c.365G>T (p.Gly122Val) | |
7 | g.94404740T>A | CA456487162 | COL1A2 | c.372T>A (p.Gly124=) c.366T>A (p.Gly122=) | |
7 | g.94404740T>C | CA4346637 | COL1A2 | c.372T>C (p.Gly124=) c.366T>C (p.Gly122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404740T>G | CA4346636 | COL1A2 | c.372T>G (p.Gly124=) c.366T>G (p.Gly122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404740T= | CA1726792213 | COL1A2 | c.372T= (p.Gly124=) c.366T= (p.Gly122=) | |
7 | g.94404741C>A | CA368219620 | COL1A2 | c.373C>A (p.Gln125Lys) c.367C>A (p.Gln123Lys) | |
7 | g.94404741C>G | CA368219622 | COL1A2 | c.373C>G (p.Gln125Glu) c.367C>G (p.Gln123Glu) | |
7 | g.94404741C>T | CA368219621 | COL1A2 | c.373C>T (p.Gln125Ter) c.367C>T (p.Gln123Ter) | |
7 | g.94404742A>C | CA368219623 | COL1A2 | c.374A>C (p.Gln125Pro) c.368A>C (p.Gln123Pro) | |
7 | g.94404742A>G | CA368219624 | COL1A2 | c.374A>G (p.Gln125Arg) c.368A>G (p.Gln123Arg) | |
7 | g.94404742A>T | CA368219625 | COL1A2 | c.374A>T (p.Gln125Leu) c.368A>T (p.Gln123Leu) | |
7 | g.94404743A= | CA1726792214 | COL1A2 | c.375A= (p.Gln125=) c.369A= (p.Gln123=) | |
7 | g.94404743A>C | CA368219626 | COL1A2 | c.375A>C (p.Gln125His) c.369A>C (p.Gln123His) | |
7 | g.94404743A>G | CA4346638 | COL1A2 | c.375A>G (p.Gln125=) c.369A>G (p.Gln123=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.94404743A>T | CA368219627 | COL1A2 | c.375A>T (p.Gln125His) c.369A>T (p.Gln123His) | |
7 | g.94404744A>C | CA368219628 | COL1A2 | c.376A>C (p.Thr126Pro) c.370A>C (p.Thr124Pro) | |
7 | g.94404744A>G | CA368219629 | COL1A2 | c.376A>G (p.Thr126Ala) c.370A>G (p.Thr124Ala) | |
7 | g.94404744A>T | CA368219630 | COL1A2 | c.376A>T (p.Thr126Ser) c.370A>T (p.Thr124Ser) | |
7 | g.94404745C>A | CA368219631 | COL1A2 | c.377C>A (p.Thr126Asn) c.371C>A (p.Thr124Asn) | |
7 | g.94404745C= | CA1726792215 | COL1A2 | c.377C= (p.Thr126=) c.371C= (p.Thr124=) | |
7 | g.94404745C>G | CA368219632 | COL1A2 | c.377C>G (p.Thr126Ser) c.371C>G (p.Thr124Ser) | |
7 | g.94404745C>T | CA368219633 | COL1A2 | c.377C>T (p.Thr126Ile) c.371C>T (p.Thr124Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404746T>A | CA456487173 | COL1A2 | c.378T>A (p.Thr126=) c.372T>A (p.Thr124=) | gnomAD v4 |
7 | g.94404746T>C | CA456487174 | COL1A2 | c.378T>C (p.Thr126=) c.372T>C (p.Thr124=) | gnomAD v4 |
7 | g.94404746T>G | CA456487175 | COL1A2 | c.378T>G (p.Thr126=) c.372T>G (p.Thr124=) | |
7 | g.94404747G>A | CA368219636 | COL1A2 | c.378+1G>A (n.378+1G>A) c.372+1G>A (n.372+1G>A) | |
7 | g.94404747G>C | CA368219634 | COL1A2 | c.378+1G>C (n.378+1G>C) c.372+1G>C (n.372+1G>C) | |
7 | g.94404747G>T | CA368219635 | COL1A2 | c.378+1G>T (n.378+1G>T) c.372+1G>T (n.372+1G>T) | |
7 | g.94404748_94404839del | CA2776991007 | COL1A2 | c.378+2_379del c.372+2_373del | |
7 | g.94404748T>A | CA368219637 | COL1A2 | c.378+2T>A (n.378+2T>A) c.372+2T>A (n.372+2T>A) | |
7 | g.94404748T>C | CA368219638 | COL1A2 | c.378+2T>C (n.378+2T>C) c.372+2T>C (n.372+2T>C) | |
7 | g.94404748T>G | CA368219639 | COL1A2 | c.378+2T>G (n.378+2T>G) c.372+2T>G (n.372+2T>G) | |
7 | g.94404750A= | CA1726792216 | COL1A2 | c.378+4A= (n.378+4A=) c.372+4A= (n.372+4A=) | |
7 | g.94404750A>G | CA1726792217 | COL1A2 | c.378+4A>G (n.378+4A>G) c.372+4A>G (n.372+4A>G) | dbSNP |
7 | g.94404751G>C | CA2517441028 | COL1A2 | c.378+5G>C (n.378+5G>C) c.372+5G>C (n.372+5G>C) | |
7 | g.94404752T>C | CA4346639 | COL1A2 | c.378+6T>C (n.378+6T>C) c.372+6T>C (n.372+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404752T= | CA1726792218 | COL1A2 | c.378+6T= (n.378+6T=) c.372+6T= (n.372+6T=) | |
7 | g.94404754C>T | CA2578941493 | COL1A2 | c.378+8C>T (n.378+8C>T) c.372+8C>T (n.372+8C>T) | |
7 | g.94404755A>T | CA2683767105 | COL1A2 | c.378+9A>T (n.378+9A>T) c.372+9A>T (n.372+9A>T) | gnomAD v4 |
7 | g.94404756T>C | CA843998680 | COL1A2 | c.378+10T>C (n.378+10T>C) c.372+10T>C (n.372+10T>C) | dbSNP |
7 | g.94404756T= | CA1726792219 | COL1A2 | c.378+10T= (n.378+10T=) c.372+10T= (n.372+10T=) | |
7 | g.94404757T>G | CA2715125180 | COL1A2 | c.378+11T>G (n.378+11T>G) c.372+11T>G (n.372+11T>G) | dbSNP |
7 | g.94404759T>C | CA2558972147 | COL1A2 | c.378+13T>C (n.378+13T>C) c.372+13T>C (n.372+13T>C) | gnomAD v4 |
7 | g.94404760T>C | CA576321554 | COL1A2 | c.378+14T>C (n.378+14T>C) c.372+14T>C (n.372+14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404760T= | CA1726792220 | COL1A2 | c.378+14T= (n.378+14T=) c.372+14T= (n.372+14T=) | |
7 | g.94404762C>A | CA843998685 | COL1A2 | c.378+16C>A (n.378+16C>A) c.372+16C>A (n.372+16C>A) | dbSNP |
7 | g.94404762C= | CA1726792221 | COL1A2 | c.378+16C= (n.378+16C=) c.372+16C= (n.372+16C=) | |
7 | g.94404763A= | CA1726792222 | COL1A2 | c.378+17A= (n.378+17A=) c.372+17A= (n.372+17A=) | |
7 | g.94404763A>T | CA1104605214 | COL1A2 | c.378+17A>T (n.378+17A>T) c.372+17A>T (n.372+17A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404764C= | CA1726792224 | COL1A2 | c.378+18C= (n.378+18C=) c.372+18C= (n.372+18C=) | |
7 | g.94404764C>T | CA1726792223 | COL1A2 | c.378+18C>T (n.378+18C>T) c.372+18C>T (n.372+18C>T) | dbSNP |
7 | g.94404765C= | CA1726792225 | COL1A2 | c.378+19C= (n.378+19C=) c.372+19C= (n.372+19C=) | |
7 | g.94404765C>G | CA1726792226 | COL1A2 | c.378+19C>G (n.378+19C>G) c.372+19C>G (n.372+19C>G) | dbSNP |
7 | g.94404766T>A | CA2683767106 | COL1A2 | c.378+20T>A (n.378+20T>A) c.372+20T>A (n.372+20T>A) | gnomAD v4 |
7 | g.94404770T>C | CA4346641 | COL1A2 | c.378+24T>C (n.378+24T>C) c.372+24T>C (n.372+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404770T= | CA1726792227 | COL1A2 | c.378+24T= (n.378+24T=) c.372+24T= (n.372+24T=) | |
7 | g.94404770_94404771insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT | CA4346640 | COL1A2 | c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT (n.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT) c.372+24_372+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT (n.372+24_372+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT) | ExAC |
7 | g.94404772A= | CA1726792228 | COL1A2 | c.378+26A= (n.378+26A=) c.372+26A= (n.372+26A=) | |
7 | g.94404772A>G | CA4346642 | COL1A2 | c.378+26A>G (n.378+26A>G) c.372+26A>G (n.372+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404773T>C | CA576321555 | COL1A2 | c.378+27T>C (n.378+27T>C) c.372+27T>C (n.372+27T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404773T= | CA1726792229 | COL1A2 | c.378+27T= (n.378+27T=) c.372+27T= (n.372+27T=) | |
7 | g.94404773_94404775delinsTAA | CA1726792230 | COL1A2 | c.378+27_378+29delinsTAA (n.378+27_378+29delinsTAA) c.372+27_372+29delinsTAA (n.372+27_372+29delinsTAA) | |
7 | g.94404774_94404775del | CA4346643 | COL1A2 | c.378+28_378+29del (n.378+28_378+29del) c.372+28_372+29del (n.372+28_372+29del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404775A>G | CA651752735 | COL1A2 | c.378+29A>G (n.378+29A>G) c.372+29A>G (n.372+29A>G) | COSMIC |
7 | g.94404776G= | CA1726792231 | COL1A2 | c.378+30G= (n.378+30G=) c.372+30G= (n.372+30G=) | |
7 | g.94404777T>A | CA4346645 | COL1A2 | c.378+31T>A (n.378+31T>A) c.372+31T>A (n.372+31T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404777T>G | CA4346644 | COL1A2 | c.378+31T>G (n.378+31T>G) c.372+31T>G (n.372+31T>G) | dbSNP ExAC |
7 | g.94404777T= | CA1726792232 | COL1A2 | c.378+31T= (n.378+31T=) c.372+31T= (n.372+31T=) | |
7 | g.94404783dup | CA576321556 | COL1A2 | c.378+37dup (n.378+37dup) c.372+37dup (n.372+37dup) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404783del | CA2683767107 | COL1A2 | c.378+37del (n.378+37del) c.372+37del (n.372+37del) | gnomAD v4 |
7 | g.94404778T>A | CA4346646 | COL1A2 | c.378+32T>A (n.378+32T>A) c.372+32T>A (n.372+32T>A) | dbSNP ExAC |
7 | g.94404778T= | CA1726792233 | COL1A2 | c.378+32T= (n.378+32T=) c.372+32T= (n.372+32T=) | |
7 | g.94404780T>A | CA4346647 | COL1A2 | c.378+34T>A (n.378+34T>A) c.372+34T>A (n.372+34T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404780T= | CA1726792234 | COL1A2 | c.378+34T= (n.378+34T=) c.372+34T= (n.372+34T=) | |
7 | g.94404782T>C | CA2578941494 | COL1A2 | c.378+36T>C (n.378+36T>C) c.372+36T>C (n.372+36T>C) | |
7 | g.94404783T>C | CA2578941495 | COL1A2 | c.378+37T>C (n.378+37T>C) c.372+37T>C (n.372+37T>C) | |
7 | g.94404784C= | CA1726792235 | COL1A2 | c.378+38C= (n.378+38C=) c.372+38C= (n.372+38C=) | |
7 | g.94404784C>T | CA4346648 | COL1A2 | c.378+38C>T (n.378+38C>T) c.372+38C>T (n.372+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404786A= | CA1726792236 | COL1A2 | c.378+40A= (n.378+40A=) c.372+40A= (n.372+40A=) | |
7 | g.94404786A>G | CA1104605220 | COL1A2 | c.378+40A>G (n.378+40A>G) c.372+40A>G (n.372+40A>G) | dbSNP gnomAD v3 gnomAD v4 |